@article {pmid30626637,
year = {2019},
author = {Haloupek, N},
title = {Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.},
journal = {Genetics},
volume = {211},
number = {1},
pages = {1-3},
doi = {10.1534/genetics.118.301883},
pmid = {30626637},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2018 Morgan Medal, Barbara J. Meyer of the Howard Hughes Medical Institute and the University of California, Berkeley, is recognized for her career-long, groundbreaking investigations of how chromosome behaviors are controlled. Meyer's work has revealed mechanisms of sex determination and dosage compensation in Caenorhabditis elegans that continue to serve as the foundation of diverse areas of study on chromosome structure and function today, nearly 40 years after she began her work on the topic.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century
Societies, Scientific
United States

@article {pmid30190332,
year = {2018},
author = {Harding, SE and Channell, G and Phillips-Jones, MK},
title = {The discovery of hydrogen bonds in DNA and a re-evaluation of the 1948 Creeth two-chain model for its structure.},
journal = {Biochemical Society transactions},
volume = {46},
number = {5},
pages = {1171-1182},
pmid = {30190332},
issn = {1470-8752},
support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; },
mesh = {Animals ; Base Pairing ; Cattle ; DNA/*chemistry ; DNA Damage ; DNA Replication ; History, 20th Century ; Hydrogen ; *Hydrogen Bonding ; Hydrogen-Ion Concentration ; Molecular Biology/*history ; Nucleic Acid Conformation ; Nucleotides/chemistry ; Thymus Gland/chemistry ; Viscosity ; },
abstract = {We recall the experimental approaches involved in the discovery of hydrogen bonds in deoxyribonucleic acid (DNA) made 70 years ago by a team of scientists at University College Nottingham led by J.M. Gulland, and in relation to previous studies. This discovery proved an important step in the elucidation of the correct structure for DNA made by J.D. Watson and F.H.C. Crick, as acknowledged in 'The Double Helix'. At that time of the discovery, however, it was impossible to delineate between inter- and intra-chain hydrogen bonds. We also consider in the light of more recent hydrodynamic theory a tentative model for DNA proposed by Gulland's and D.O. Jordan's PhD student J.M. Creeth in his PhD thesis of 1948, with the correct prediction of two chains with a sugar-phosphate backbone on the exterior and hydrogen-bonded bases between the nucleotide bases of opposite chains in the interior. Our analysis shows that his incorporation of alternating breaks in the two-chain structure was not necessary to explain the viscosity data on scission of hydrogen bonds after titrating to high or low pH. Although Creeth's model is a depiction of DNA structure alone, he could not know whether the hydrogen bonding was intermolecular, although this was subsequently proved correct by others. The mechanisms by which replicative processes occurred were of course unknown at that time, and so, he could not have realised how closely his tentative model resembled steps in some viral replicative mechanisms involving the molecule of life that he was working on.},
}

Animals
Base Pairing
Cattle
DNA/*chemistry
DNA Damage
DNA Replication
History, 20th Century
Hydrogen
*Hydrogen Bonding
Hydrogen-Ion Concentration
Molecular Biology/*history
Nucleic Acid Conformation
Nucleotides/chemistry
Thymus Gland/chemistry
Viscosity

@article {pmid30639424,
year = {2019},
author = {Livi, GP},
title = {Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.},
journal = {Gene},
volume = {692},
number = {},
pages = {145-155},
doi = {10.1016/j.gene.2018.12.046},
pmid = {30639424},
issn = {1879-0038},
mesh = {Animals ; Drug Resistance, Fungal/drug effects/genetics ; Fungal Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Mammals ; Mechanistic Target of Rapamycin Complex 1/genetics/metabolism ; Mechanistic Target of Rapamycin Complex 2/genetics/metabolism ; Molecular Biology/*history ; Mutation ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Saccharomyces cerevisiae Proteins/*genetics/metabolism ; Sirolimus/pharmacology ; Structure-Activity Relationship ; TOR Serine-Threonine Kinases/chemistry/*metabolism ; Tacrolimus Binding Protein 1A/genetics/*metabolism ; },
abstract = {The quest to elucidate the molecular mechanism of action of rapamycin in the early 1990s led to the discovery of the novel TOR (target of rapamycin) proteins in yeast and mammalian cells. This was a major breakthrough that resulted in the development of new rapamycin analogs as anti-cancer agents, and launched new research that revealed the pre-eminent biological role of mTOR (mammalian or mechanistic TOR). Beyond mediating rapamycin sensitivity, the TOR proteins are nutrient sensing protein kinases, conserved from yeast to man, with a core function in regulating cell growth, metabolism and overall cell survival. There have been many insightful historical accounts of the origins of TOR; however, the complete TOR dossier would benefit from a chapter on the untold story of the simultaneous co-discovery of the yeast TOR proteins by two independent laboratories, one that is inclusive of the discoveries made at the former SmithKline Beecham (legacy GlaxoSmithKline). Accordingly, this comprehensive retrospective retraces the provenance of yeast TOR (circa 1990-1996) and highlights the early groundbreaking publications that revealed the identity of the TOR genes and proteins. It also commemorates key companion papers which helped to clarify yeast TOR gene nomenclature, identified structural motifs in the predicted TOR protein sequences, demonstrated interactions between yeast FKBP12-rapamycin and TOR, characterized mutations responsible for drug resistance, and began to decipher TOR protein function; some of these crucial early studies appeared in this journal (e.g., Koser et al., 1993. Gene 129, 159-165; Cafferkey et al., 1994. Gene 141, 133-136; Freeman and Livi, 1996. Gene 172, 143-147). A period of intensive investigation, events are portrayed chronologically and juxtaposed alongside the independent parallel efforts to identify and purify mTOR. Finally, in a broader historical context, TOR and mTOR are examined a posteriori as paragons of multiple discovery, illustrating how this common phenomenon (also known as simultaneous invention) can greatly accelerate problem solving and advance human knowledge in a fast-breaking area of scientific research.},
}

Animals
Drug Resistance, Fungal/drug effects/genetics
Fungal Proteins/genetics/metabolism
History, 20th Century
History, 21st Century
Humans
Mammals
Mechanistic Target of Rapamycin Complex 1/genetics/metabolism
Mechanistic Target of Rapamycin Complex 2/genetics/metabolism
Molecular Biology/*history
Mutation
Protein-Serine-Threonine Kinases/*genetics/metabolism
Saccharomyces cerevisiae Proteins/*genetics/metabolism
Sirolimus/pharmacology
Structure-Activity Relationship
TOR Serine-Threonine Kinases/chemistry/*metabolism
Tacrolimus Binding Protein 1A/genetics/*metabolism

@article {pmid30307501,
year = {2018},
author = {},
title = {Society for Glycobiology Awards - 2018.},
journal = {Glycobiology},
volume = {28},
number = {12},
pages = {906-909},
doi = {10.1093/glycob/cwy086},
pmid = {30307501},
issn = {1460-2423},
mesh = {*Awards and Prizes ; Glycomics/*history ; History, 21st Century ; Societies, Scientific/history ; },
}

*Awards and Prizes
Glycomics/*history
History, 21st Century
Societies, Scientific/history

@article {pmid28062605,
year = {2017},
author = {Landau, M},
title = {An Interview with Robert Califf.},
journal = {Clinical chemistry},
volume = {63},
number = {1},
pages = {5-13},
doi = {10.1373/clinchem.2016.254623},
pmid = {28062605},
issn = {1530-8561},
mesh = {Big Data ; Genomics/ethics/history ; Government Regulation/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; United States ; United States Food and Drug Administration/*history ; },
}

Big Data
Genomics/ethics/history
Government Regulation/history
History, 20th Century
History, 21st Century
Humans
Male
United States
United States Food and Drug Administration/*history

@article {pmid30523165,
year = {2018},
author = {Charlesworth, D},
title = {Mogens Westergaard's Contributions to Understanding Sex Chromosomes.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1143-1149},
doi = {10.1534/genetics.118.301128},
pmid = {30523165},
issn = {1943-2631},
mesh = {Alleles ; Chromosomes, Plant/genetics ; *Evolution, Molecular ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Magnoliopsida/*genetics ; Sex Chromosomes/genetics ; Sex Determination Processes/*genetics ; },
abstract = {A long-standing question in biology concerns the genetic mechanisms by which two sexes can evolve (botanists call this the dioecious condition and zoologists call it gonochory) from a functionally ancestral hermaphroditic state (without separate sexes). In 1932, H. J. Muller, one of the great 20th century geneticists but also a fine evolutionary biologist, pointed out that two mutations were necessary. It was therefore puzzling that sex determination often involves a single genetic locus. Muller believed that the evolution of a single-gene system was possible, because maize geneticists had synthesized a single-gene system with separate sexes. However, this system is highly artificial, requiring geneticists to actively eliminate the wild-type allele at one of the two genes involved. This genetic system cannot therefore explain the natural evolution of dioecy. In 1958, Westergaard reviewed studies from a diversity of flowering plants, and showed that the genetics of natural sex determination in plants does not support the maize system. Instead, the genetic results pointed to a model involving two separate factors, with close linkage creating a single genetic locus. Moreover, Westergaard also pointed out that a two-gene model offers a natural explanation for the evolution of suppressed recombination between sex chromosome pairs. Studying plants allowed genetic analyses of the early steps in the evolution of dioecy, using dioecious species that evolved recently from species without separate sexes, whereas Muller failed to fully understand such evolutionary changes because he focused on animals, where later changes have often happened and obscured the early stages.},
}

Alleles
Chromosomes, Plant/genetics
*Evolution, Molecular
Genetic Linkage
Genetics/*history
History, 20th Century
Magnoliopsida/*genetics
Sex Chromosomes/genetics
Sex Determination Processes/*genetics

@article {pmid30523164,
year = {2018},
author = {Haloupek, N},
title = {Mariana Wolfner: 2018 Genetics Society of America Medal.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1139-1141},
doi = {10.1534/genetics.118.301772},
pmid = {30523164},
issn = {1943-2631},
mesh = {Animals ; *Awards and Prizes ; Drosophila melanogaster/*genetics ; Genetics/*history/*trends ; History, 21st Century ; Humans ; Seminal Plasma Proteins/genetics ; Sexual Behavior ; Societies, Scientific ; },
abstract = {The Genetics Society of America (GSA) Medal recognizes researchers who have made outstanding contributions to the field of genetics in the past 15 years. The 2018 GSA Medal has been awarded to Mariana Wolfner of Cornell University for her work on reproductive processes that occur around the time of fertilization. This includes characterization of seminal proteins in Drosophila melanogaster, which has uncovered a wealth of information about sexual conflict in evolution.},
}

Animals
*Awards and Prizes
Drosophila melanogaster/*genetics
Genetics/*history/*trends
History, 21st Century
Humans
Seminal Plasma Proteins/genetics
Sexual Behavior
Societies, Scientific

@article {pmid30457467,
year = {2018},
author = {Ma, Q and Adua, E and Boyce, MC and Li, X and Ji, G and Wang, W},
title = {IMass Time: The Future, in Future!.},
journal = {Omics : a journal of integrative biology},
volume = {22},
number = {11},
pages = {679-695},
doi = {10.1089/omi.2018.0162},
pmid = {30457467},
issn = {1557-8100},
mesh = {Artificial Intelligence/*trends ; Big Data ; Glycomics/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Lipids/chemistry ; Mass Spectrometry/*history/methods/trends ; Metabolomics/history/methods ; Nobel Prize ; Proteins/chemistry ; Proteomics/history/methods ; },
abstract = {Joseph John Thomson discovered and proved the existence of electrons through a series of experiments. His work earned him a Nobel Prize in 1906 and initiated the era of mass spectrometry (MS). In the intervening time, other researchers have also been awarded the Nobel Prize for significant advances in MS technology. The development of soft ionization techniques was central to the application of MS to large biological molecules and led to an unprecedented interest in the study of biomolecules such as proteins (proteomics), metabolites (metabolomics), carbohydrates (glycomics), and lipids (lipidomics), allowing a better understanding of the molecular underpinnings of health and disease. The interest in large molecules drove improvements in MS resolution and now the challenge is in data deconvolution, intelligent exploitation of heterogeneous data, and interpretation, all of which can be ameliorated with a proposed IMass technology. We define IMass as a combination of MS and artificial intelligence, with each performing a specific role. IMass will offer advantages such as improving speed, sensitivity, and analyses of large data that are presently not possible with MS alone. In this study, we present an overview of the MS considering historical perspectives and applications, challenges, as well as insightful highlights of IMass.},
}

Artificial Intelligence/*trends
Big Data
Glycomics/history/methods
History, 19th Century
History, 20th Century
History, 21st Century
Lipids/chemistry
Mass Spectrometry/*history/methods/trends
Metabolomics/history/methods
Nobel Prize
Proteins/chemistry
Proteomics/history/methods

@article {pmid30216089,
year = {2018},
author = {Wilson, JM},
title = {University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.},
journal = {Human gene therapy. Clinical development},
volume = {29},
number = {3},
pages = {118-120},
doi = {10.1089/humc.2018.29035.int},
pmid = {30216089},
issn = {2324-8645},
mesh = {Genetic Therapy/*trends ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; },
}

Genetic Therapy/*trends
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Universities

@article {pmid30661654,
year = {2019},
author = {Morganti, S and Tarantino, P and Ferraro, E and D'Amico, P and Viale, G and Trapani, D and Duso, BA and Curigliano, G},
title = {Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.},
journal = {Critical reviews in oncology/hematology},
volume = {133},
number = {},
pages = {171-182},
doi = {10.1016/j.critrevonc.2018.11.008},
pmid = {30661654},
issn = {1879-0461},
mesh = {*Data Interpretation, Statistical ; Diagnostic Tests, Routine/history/methods/statistics & numerical data ; Disease Progression ; *Genomics/history/methods/standards ; *High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/diagnosis/*genetics/*therapy ; *Precision Medicine/history/methods/standards ; Research Design/standards ; },
abstract = {The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.},
}

*Data Interpretation, Statistical
Diagnostic Tests, Routine/history/methods/statistics & numerical data
Disease Progression
*Genomics/history/methods/standards
*High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data
History, 20th Century
History, 21st Century
Humans
Mutation
Neoplasms/diagnosis/*genetics/*therapy
*Precision Medicine/history/methods/standards
Research Design/standards

@article {pmid29717434,
year = {2018},
author = {Karlin-Neumann, G and Bizouarn, F},
title = {Entering the Pantheon of 21st Century Molecular Biology Tools: A Perspective on Digital PCR.},
journal = {Methods in molecular biology (Clifton, N.J.)},
volume = {1768},
number = {},
pages = {3-10},
doi = {10.1007/978-1-4939-7778-9_1},
pmid = {29717434},
issn = {1940-6029},
mesh = {Biomarkers, Tumor/genetics/*isolation & purification ; Biomedical Research/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*methods ; Neoplasms/*diagnosis/genetics ; Nucleic Acids/genetics/isolation & purification ; Pathology, Molecular/history/instrumentation/methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; },
abstract = {After several decades of relatively modest use, in the last several years digital PCR (dPCR) has grown to become the new gold standard for nucleic acid quantification. This coincides with the commercial availability of scalable, affordable, and reproducible droplet-based dPCR platforms in the past five years and has led to its rapid dissemination into diverse research fields and testing applications. Among these, it has been adopted most vigorously into clinical oncology where it is beginning to be used for plasma genotyping in cancer patients undergoing treatment. Additionally, innovation across the scientific community has extended the benefits of reaction partitioning beyond DNA and RNA quantification alone, and demonstrated its usefulness in evaluating DNA size and integrity, the physical linkage of colocalized markers, levels of enzyme activity and specific cation concentrations in a sample, and more. As dPCR technology gains in popularity and breadth, its power and simplicity can often be taken for granted; thus, the reader is reminded that due diligence must be exercised in order to make claims not only of precision but also of accuracy in their measurements.},
}

Biomarkers, Tumor/genetics/*isolation & purification
Biomedical Research/history/instrumentation/*methods
History, 20th Century
History, 21st Century
Humans
Medical Oncology/*methods
Neoplasms/*diagnosis/genetics
Nucleic Acids/genetics/isolation & purification
Pathology, Molecular/history/instrumentation/methods
Polymerase Chain Reaction/history/instrumentation/*methods

@article {pmid30061627,
year = {2018},
author = {Lombardo, PA},
title = {The power of heredity and the relevance of eugenic history.},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
volume = {20},
number = {11},
pages = {1305-1311},
doi = {10.1038/s41436-018-0123-4},
pmid = {30061627},
issn = {1530-0366},
mesh = {Eugenics/*history ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Humans ; },
}

Eugenics/*history
Genetics/*history
Heredity/*genetics
History, 20th Century
Humans

@article {pmid30401760,
year = {2018},
author = {Haloupek, N},
title = {Job Dekker: 2018 Edward Novitski Prize.},
journal = {Genetics},
volume = {210},
number = {3},
pages = {745-746},
pmid = {30401760},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; },
abstract = {The Genetics Society of America's (GSA) Edward Novitski Prize is awarded to researchers who have solved challenging problems in genetics through experiments that demonstrate exceptional creativity and ingenuity. Job Dekker of the University of Massachusetts Medical School has been selected for the 2018 award in recognition of his innovative approach to understanding chromosome interactions and nuclear organization. Among Dekker's contributions are the development of the now-ubiquitous approach of chromosome conformation capture and the discovery of topologically associating domains.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century

@article {pmid30136864,
year = {2018},
author = {Mezquita-Pla, J},
title = {Gordon H. Dixon's trace in my personal career and the quantic jump experienced in regulatory information.},
journal = {Systems biology in reproductive medicine},
volume = {64},
number = {6},
pages = {448-468},
doi = {10.1080/19396368.2018.1503752},
pmid = {30136864},
issn = {1939-6376},
mesh = {Animals ; *Gene Expression Regulation ; Genomics/*history ; Histones/*physiology ; History, 20th Century ; History, 21st Century ; RNA/physiology ; },
abstract = {Even before Rosalin Franklin had discovered the DNA double helix, in her impressive X-ray diffraction image pattern, Erwin Schröedinger, described, in his excellent book, What is Life, how the finding of aperiodic crystals in biological systems surprised him (an aperiodic crystal, which, in my opinion is the material carrier of life). In the 21st century and still far from being able to define life, we are attending to a quick acceleration of knowledge on regulatory information. With the discovery of new codes and punctuation marks, we will greatly increase our understanding in front of an impressive avalanche of genomic sequences. Trifonov et al. defined a genetic code as a widespread DNA sequence pattern that carries a message with an impact on biology. These patterns are largely captured in transcribed messages that give meaning and identity to the particular cells. In this review, I will go through my personal career in and after my years of work in the laboratory of Gordon H. Dixon, extending toward the impressive acquisition of new knowledge on regulatory information and genetic codes provided by remarkable scientists in the field. Abbreviations: CA II: carbonic anhydridase II (chicken); Car2: carbonic anhydridase 2 (mouse); CpG islands: short (>0.5 kb) stretches of DNA with a G+C content ≥55%; DNMT1: DNA methyltransferases 1; DNMT3b: DNA methyltransferases 3B; DSB: double-strand DNA breaks; ERT: endogenous retrotransposon; ERV: endogenous retroviruses; ES cells: embryonic stem cells; GAPDH: glyceraldehide phosphate dehydrogenase; H1: histone H1; HATs: histone acetyltransferases; HDACs: histone deacetylases; H3K4me3: histone 3 trimethylated at lys 4; H3K79me2: histone 3 dimethylated at lys 79; HMG: high mobility group proteins; HMT: histone methyltransferase; HP1: heterochromatin protein 1; HR: homologous recombination; HSE: heat-shock element; ICRs: imprinted control regions; IRF: interferon regulatory factor; LDH-A/-B: lactate dehydrogenase A/B; LTR: long terminal repeats; MeCP2: methyl CpG binding protein 2; OCT4: octamer-binding transcription factor 4; PAF1: RNA Polymerase II associated factor 1; piRNA: PIWI-interacting RNA; poly(A) tails: poly-adenine tails; PRC2: polycomb repressive complex 2; PTMs: post-translational modifications; SIRT 1: sirtuin 1, silent information regulator; STAT3: signal transducer and activator of transcription; tRNAs: transfer RNA; tRFs: tRNA-derived fragments; TSS: transcription start site; TE: transposable elements; UB I: polyubiquitin I; UB II: polyubiquitin II; UBE 2N: ubiquitin conjugating enzyme E2N; 5'-UTR: 5'-untranslated sequences; 3'-UTR: 3'-untranslated sequences.},
}

Animals
*Gene Expression Regulation
Genomics/*history
Histones/*physiology
History, 20th Century
History, 21st Century
RNA/physiology

@article {pmid30025565,
year = {2018},
author = {Tavaré, S and Buzbas, EO},
title = {Introduction to the Paul Joyce special issue.},
journal = {Theoretical population biology},
volume = {122},
number = {},
pages = {1-2},
doi = {10.1016/j.tpb.2018.07.001},
pmid = {30025565},
issn = {1096-0325},
mesh = {Adaptation, Biological/genetics ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; },
}

Adaptation, Biological/genetics
*Genetics, Population/history
History, 20th Century
History, 21st Century
Humans
Models, Genetic

@article {pmid29482283,
year = {2018},
author = {Viggiano, D and Zacchia, M and Simonelli, F and Di Iorio, V and Anastasio, P and Capasso, G and De Santo, NG},
title = {The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.},
journal = {Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia},
volume = {35},
number = {Suppl 70},
pages = {95-100},
pmid = {29482283},
issn = {1724-5990},
mesh = {Bardet-Biedl Syndrome/complications/genetics/*history ; Genetics, Medical/*history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Diseases/etiology/*history ; },
}

Bardet-Biedl Syndrome/complications/genetics/*history
Genetics, Medical/*history
History, 18th Century
History, 19th Century
History, 20th Century
History, 21st Century
Humans
Kidney Diseases/etiology/*history

@article {pmid29042150,
year = {2018},
author = {Krone, SM},
title = {Paul Joyce and the infinite alleles model.},
journal = {Theoretical population biology},
volume = {122},
number = {},
pages = {3-4},
doi = {10.1016/j.tpb.2017.10.001},
pmid = {29042150},
issn = {1096-0325},
mesh = {*Alleles ; Computer Simulation ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; Poisson Distribution ; },
abstract = {Paul Joyce's work touched on a variety of topics in population genetics-from mathematical models of idealized systems to working closely with biologists on experimental evolution and landscape genetics. I will focus on his earlier mathematical/statistical work that centered on the infinite alleles model.},
}

*Alleles
Computer Simulation
*Genetics, Population/history
History, 20th Century
History, 21st Century
*Models, Genetic
Poisson Distribution

@article {pmid29535460,
year = {2018},
author = {Charney, AW},
title = {Pamela Sklar.},
journal = {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology},
volume = {43},
number = {5},
pages = {1191-1192},
doi = {10.1038/npp.2018.1},
pmid = {29535460},
issn = {1740-634X},
mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Psychiatry/*history ; United States ; },
}

Genomics/*history
History, 20th Century
History, 21st Century
Psychiatry/*history
United States

@article {pmid30265852,
year = {2018},
author = {Jonna, S and Giaccone, G and Subramaniam, DS},
title = {Understanding molecular diagnostic technology in oncology through the lens of lung cancer.},
journal = {Discovery medicine},
volume = {26},
number = {141},
pages = {21-29},
pmid = {30265852},
issn = {1944-7930},
mesh = {High-Throughput Nucleotide Sequencing ; History, 21st Century ; Humans ; Lung Neoplasms/drug therapy/*genetics ; *Medical Oncology ; Pathology, Molecular/history/*methods ; Protein Kinase Inhibitors/therapeutic use ; },
abstract = {Historically, advanced lung cancer conferred a poor prognosis, and chemotherapy only improved outcomes in patients with good performance status. The identification of certain molecular subtypes of non-small cell lung cancer changed the treatment paradigm by incorporating tumor genomic information into clinical decision-making. To meet the demands of this emerging approach, genomic technology rapidly expanded in an effort to detect specific driver mutations. While polymerase-chain reaction testing, immunohistochemistry, and fluorescent-in-situ hybridization have been standard-of-care, next-generation sequencing is increasingly replacing older technologies. Plasma-based testing is also gaining use given its convenience. Advances in molecular technology in this new era of precision medicine have led to the parallel development of companion diagnostics and novel tyrosine kinase inhibitors.},
}

High-Throughput Nucleotide Sequencing
History, 21st Century
Humans
Lung Neoplasms/drug therapy/*genetics
*Medical Oncology
Pathology, Molecular/history/*methods
Protein Kinase Inhibitors/therapeutic use

@article {pmid29489010,
year = {2018},
author = {Papatriantafyllou, M},
title = {Centre for Genomic Regulation - a hub for Integrative Biology in Barcelona.},
journal = {FEBS letters},
volume = {592},
number = {6},
pages = {833-837},
doi = {10.1002/1873-3468.13020},
pmid = {29489010},
issn = {1873-3468},
mesh = {Genomics/history/*methods/*organization & administration ; History, 21st Century ; Humans ; Portraits as Topic ; Spain ; },
}

Genomics/history/*methods/*organization & administration
History, 21st Century
Humans
Portraits as Topic
Spain

@article {pmid30386858,
year = {2018},
author = {Tan, SY and Furubayashi, JK},
title = {Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.},
journal = {Singapore medical journal},
volume = {59},
number = {10},
pages = {555-556},
pmid = {30386858},
issn = {0037-5675},
mesh = {France ; History, 20th Century ; Humans ; Molecular Biology/*history ; *Operon ; Philately ; Philosophy ; },
}

France
History, 20th Century
Humans
Molecular Biology/*history
*Operon
Philately
Philosophy

@article {pmid29847176,
year = {2018},
author = {},
title = {James Watson at 90.},
journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
volume = {32},
number = {6},
pages = {2901-2902},
doi = {10.1096/fj.180601ufm},
pmid = {29847176},
issn = {1530-6860},
mesh = {DNA/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Portraits as Topic ; },
}

DNA/*history
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Nobel Prize
Portraits as Topic

@article {pmid29777837,
year = {2018},
author = {Kropinski, AM},
title = {Bacteriophage research - What we have learnt and what still needs to be addressed.},
journal = {Research in microbiology},
volume = {169},
number = {9},
pages = {481-487},
doi = {10.1016/j.resmic.2018.05.002},
pmid = {29777837},
issn = {1769-7123},
mesh = {Anti-Bacterial Agents/administration & dosage/adverse effects/history ; *Bacteriophages/classification ; Classification ; Computational Biology/history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Phage Therapy/history ; Research/*history ; Research Design ; },
abstract = {Research on bacteriophages has significantly enhanced our understanding of molecular biology, the genomes of prokaryotic cells, and viral ecology. Phages and lysins offer a viable alternative to the declining utility of antibiotics in this post-antibiotic era. They also provide ideal teaching tools for genomics and bioinformatics. This article touches on the first 100 years of phage research with the author commenting on what he thinks are the highlights, and what needs to be addressed.},
}

Anti-Bacterial Agents/administration & dosage/adverse effects/history
*Bacteriophages/classification
Classification
Computational Biology/history
Genomics/history
History, 20th Century
History, 21st Century
Phage Therapy/history
Research/*history
Research Design

@article {pmid30055809,
year = {2018},
author = {Godde, K},
title = {A new analysis interpreting Nilotic relationships and peopling of the Nile Valley.},
journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen},
volume = {69},
number = {4},
pages = {147-157},
doi = {10.1016/j.jchb.2018.07.002},
pmid = {30055809},
issn = {1618-1301},
mesh = {Cephalometry ; Chromosomes, Human, Y ; Egypt ; Ethnic Groups/genetics/*history ; Fossils ; Genetics, Population/history ; History, Ancient ; Humans ; Male ; Political Systems/history ; Population Dynamics/history ; },
abstract = {The process of the peopling of the Nile Valley likely shaped the population structure and early biological similarity of Egyptians and Nubians. As others have noted, affinity among Nilotic populations was due to an aggregation of events, including environmental, linguistic, and sociopolitical changes over a great deal of time. This study seeks to evaluate the relationships of Nubian and Egyptian groups in the context of the original peopling event. Cranial nonmetric traits from 18 Nubian and Egyptian samples, spanning Lower Egypt to Lower Nubia and approximately 7400 years, were analyzed using Mahalanobis D2 as a measure of biological distance. A principal coordinates analysis and spatial-temporal model were applied to these data. The results reveal temporal and spatial patterning consistent with documented events in Egyptian and Nubian population history. Moreover, the Mesolithic Nubian sample clustered with later Nubian and Egyptian samples, indicating that events prior to the Mesolithic were important in shaping the later genetic patterning of the Nubian population. Later contact through the establishment of the Egyptian fort at Buhen, Kerma's position as a strategic trade center along the Nile, and Egyptian colonization at Tombos maintained genetic similarity among the populations.},
}

Cephalometry
Chromosomes, Human, Y
Egypt
Ethnic Groups/genetics/*history
Fossils
Genetics, Population/history
History, Ancient
Humans
Male
Political Systems/history
Population Dynamics/history

@article {pmid29523692,
year = {2018},
author = {von Heijne, G},
title = {Membrane protein serendipity.},
journal = {The Journal of biological chemistry},
volume = {293},
number = {10},
pages = {3470-3476},
pmid = {29523692},
issn = {1083-351X},
mesh = {Animals ; Chemical Engineering/*history ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Lipid Bilayers/chemistry/metabolism ; Membrane Proteins/chemistry/genetics/*history/metabolism ; *Models, Molecular ; Molecular Biology/*history ; New York City ; Physics/*history ; Protein Folding ; Protein Sorting Signals ; Signal Transduction ; Sweden ; },
abstract = {My scientific career has taken me from chemistry, via theoretical physics and bioinformatics, to molecular biology and even structural biology. Along the way, serendipity led me to work on problems such as the identification of signal peptides that direct protein trafficking, membrane protein biogenesis, and cotranslational protein folding. I've had some great collaborations that came about because of a stray conversation or from following up on an interesting paper. And I've had the good fortune to be asked to sit on the Nobel Committee for Chemistry, where I am constantly reminded of the amazing pace and often intricate history of scientific discovery. Could I have planned this? No way! I just went with the flow ….},
}

Animals
Chemical Engineering/*history
Computational Biology/*history
History, 20th Century
History, 21st Century
Humans
Lipid Bilayers/chemistry/metabolism
Membrane Proteins/chemistry/genetics/*history/metabolism
*Models, Molecular
Molecular Biology/*history
New York City
Physics/*history
Protein Folding
Protein Sorting Signals
Signal Transduction
Sweden

@article {pmid29246333,
year = {2018},
author = {Lebel, RR},
title = {50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.},
journal = {The Journal of pediatrics},
volume = {192},
number = {},
pages = {129},
doi = {10.1016/j.jpeds.2017.07.042},
pmid = {29246333},
issn = {1097-6833},
mesh = {Child ; Ear, Middle/*abnormalities ; Family Health ; Female ; Genes, Recessive ; Genetic Predisposition to Disease ; Genetics/*history ; History, 20th Century ; Humans ; Kidney/*abnormalities ; Male ; Pediatrics/*history ; Syndrome ; Urogenital Abnormalities/*history ; Vagina/*abnormalities ; },
}

Child
Ear, Middle/*abnormalities
Family Health
Female
Genes, Recessive
Genetic Predisposition to Disease
Genetics/*history
History, 20th Century
Humans
Kidney/*abnormalities
Male
Pediatrics/*history
Syndrome
Urogenital Abnormalities/*history
Vagina/*abnormalities

@article {pmid28876334,
year = {2018},
author = {Leitzmann, C},
title = {Whole new concepts of nutrition.},
journal = {European journal of clinical nutrition},
volume = {72},
number = {1},
pages = {1-3},
pmid = {28876334},
issn = {1476-5640},
mesh = {Animals ; Biochemistry/education/*history ; Chemistry/education/history ; Conservation of Natural Resources/history/trends ; Germany ; Healthy Diet/*history/trends ; Healthy Lifestyle ; History, 20th Century ; History, 21st Century ; Humans ; Malnutrition/*history/prevention & control/therapy ; Molecular Biology/education/history ; Nutritional Sciences/education/*history ; Organic Agriculture/history/trends ; United States ; },
}

Animals
Biochemistry/education/*history
Chemistry/education/history
Conservation of Natural Resources/history/trends
Germany
Healthy Diet/*history/trends
Healthy Lifestyle
History, 20th Century
History, 21st Century
Humans
Malnutrition/*history/prevention & control/therapy
Molecular Biology/education/history
Nutritional Sciences/education/*history
Organic Agriculture/history/trends
United States

@article {pmid30337139,
year = {2018},
author = {Lowe, JWE},
title = {Sequencing through thick and thin: Historiographical and philosophical implications.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {72},
number = {},
pages = {10-27},
doi = {10.1016/j.shpsc.2018.10.007},
pmid = {30337139},
issn = {1879-2499},
mesh = {Animals ; *Genome ; Genomics/*history ; *Historiography ; History, 21st Century ; *Philosophy ; Sequence Analysis, DNA/history/*veterinary ; Sus scrofa/*genetics ; },
abstract = {DNA sequencing has been characterised by scholars and life scientists as an example of 'big', 'fast' and 'automated' science in biology. This paper argues, however, that these characterisations are a product of a particular interpretation of what sequencing is, what I call 'thin sequencing'. The 'thin sequencing' perspective focuses on the determination of the order of bases in a particular stretch of DNA. Based upon my research on the pig genome mapping and sequencing projects, I provide an alternative 'thick sequencing' perspective, which also includes a number of practices that enable the sequence to travel across and be used in wider communities. If we take sequencing in the thin manner to be an event demarcated by the determination of sequences in automated sequencing machines and computers, this has consequences for the historical analysis of sequencing projects, as it focuses attention on those parts of the work of sequencing that are more centralised, fast (and accelerating) and automated. I argue instead that sequencing can be interpreted as a more open-ended process including activities such as the generation of a minimum tile path or annotation, and detail the historiographical and philosophical consequences of this move.},
}

Animals
*Genome
Genomics/*history
*Historiography
History, 21st Century
*Philosophy
Sequence Analysis, DNA/history/*veterinary
Sus scrofa/*genetics

@article {pmid29195068,
year = {2017},
author = {Rosbash, M},
title = {Life Is an N of 1.},
journal = {Cell},
volume = {171},
number = {6},
pages = {1241-1245},
doi = {10.1016/j.cell.2017.11.027},
pmid = {29195068},
issn = {1097-4172},
mesh = {Circadian Rhythm ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; },
}

Circadian Rhythm
Genetics, Behavioral/*history
History, 20th Century
History, 21st Century

@article {pmid29195067,
year = {2017},
author = {Young, MW},
title = {As Time Flew By.},
journal = {Cell},
volume = {171},
number = {6},
pages = {1236-1240},
doi = {10.1016/j.cell.2017.11.022},
pmid = {29195067},
issn = {1097-4172},
mesh = {Animals ; *Circadian Rhythm ; Drosophila/*genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; },
}

Animals
*Circadian Rhythm
Drosophila/*genetics
Genetics/*history
History, 20th Century
History, 21st Century
United States

@article {pmid29100068,
year = {2017},
author = {Yuste, R},
title = {The Origins of the BRAIN Initiative: A Personal Journey.},
journal = {Cell},
volume = {171},
number = {4},
pages = {726-735},
doi = {10.1016/j.cell.2017.10.026},
pmid = {29100068},
issn = {1097-4172},
mesh = {Animals ; Brain/metabolism/physiology ; Calcium Signaling ; Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Spain ; United States ; },
}

Animals
Brain/metabolism/physiology
Calcium Signaling
Genetics/history
History, 20th Century
History, 21st Century
Humans
Neurosciences/*history
Spain
United States

@article {pmid30287513,
year = {2018},
author = {van Dijk, PJ and Weissing, FJ and Ellis, THN},
title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {347-355},
pmid = {30287513},
issn = {1943-2631},
mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; },
abstract = {Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.},
}

Genetics/*history
History, 19th Century
Plant Breeding/*history/methods
Plant Diseases

@article {pmid30287512,
year = {2018},
author = {Haloupek, N},
title = {Philip Hieter: 2018 George W. Beadle Award.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {345-346},
pmid = {30287512},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. For his work fostering communication and collaboration among members of the many subfields of genetics, Philip Hieter of the University of British Columbia has been named 2018's recipient of the award. Among his contributions are many initiatives that aim to better link human and model organism geneticists, including the Canadian Rare Diseases Models and Mechanisms Network-a consortium that connects investigators who identify rare disease genes in humans to basic scientists who can study the genes in model organisms.},
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Societies, Scientific
United States

@article {pmid29867264,
year = {2018},
author = {Morrison, PJ},
title = {Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.},
journal = {The Ulster medical journal},
volume = {87},
number = {2},
pages = {102-108},
pmid = {29867264},
issn = {0041-6193},
mesh = {Acromegaly/genetics/history ; Biological Evolution ; Breast Neoplasms/diagnostic imaging/genetics/*history ; Early Detection of Cancer/history ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Homosexuality, Male/genetics ; Humans ; Male ; Mammography/history ; Northern Ireland ; Parkinson Disease/genetics ; },
}

Acromegaly/genetics/history
Biological Evolution
Breast Neoplasms/diagnostic imaging/genetics/*history
Early Detection of Cancer/history
Female
Genetics/*history
History, 20th Century
History, 21st Century
Homosexuality, Male/genetics
Humans
Male
Mammography/history
Northern Ireland
Parkinson Disease/genetics

@article {pmid30027861,
year = {2018},
author = {Segal, NL},
title = {Symposium in Honor of Irving I. Gottesman (December 29, 1930-June 29, 2016).},
journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies},
volume = {21},
number = {4},
pages = {281-284},
doi = {10.1017/thg.2018.29},
pmid = {30027861},
issn = {1832-4274},
mesh = {Animals ; Congresses as Topic ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Twin Studies as Topic ; },
abstract = {The June 2016 death of our esteemed colleague, Dr Irving I. Gottesman, was felt as an extreme loss at so many levels by colleagues, students, friends, and family across the globe. Irv's stellar contributions to the field of twin research will continue to be remembered and cited for many years to come. In commemoration of his life and work, I organized a symposium at the 16th meeting of the International Society for Twin Studies, held in Madrid, Spain, November 16-18, 2017. The panelists included mostly former students, as well as colleagues, who presented their scientific research and personal remarks reflecting Irv's profound influence in shaping their lives and careers. A chronology of Irv's academic positions and honors is included in the introduction to this special issue of Twin Research and Human Genetics, followed by brief sketches of the panel participants; their scholarly papers and personal reflections follow.},
}

Animals
Congresses as Topic
History, 20th Century
History, 21st Century
Human Genetics/*history
Humans
Twin Studies as Topic

@article {pmid30224294,
year = {2018},
author = {Leeming, W and Barahona, A},
title = {Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {71},
number = {},
pages = {8-16},
doi = {10.1016/j.shpsc.2018.08.002},
pmid = {30224294},
issn = {1879-2499},
mesh = {Canada ; Cytogenetics/*history ; History of Medicine ; History, 20th Century ; Humans ; Mexico ; },
abstract = {Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.},
}

Canada
Cytogenetics/*history
History of Medicine
History, 20th Century
Humans
Mexico

@article {pmid30166445,
year = {2018},
author = {Schaeffer, SW},
title = {Muller "Elements" in Drosophila: How the Search for the Genetic Basis for Speciation Led to the Birth of Comparative Genomics.},
journal = {Genetics},
volume = {210},
number = {1},
pages = {3-13},
pmid = {30166445},
issn = {1943-2631},
support = {R01 GM098478/GM/NIGMS NIH HHS/United States ; },
mesh = {Animals ; Chromosome Mapping/methods/*trends ; Chromosomes ; Comparative Genomic Hybridization/*history/methods/trends ; Drosophila/genetics/metabolism ; Evolution, Molecular ; Genetic Linkage/genetics ; Genetic Speciation ; Genome/genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Synteny ; },
abstract = {The concept of synteny, or conservation of genes on the same chromosome, traces its origins to the early days of Drosophila genetics. This discovery emerged from comparisons of linkage maps from different species of Drosophila with the goal of understanding the process of speciation. H. J. Muller published a landmark article entitled Bearings of the "Drosophila" work on systematics, where he synthesized genetic and physical map data and proposed a model of speciation and chromosomal gene content conservation. These models have withstood the test of time with the advent of molecular genetic analysis from protein to genome level variation. Muller's ideas provide a framework to begin to answer questions about the evolutionary forces that shape the structure of the genome.},
}

Animals
Chromosome Mapping/methods/*trends
Chromosomes
Comparative Genomic Hybridization/*history/methods/trends
Drosophila/genetics/metabolism
Evolution, Molecular
Genetic Linkage/genetics
Genetic Speciation
Genome/genetics
Genomics/*history
History, 20th Century
History, 21st Century
Synteny

@article {pmid29598980,
year = {2018},
author = {Romero, R},
title = {A Profile of Dennis Lo, DM, DPhil, FRCP, FRCPath, FRS.},
journal = {American journal of obstetrics and gynecology},
volume = {218},
number = {4},
pages = {371-378},
pmid = {29598980},
issn = {1097-6868},
support = {Z99 HD999999//NULL/International ; },
mesh = {Cell-Free Nucleic Acids/blood ; Chromosome Aberrations ; DNA/blood ; Female ; Genetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Hong Kong ; Humans ; Neoplasms/*diagnosis ; Pregnancy/blood ; Prenatal Diagnosis/*history ; Sequence Analysis, DNA ; },
}

Cell-Free Nucleic Acids/blood
Chromosome Aberrations
DNA/blood
Female
Genetics/*history
Genome, Human
History, 20th Century
History, 21st Century
Hong Kong
Humans
Neoplasms/*diagnosis
Pregnancy/blood
Prenatal Diagnosis/*history
Sequence Analysis, DNA

@article {pmid29499160,
year = {2018},
author = {Brunner, HG},
title = {2017 Curt Stern Award Introduction: Nico Katsanis.},
journal = {American journal of human genetics},
volume = {102},
number = {3},
pages = {354},
doi = {10.1016/j.ajhg.2018.01.013},
pmid = {29499160},
issn = {1537-6605},
mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; },
}

*Awards and Prizes
Genetics, Medical/*history
History, 20th Century
History, 21st Century

@article {pmid29499157,
year = {2018},
author = {Cox, NJ},
title = {2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.},
journal = {American journal of human genetics},
volume = {102},
number = {3},
pages = {342-349},
pmid = {29499157},
issn = {1537-6605},
mesh = {*Biography as Topic ; *Cultural Diversity ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Women ; },
}

*Biography as Topic
*Cultural Diversity
History, 20th Century
History, 21st Century
Human Genetics/*history
Humans
*Women

@article {pmid29410482,
year = {2018},
author = {Stolarek, I and Juras, A and Handschuh, L and Marcinkowska-Swojak, M and Philips, A and Zenczak, M and Dębski, A and Kóčka-Krenz, H and Piontek, J and Kozlowski, P and Figlerowicz, M},
title = {A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.},
journal = {Scientific reports},
volume = {8},
number = {1},
pages = {2455},
pmid = {29410482},
issn = {2045-2322},
mesh = {Adult ; Cemeteries/history ; DNA, Mitochondrial/classification/*genetics ; Europe ; Female ; *Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Male ; *Pedigree ; },
abstract = {Despite the increase in our knowledge about the factors that shaped the genetic structure of the human population in Europe, the demographic processes that occurred during and after the Early Bronze Age (EBA) in Central-East Europe remain unclear. To fill the gap, we isolated and sequenced DNAs of 60 individuals from Kowalewko, a bi-ritual cemetery of the Iron Age (IA) Wielbark culture, located between the Oder and Vistula rivers (Kow-OVIA population). The collected data revealed high genetic diversity of Kow-OVIA, suggesting that it was not a small isolated population. Analyses of mtDNA haplogroup frequencies and genetic distances performed for Kow-OVIA and other ancient European populations showed that Kow-OVIA was most closely linked to the Jutland Iron Age (JIA) population. However, the relationship of both populations to the preceding Late Neolithic (LN) and EBA populations were different. We found that this phenomenon is most likely the consequence of the distinct genetic history observed for Kow-OVIA women and men. Females were related to the Early-Middle Neolithic farmers, whereas males were related to JIA and LN Bell Beakers. In general, our findings disclose the mechanisms that could underlie the formation of the local genetic substructures in the South Baltic region during the IA.},
}

Adult
Cemeteries/history
DNA, Mitochondrial/classification/*genetics
Europe
Female
*Genetic Variation
Genetics, Population/*history
Haplotypes
History, Ancient
Humans
Male
*Pedigree

@article {pmid29233487,
year = {2018},
author = {Metcalfe, SA},
title = {Genetic counselling, patient education, and informed decision-making in the genomic era.},
journal = {Seminars in fetal & neonatal medicine},
volume = {23},
number = {2},
pages = {142-149},
doi = {10.1016/j.siny.2017.11.010},
pmid = {29233487},
issn = {1878-0946},
mesh = {Biomedical Research/methods/trends ; *Decision Making ; Family Characteristics ; Female ; Genetic Counseling/*history/psychology/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*methods/trends ; Genomics/education/*history/methods/trends ; Health Knowledge, Attitudes, Practice ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Patient Education as Topic/trends ; Pregnancy ; Prenatal Diagnosis/*methods/psychology/trends ; Psychosocial Support Systems ; Stress, Psychological/etiology/prevention & control/psychology ; },
abstract = {Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices. Previous studies would suggest that many women do not make informed decisions about prenatal genetic screening, and the introduction of genomic technologies has generally added to the ethical debate. Appropriate pre-test genetic counselling is recommended, and healthcare providers should include information that is balanced, accurate and up-to-date, comprising written and/or e-learning tools, as well as providing psychosocial support so that couples consider the pros and cons of being tested and can make informed decisions.},
}

Biomedical Research/methods/trends
*Decision Making
Family Characteristics
Female
Genetic Counseling/*history/psychology/trends
Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history
Genetic Testing/*methods/trends
Genomics/education/*history/methods/trends
Health Knowledge, Attitudes, Practice
History, 20th Century
History, 21st Century
Humans
Male
*Patient Education as Topic/trends
Pregnancy
Prenatal Diagnosis/*methods/psychology/trends
Psychosocial Support Systems
Stress, Psychological/etiology/prevention & control/psychology

@article {pmid29128491,
year = {2018},
author = {Harris, S and Reed, D and Vora, NL},
title = {Screening for fetal chromosomal and subchromosomal disorders.},
journal = {Seminars in fetal & neonatal medicine},
volume = {23},
number = {2},
pages = {85-93},
pmid = {29128491},
issn = {1878-0946},
support = {K12 HD001441/HD/NICHD NIH HHS/United States ; K23 HD088742/HD/NICHD NIH HHS/United States ; },
mesh = {Aneuploidy ; Chromosome Disorders/*diagnosis/embryology/genetics/history ; DNA/blood/chemistry ; DNA Mutational Analysis/trends ; Female ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis/*history/methods/trends ; },
abstract = {Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders. The optimal method for incorporating cfDNA screening into existing programs continues to be debated. It is important that obstetricians understand the biological foundations and limitations of this technology and provide patients with up-to-date information regarding cfDNA screening.},
}

Aneuploidy
Chromosome Disorders/*diagnosis/embryology/genetics/history
DNA/blood/chemistry
DNA Mutational Analysis/trends
Female
Genetic Counseling/history/trends
Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history
Genetic Testing/*history/methods/trends
History, 20th Century
History, 21st Century
Humans
Male
Pregnancy
Prenatal Diagnosis/*history/methods/trends

@article {pmid29058018,
year = {2017},
author = {Gramelsberger, G},
title = {[Big Data Revolution or Data Hubris? : On the Data Positivism of Molecular Biology].},
journal = {NTM},
volume = {25},
number = {4},
pages = {459-483},
pmid = {29058018},
issn = {1420-9144},
mesh = {Algorithms ; *Big Data ; Data Science ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Molecular Biology/*history ; Sequence Analysis, DNA/*history/methods ; },
abstract = {Genome data, the core of the 2008 proclaimed big data revolution in biology, are automatically generated and analyzed. The transition from the manual laboratory practice of electrophoresis sequencing to automated DNA-sequencing machines and software-based analysis programs was completed between 1982 and 1992. This transition facilitated the first data deluge, which was considerably increased by the second and third generation of DNA-sequencers during the 2000s. However, the strategies for evaluating sequence data were also transformed along with this transition. The paper explores both the computational strategies of automation, as well as the data evaluation culture connected with it, in order to provide a complete picture of the complexity of today's data generation and its intrinsic data positivism. This paper is thereby guided by the question, whether this data positivism is the basis of the big data revolution of molecular biology announced today, or it marks the beginning of its data hubris.},
}

Algorithms
*Big Data
Data Science
History, 20th Century
History, 21st Century
Human Genome Project/history
Humans
Molecular Biology/*history
Sequence Analysis, DNA/*history/methods

@article {pmid28669541,
year = {2018},
author = {Rose, NC and Wick, M},
title = {Carrier screening for single gene disorders.},
journal = {Seminars in fetal & neonatal medicine},
volume = {23},
number = {2},
pages = {78-84},
doi = {10.1016/j.siny.2017.06.001},
pmid = {28669541},
issn = {1878-0946},
support = {P20 HG007249/HG/NHGRI NIH HHS/United States ; },
mesh = {Family Health/ethnology ; Female ; Founder Effect ; Genetic Carrier Screening/*history/methods/trends ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/ethnology/genetics/history ; Health Services Accessibility/history ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Male ; *Models, Genetic ; *Mutation ; Neonatal Screening/*methods/trends ; Preconception Care/methods/trends ; Prenatal Diagnosis/*methods/trends ; Whole Exome Sequencing ; },
abstract = {Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). ECS is panel-based screening, which analyzes carrier status for hundreds of genetic disorders irrespective of patient race or ethnicity. In this article, we review the historical and current aspects of carrier screening for single gene disorders, including future research directions.},
}

Family Health/ethnology
Female
Founder Effect
Genetic Carrier Screening/*history/methods/trends
Genetic Counseling/history/trends
Genetic Diseases, Inborn/*diagnosis/ethnology/genetics/history
Health Services Accessibility/history
History, 20th Century
History, 21st Century
Humans
Infant, Newborn
Male
*Models, Genetic
*Mutation
Neonatal Screening/*methods/trends
Preconception Care/methods/trends
Prenatal Diagnosis/*methods/trends
Whole Exome Sequencing

@article {pmid28513845,
year = {2017},
author = {Sancar, A},
title = {Claud S. Rupert (1919-2017): The Father of DNA Repair.},
journal = {Photochemistry and photobiology},
volume = {93},
number = {4},
pages = {1133-1134},
doi = {10.1111/php.12792},
pmid = {28513845},
issn = {1751-1097},
support = {R35 GM118102/GM/NIGMS NIH HHS/United States ; },
mesh = {*DNA Repair ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; },
}

*DNA Repair
History, 20th Century
History, 21st Century
Molecular Biology/*history
United States

@article {pmid27690769,
year = {2016},
author = {O'Malley, BW},
title = {Origins of the Field of Molecular Endocrinology: A Personal Perspective.},
journal = {Molecular endocrinology (Baltimore, Md.)},
volume = {30},
number = {10},
pages = {1015-1018},
pmid = {27690769},
issn = {1944-9917},
support = {R01 HD008188/HD/NICHD NIH HHS/United States ; },
mesh = {Animals ; Endocrinology/*history ; History, 20th Century ; History, 21st Century ; Hormones/metabolism ; Humans ; Molecular Biology/*history ; Receptors, Cell Surface/metabolism ; },
}

Animals
Endocrinology/*history
History, 20th Century
History, 21st Century
Hormones/metabolism
Humans
Molecular Biology/*history
Receptors, Cell Surface/metabolism

@article {pmid27690768,
year = {2016},
author = {Nilson, JH},
title = {Bidding a Fond Farwell to Molecular Endocrinology.},
journal = {Molecular endocrinology (Baltimore, Md.)},
volume = {30},
number = {10},
pages = {1023-1024},
doi = {10.1210/me.2016-1130},
pmid = {27690768},
issn = {1944-9917},
mesh = {Congresses as Topic/history ; Endocrinology/history/*trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*trends ; Periodicals as Topic/*history/*trends ; Societies, Scientific/history ; },
}

Congresses as Topic/history
Endocrinology/history/*trends
History, 20th Century
History, 21st Century
Molecular Biology/history/*trends
Periodicals as Topic/*history/*trends
Societies, Scientific/history

@article {pmid27690765,
year = {2016},
author = {Thompson, EB},
title = {Reflections on the Merger of Molecular Endocrinology and Endocrinology.},
journal = {Molecular endocrinology (Baltimore, Md.)},
volume = {30},
number = {10},
pages = {1019-1020},
doi = {10.1210/me.2016-1128},
pmid = {27690765},
issn = {1944-9917},
mesh = {Endocrinology/*history ; History, 20th Century ; Molecular Biology/*history ; Periodicals as Topic/*history ; Societies, Scientific/history ; },
}

Endocrinology/*history
History, 20th Century
Molecular Biology/*history
Periodicals as Topic/*history
Societies, Scientific/history

@article {pmid30200806,
year = {2018},
author = {Lieberman, J},
title = {Unveiling the RNA World.},
journal = {The New England journal of medicine},
volume = {379},
number = {13},
pages = {1278-1280},
doi = {10.1056/NEJMcibr1808725},
pmid = {30200806},
issn = {1533-4406},
mesh = {*Awards and Prizes ; Female ; History, 21st Century ; Humans ; Mentors/*history ; Molecular Biology/*history ; *RNA/physiology ; RNA, Small Untranslated/physiology ; Sexism/prevention & control ; United States ; },
}

*Awards and Prizes
Female
History, 21st Century
Humans
Mentors/*history
Molecular Biology/*history
*RNA/physiology
RNA, Small Untranslated/physiology
Sexism/prevention & control
United States

@article {pmid29927928,
year = {2018},
author = {Weinberg, SM and Cornell, R and Leslie, EJ},
title = {Craniofacial genetics: Where have we been and where are we going?.},
journal = {PLoS genetics},
volume = {14},
number = {6},
pages = {e1007438},
doi = {10.1371/journal.pgen.1007438},
pmid = {29927928},
issn = {1553-7404},
mesh = {Animals ; Craniofacial Abnormalities/*genetics ; Genetic Techniques/*trends ; Genetics/history/*trends ; Head/abnormalities/anatomy & histology/*growth & development ; History, 21st Century ; Humans ; Mice ; Models, Animal ; Zebrafish ; },
}

Animals
Craniofacial Abnormalities/*genetics
Genetic Techniques/*trends
Genetics/history/*trends
Head/abnormalities/anatomy & histology/*growth & development
History, 21st Century
Humans
Mice
Models, Animal
Zebrafish

@article {pmid29688222,
year = {2018},
author = {Jarvik, GP},
title = {Arno G. Motulsky, MD (1923-2018): Holocaust survivor who cofounded the field of medical genetics.},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
volume = {20},
number = {5},
pages = {477-479},
doi = {10.1038/gim.2018.55},
pmid = {29688222},
issn = {1530-0366},
mesh = {*Famous Persons ; France ; *Genetics, Medical/history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; United States ; },
}

*Famous Persons
France
*Genetics, Medical/history
Germany
History, 20th Century
History, 21st Century
Humans
United States

@article {pmid29686077,
year = {2018},
author = {Doctrow, B},
title = {QnAs with Howard Y. Chang.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {115},
number = {19},
pages = {4805-4806},
doi = {10.1073/pnas.1805691115},
pmid = {29686077},
issn = {1091-6490},
mesh = {Animals ; *Awards and Prizes ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; *RNA, Long Noncoding ; },
}

Animals
*Awards and Prizes
History, 21st Century
Humans
Molecular Biology/*history
Portraits as Topic
*RNA, Long Noncoding

@article {pmid29663716,
year = {2018},
author = {Elloumi-Zghal, H and Chaabouni Bouhamed, H},
title = {Genetics and genomic medicine in Tunisia.},
journal = {Molecular genetics & genomic medicine},
volume = {6},
number = {2},
pages = {134-159},
doi = {10.1002/mgg3.392},
pmid = {29663716},
issn = {2324-9269},
mesh = {Delivery of Health Care/trends ; Genetics/history/*trends ; Genomics/history/*trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Medicine/trends ; Tunisia/epidemiology ; },
}

Delivery of Health Care/trends
Genetics/history/*trends
Genomics/history/*trends
History, 19th Century
History, 20th Century
History, 21st Century
Humans
Medicine/trends
Tunisia/epidemiology

@article {pmid29663715,
year = {2018},
author = {Leppig, KA},
title = {Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.},
journal = {Molecular genetics & genomic medicine},
volume = {6},
number = {2},
pages = {129-133},
doi = {10.1002/mgg3.383},
pmid = {29663715},
issn = {2324-9269},
mesh = {Education ; Genetics/education/history ; Genetics, Medical/*trends ; History, 20th Century ; Humans ; International Cooperation/history ; Intersectoral Collaboration ; Social Behavior ; United States ; Vietnam ; },
}

Education
Genetics/education/history
Genetics, Medical/*trends
History, 20th Century
Humans
International Cooperation/history
Intersectoral Collaboration
Social Behavior
United States
Vietnam

@article {pmid29575103,
year = {2018},
author = {Hill, WG},
title = {Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.},
journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie},
volume = {135},
number = {2},
pages = {93-94},
doi = {10.1111/jbg.12320},
pmid = {29575103},
issn = {1439-0388},
mesh = {Algorithms ; Animals ; Biological Evolution ; Genetic Speciation ; Genetics/*history ; History, 19th Century ; Humans ; *Models, Genetic ; Models, Statistical ; },
}

Algorithms
Animals
Biological Evolution
Genetic Speciation
Genetics/*history
History, 19th Century
Humans
*Models, Genetic
Models, Statistical

@article {pmid29540437,
year = {2018},
author = {Ferguson-Smith, AC and Bartolomei, MS},
title = {Obituary: Denise Barlow (1950-2017).},
journal = {Development (Cambridge, England)},
volume = {145},
number = {5},
pages = {},
doi = {10.1242/dev.164616},
pmid = {29540437},
issn = {1477-9129},
mesh = {Animals ; Austria ; Developmental Biology/*history ; Epigenesis, Genetic ; Epigenomics/*history ; Genomic Imprinting/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; United Kingdom ; },
abstract = {Anne Ferguson-Smith and Marisa Bartolomei look back at the life and science of Denise Barlow, a pioneer in genomic imprinting and epigenetics.},
}

Animals
Austria
Developmental Biology/*history
Epigenesis, Genetic
Epigenomics/*history
Genomic Imprinting/*physiology
History, 20th Century
History, 21st Century
Humans
*Laboratory Personnel/history
United Kingdom

@article {pmid29538439,
year = {2018},
author = {Rusu, I and Modi, A and Vai, S and Pilli, E and Mircea, C and Radu, C and Urduzia, C and Pinter, ZK and Bodolică, V and Dobrinescu, C and Hervella, M and Popescu, O and Lari, M and Caramelli, D and Kelemen, B},
title = {Maternal DNA lineages at the gate of Europe in the 10th century AD.},
journal = {PloS one},
volume = {13},
number = {3},
pages = {e0193578},
doi = {10.1371/journal.pone.0193578},
pmid = {29538439},
issn = {1932-6203},
mesh = {Archaeology ; Bone and Bones/metabolism ; DNA, Mitochondrial/classification/genetics/isolation & purification/*metabolism ; European Continental Ancestry Group/*genetics ; Genetics, Population/history ; Haplotypes ; High-Throughput Nucleotide Sequencing ; History, Medieval ; Humans ; Phylogeny ; Principal Component Analysis ; Romania ; Sequence Analysis, DNA ; },
abstract = {Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We successfully amplified and typed the mitochondrial control region of 10 individuals. For five of them, we also reconstructed the complete mitochondrial genomes using hybridization-based DNA capture combined with Next Generation Sequencing. We have portrayed the genetic structure of the Capidava medieval population, represented by 10 individuals displaying 8 haplotypes (U5a1c2a, V1a, R0a2'3, H1, U3a, N9a9, H5e1a1, and H13a1a3). Remarkable for this site is the presence of both Central Asiatic (N9a) and common European mtDNA haplotypes, establishing Capidava as a point of convergence between East and West. The distribution of mtDNA lineages in the necropolis highlighted the existence of two groups of two individuals with close maternal relationships as they share the same haplotypes. We also sketch, using comparative statistical and population genetic analyses, the genetic relationships between the investigated dataset and other medieval and modern Eurasian populations.},
}

Archaeology
Bone and Bones/metabolism
DNA, Mitochondrial/classification/genetics/isolation & purification/*metabolism
European Continental Ancestry Group/*genetics
Genetics, Population/history
Haplotypes
High-Throughput Nucleotide Sequencing
History, Medieval
Humans
Phylogeny
Principal Component Analysis
Romania
Sequence Analysis, DNA

@article {pmid29526494,
year = {2018},
author = {Jones, ED},
title = {Ancient DNA: a history of the science before Jurassic Park.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {68-69},
number = {},
pages = {1-14},
doi = {10.1016/j.shpsc.2018.02.001},
pmid = {29526494},
issn = {1879-2499},
mesh = {Animals ; *DNA, Ancient ; Extinction, Biological ; *Fossils ; Genetics/*history ; History, 20th Century ; Invertebrates/genetics ; Plants/genetics ; Vertebrates/genetics ; },
}

Animals
*DNA, Ancient
Extinction, Biological
*Fossils
Genetics/*history
History, 20th Century
Invertebrates/genetics
Plants/genetics
Vertebrates/genetics

@article {pmid29487143,
year = {2018},
author = {Salzano, FM},
title = {The Evolution of Science in a Latin-American Country: Genetics and Genomics in Brazil.},
journal = {Genetics},
volume = {208},
number = {3},
pages = {823-832},
doi = {10.1534/genetics.118.300690},
pmid = {29487143},
issn = {1943-2631},
mesh = {Brazil ; *Genetics/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Science/history ; },
abstract = {This article begins with a brief overview of the history of Brazil and that of Brazilian science, from the European discovery of the country in 1500 up to the early 21st century. The history of the fields of genetics and genomics, from the 1930s, is then first examined from the focal point of the lives and publications of the three persons who are generally considered to be the founders of genetics in Brazil (C. A. Krug, F. G. Brieger, and A. Dreyfus), and then by 12 other researchers up to 1999. The area of molecular genetics and genomics from 2000 to present is then described. Despite the problems of underdevelopment and the periodical political and economic crises that have affected life in Brazil, the fields of genetics and genomics in Brazil can be regarded as having developed at an appropriate pace, and have contributed in several major ways to world science.},
}

Brazil
*Genetics/history
*Genomics/history
History, 20th Century
History, 21st Century
Humans
*Science/history

@article {pmid29483247,
year = {2018},
author = {Palkopoulou, E and Lipson, M and Mallick, S and Nielsen, S and Rohland, N and Baleka, S and Karpinski, E and Ivancevic, AM and To, TH and Kortschak, RD and Raison, JM and Qu, Z and Chin, TJ and Alt, KW and Claesson, S and Dalén, L and MacPhee, RDE and Meller, H and Roca, AL and Ryder, OA and Heiman, D and Young, S and Breen, M and Williams, C and Aken, BL and Ruffier, M and Karlsson, E and Johnson, J and Di Palma, F and Alfoldi, J and Adelson, DL and Mailund, T and Munch, K and Lindblad-Toh, K and Hofreiter, M and Poinar, H and Reich, D},
title = {A comprehensive genomic history of extinct and living elephants.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {115},
number = {11},
pages = {E2566-E2574},
doi = {10.1073/pnas.1720554115},
pmid = {29483247},
issn = {1091-6490},
support = {//Wellcome Trust/United Kingdom ; R01 GM100233/GM/NIGMS NIH HHS/United States ; U54 HG003067/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; WT098051//Wellcome Trust/United Kingdom ; WT108749/Z/15/Z//Wellcome Trust/United Kingdom ; },
mesh = {Animals ; Elephants/classification/*genetics ; Evolution, Molecular ; Extinction, Biological ; Fossils ; Gene Flow ; Genome ; Genomics/history ; History, Ancient ; Mammoths/classification/*genetics ; Mastodons/classification/*genetics ; Phylogeny ; },
abstract = {Elephantids are the world's most iconic megafaunal family, yet there is no comprehensive genomic assessment of their relationships. We report a total of 14 genomes, including 2 from the American mastodon, which is an extinct elephantid relative, and 12 spanning all three extant and three extinct elephantid species including an ∼120,000-y-old straight-tusked elephant, a Columbian mammoth, and woolly mammoths. Earlier genetic studies modeled elephantid evolution via simple bifurcating trees, but here we show that interspecies hybridization has been a recurrent feature of elephantid evolution. We found that the genetic makeup of the straight-tusked elephant, previously placed as a sister group to African forest elephants based on lower coverage data, in fact comprises three major components. Most of the straight-tusked elephant's ancestry derives from a lineage related to the ancestor of African elephants while its remaining ancestry consists of a large contribution from a lineage related to forest elephants and another related to mammoths. Columbian and woolly mammoths also showed evidence of interbreeding, likely following a latitudinal cline across North America. While hybridization events have shaped elephantid history in profound ways, isolation also appears to have played an important role. Our data reveal nearly complete isolation between the ancestors of the African forest and savanna elephants for ∼500,000 y, providing compelling justification for the conservation of forest and savanna elephants as separate species.},
}

Animals
Elephants/classification/*genetics
Evolution, Molecular
Extinction, Biological
Fossils
Gene Flow
Genome
Genomics/history
History, Ancient
Mammoths/classification/*genetics
Mastodons/classification/*genetics
Phylogeny

@article {pmid29457551,
year = {2018},
author = {},
title = {Alternative Genetics.},
journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
volume = {32},
number = {2},
pages = {537-539},
doi = {10.1096/fj.180201ufm},
pmid = {29457551},
issn = {1530-6860},
mesh = {Genetics/*history ; History, 20th Century ; Humans ; },
}

Genetics/*history
History, 20th Century
Humans

@article {pmid29445977,
year = {2018},
author = {Silva, L},
title = {A Brief History of Biochemical Genetics' 50 Years and a Reflection About Past and Present Research Directions.},
journal = {Biochemical genetics},
volume = {56},
number = {1-2},
pages = {1-6},
doi = {10.1007/s10528-018-9846-9},
pmid = {29445977},
issn = {1573-4927},
mesh = {Biochemistry/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Portraits as Topic ; },
}

Biochemistry/*history
Genetics/*history
History, 20th Century
History, 21st Century
Portraits as Topic

@article {pmid29410353,
year = {2018},
author = {Rose, JP and Kleist, TJ and Löfstrand, SD and Drew, BT and Schönenberger, J and Sytsma, KJ},
title = {Phylogeny, historical biogeography, and diversification of angiosperm order Ericales suggest ancient Neotropical and East Asian connections.},
journal = {Molecular phylogenetics and evolution},
volume = {122},
number = {},
pages = {59-79},
doi = {10.1016/j.ympev.2018.01.014},
pmid = {29410353},
issn = {1095-9513},
mesh = {Animals ; *Biodiversity ; Chloroplasts/genetics ; Far East ; Fossils/history ; Genetic Speciation ; History, Ancient ; Magnoliopsida/*classification/genetics ; Mitochondria/genetics ; *Phylogeny ; Phylogeography/history ; Ribosomes/genetics ; },
abstract = {Inferring interfamilial relationships within the eudicot order Ericales has remained one of the more recalcitrant problems in angiosperm phylogenetics, likely due to a rapid, ancient radiation. As a result, no comprehensive time-calibrated tree or biogeographical analysis of the order has been published. Here, we elucidate phylogenetic relationships within the order and then conduct time-dependent biogeographical and diversification analyses by using a taxon and locus-rich supermatrix approach on one-third of the extant species diversity calibrated with 23 macrofossils and two secondary calibration points. Our results corroborate previous studies and also suggest several new but poorly supported relationships. Newly suggested relationships are: (1) holoparasitic Mitrastemonaceae is sister to Lecythidaceae, (2) the clade formed by Mitrastemonaceae + Lecythidaceae is sister to Ericales excluding balsaminoids, (3) Theaceae is sister to the styracoids + sarracenioids + ericoids, and (4) subfamilial relationships with Ericaceae suggest that Arbutoideae is sister to Monotropoideae and Pyroloideae is sister to all subfamilies excluding Arbutoideae, Enkianthoideae, and Monotropoideae. Our results indicate Ericales began to diversify 110 Mya, within Indo-Malaysia and the Neotropics, with exchange between the two areas and expansion out of Indo-Malaysia becoming an important area in shaping the extant diversity of many families. Rapid cladogenesis occurred along the backbone of the order between 104 and 106 Mya. Jump dispersal is important within the order in the last 30 My, but vicariance is the most important cladogenetic driver of disjunctions at deeper levels of the phylogeny. We detect between 69 and 81 shifts in speciation rate throughout the order, the vast majority of which occurred within the last 30 My. We propose that range shifting may be responsible for older shifts in speciation rate, but more recent shifts may be better explained by morphological innovation.},
}

Animals
*Biodiversity
Chloroplasts/genetics
Far East
Fossils/history
Genetic Speciation
History, Ancient
Magnoliopsida/*classification/genetics
Mitochondria/genetics
*Phylogeny
Phylogeography/history
Ribosomes/genetics

@article {pmid29358548,
year = {2017},
author = {Singh, J},
title = {Amar Klar: A giant among scientists (1947-2017).},
journal = {Journal of biosciences},
volume = {42},
number = {3},
pages = {355-357},
pmid = {29358548},
issn = {0973-7138},
mesh = {Biochemistry ; DNA/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; },
}

Biochemistry
DNA/physiology
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history

@article {pmid29345074,
year = {2018},
author = {James, JW},
title = {A century later.},
journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie},
volume = {135},
number = {1},
pages = {1-2},
doi = {10.1111/jbg.12309},
pmid = {29345074},
issn = {1439-0388},
mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Statistical ; *Selection, Genetic ; },
}

Animals
Genetics/*history
History, 20th Century
History, 21st Century
Humans
*Models, Statistical
*Selection, Genetic

@article {pmid29339467,
year = {2018},
author = {Ravindran, S},
title = {Profile of Scott W. Lowe.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {115},
number = {4},
pages = {630-632},
doi = {10.1073/pnas.1721809115},
pmid = {29339467},
issn = {1091-6490},
mesh = {Genes, Neoplasm ; Genes, p53 ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*history/methods ; Oncogenes ; },
}

Genes, Neoplasm
Genes, p53
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Medical Oncology/*history/methods
Oncogenes

@article {pmid29310539,
year = {2017},
author = {Creager, ANH},
title = {A Chemical Reaction to the Historiography of Biology.},
journal = {Ambix},
volume = {64},
number = {4},
pages = {343-359},
doi = {10.1080/00026980.2017.1412136},
pmid = {29310539},
issn = {1745-8234},
mesh = {Biological Evolution ; Biology/*history ; Chemistry/*methods ; Genetics/history ; Historiography ; History, 20th Century ; History, 21st Century ; },
abstract = {This article examines the often-overlooked role of chemical ideas and practices in the history of modern biology. The first section analyses how the conventional histories of the life sciences have, through the twentieth century, come to focus nearly exclusively on evolutionary theory and genetics, and why this storyline is inadequate. The second section elaborates on what the restricted neo-Darwinian history of biology misses, noting a variety of episodes in the history of biology that relied on developments in - or tools from - chemistry, including an example from the author's own work. The diverse ways in which biologists have used chemical approaches often relate to the concrete, infrastructural side of research; a more inclusive history thus also connects to a historiography of materials and objects in science.},
}

Biological Evolution
Biology/*history
Chemistry/*methods
Genetics/history
Historiography
History, 20th Century
History, 21st Century

@article {pmid29299965,
year = {2017},
author = {Taskent, RO and Gokcumen, O},
title = {The Multiple Histories of Western Asia: Perspectives from Ancient and Modern Genomes.},
journal = {Human biology},
volume = {89},
number = {2},
pages = {107-117},
pmid = {29299965},
issn = {1534-6617},
mesh = {Africa/ethnology ; Anthropology/history ; Archaeology/history ; Asia/ethnology ; Asia, Western/ethnology ; Continental Population Groups/*genetics ; Europe/ethnology ; Genetic Variation/*genetics ; Genomics/*history/trends ; History, 20th Century ; History, 21st Century ; History, Ancient ; Human Migration/history ; Humans ; Sedentary Lifestyle/ethnology ; },
abstract = {Western Asia lies at the heart of the Old World, in the midst of Africa, Asia, and Europe. As such, this region has been populated and repopulated by myriad peoples, starting with the first migrants from Africa. All evidence points to Western Asia for the beginnings of sedentary life, and indeed, first the villages and later the cities of this land remain as archaeological wonders, revealing complex histories of multiple peoples and their interactions. With the wondrous breakthroughs in genomic studies, we now have the power to look at these histories with a truly quantitative lens. Here, we review the recent anthropological genomics literature pertaining to this region, with an outlook for the future challenges and exciting possibilities for the field.},
}

Africa/ethnology
Anthropology/history
Archaeology/history
Asia/ethnology
Asia, Western/ethnology
Continental Population Groups/*genetics
Europe/ethnology
Genetic Variation/*genetics
Genomics/*history/trends
History, 20th Century
History, 21st Century
History, Ancient
Human Migration/history
Humans
Sedentary Lifestyle/ethnology

@article {pmid29299963,
year = {2017},
author = {Vukelic, A and Cohen, JA and Sullivan, AP and Perry, GH},
title = {Extending Genome-Wide Association Study Results to Test Classic Anthropological Hypotheses: Human Third Molar Agenesis and the "Probable Mutation Effect".},
journal = {Human biology},
volume = {89},
number = {2},
pages = {157-169},
pmid = {29299963},
issn = {1534-6617},
mesh = {Adult ; Animals ; Anodontia/*epidemiology/history ; Anthropology/history ; Biological Evolution ; Brain/anatomy & histology ; Facial Bones/anatomy & histology ; Genetics, Population/history ; Genome-Wide Association Study/*methods ; Genomics/methods ; History, Ancient ; Hominidae/genetics ; Humans ; Japan/epidemiology ; Molar, Third/*abnormalities ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Probability ; Republic of Korea/epidemiology ; Tooth, Impacted/*genetics ; },
abstract = {A genome-wide association study (GWAS) identifies regions of the genome that likely affect the variable state of a phenotype of interest. These regions can then be studied with population genetic methods to make inferences about the evolutionary history of the trait. There are increasing opportunities to use GWAS results-even from clinically motivated studies-for tests of classic anthropological hypotheses. One such example, presented here as a case study for this approach, involves tooth development variation related to dental crowding. Specifically, more than 10% of humans fail to develop one or more permanent third molars (M3 agenesis). M3 presence/absence variation within human populations has a significant genetic component (heritability estimate h 2 = 0.47). The evolutionary significance of M3 agenesis has a long history of anthropological speculation. First, the modern frequency of M3 agenesis could reflect a relaxation of selection pressure to retain larger and more teeth following the origins of cooking and other food-softening behaviors (i.e., the genetic drift hypothesis or, classically, the "probable mutation effect"). Alternatively, commensurate with increasing hominin brain size and facial shortening, M3 agenesis may have conferred an adaptive fitness advantage if it reduced the risk of M3 impaction and potential health complications (i.e., the positive selection hypothesis). A recent GWAS identified 70 genetic loci that may play a role in human M3 presence/absence variation. To begin evaluating the contrasting evolutionary scenarios for M3 agenesis, we used the integrated haplotype score (iHS) statistic to test whether those 70 genetic regions are enriched for genomic signatures of recent positive selection. None of our findings are inconsistent with the null hypothesis of genetic drift to explain the high prevalence of human M3 agenesis. This result might suggest that M3 impaction rates for modern humans do not accurately retrodict those of the preagricultural past. Alternatively, the absence of support for the positive selection hypothesis could reflect a lack of power; this analysis should be repeated following the completion of more comprehensive GWAS analyses for human M3 agenesis.},
}

Adult
Animals
Anodontia/*epidemiology/history
Anthropology/history
Biological Evolution
Brain/anatomy & histology
Facial Bones/anatomy & histology
Genetics, Population/history
Genome-Wide Association Study/*methods
Genomics/methods
History, Ancient
Hominidae/genetics
Humans
Japan/epidemiology
Molar, Third/*abnormalities
Mutation
Phenotype
Polymorphism, Single Nucleotide/genetics
Probability
Republic of Korea/epidemiology
Tooth, Impacted/*genetics

@article {pmid29297886,
year = {2017},
author = {Harper, PS},
title = {Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992-2017).},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S2-S5},
doi = {10.1038/ejhg.2017.141},
pmid = {29297886},
issn = {1476-5438},
mesh = {Awards and Prizes ; Cloning, Organism/*ethics ; Europe ; History, 20th Century ; History, 21st Century ; Human Experimentation/*ethics ; Human Genetics/*history/manpower/trends ; Humans ; Patents as Topic ; Practice Guidelines as Topic ; Societies, Scientific/*history/organization & administration ; },
}

Awards and Prizes
Cloning, Organism/*ethics
Europe
History, 20th Century
History, 21st Century
Human Experimentation/*ethics
Human Genetics/*history/manpower/trends
Humans
Patents as Topic
Practice Guidelines as Topic
Societies, Scientific/*history/organization & administration

@article {pmid29297885,
year = {2017},
author = {Cassiman, JJ},
title = {EuroGentest NoE, the ESHG, and genetic services.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S47-S49},
doi = {10.1038/ejhg.2017.155},
pmid = {29297885},
issn = {1476-5438},
mesh = {Committee Membership ; Databases, Genetic ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/*methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Committee Membership
Databases, Genetic
Europe
Genetic Counseling/*organization & administration
Genetic Testing/*methods
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297884,
year = {2017},
author = {Donnai, D},
title = {Dysmorphology and the ESHG.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S33-S34},
doi = {10.1038/ejhg.2017.161},
pmid = {29297884},
issn = {1476-5438},
mesh = {Congenital Abnormalities/*diagnosis/genetics/history/pathology ; Consensus Development Conferences as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Image Interpretation, Computer-Assisted/*methods ; Societies, Scientific/*history/organization & administration ; },
}

Congenital Abnormalities/*diagnosis/genetics/history/pathology
Consensus Development Conferences as Topic
Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
Image Interpretation, Computer-Assisted/*methods
Societies, Scientific/*history/organization & administration

@article {pmid29297883,
year = {2017},
author = {Brunner, H},
title = {The annual meeting 1988-2017.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S35-S36},
doi = {10.1038/ejhg.2017.150},
pmid = {29297883},
issn = {1476-5438},
mesh = {*Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Organizational Policy ; *Posters as Topic ; Societies, Scientific/*history/organization & administration ; },
}

*Congresses as Topic
Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
Organizational Policy
*Posters as Topic
Societies, Scientific/*history/organization & administration

@article {pmid29297882,
year = {2017},
author = {Pignatti, PF and Ramos, FJ},
title = {Involving the European National Human Genetics Societies.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S39-S42},
doi = {10.1038/ejhg.2017.152},
pmid = {29297882},
issn = {1476-5438},
mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Societies, Scientific/*history/statistics & numerical data ; },
}

Committee Membership
*Congresses as Topic
Europe
History, 21st Century
Human Genetics/*history/manpower
Humans
Societies, Scientific/*history/statistics & numerical data

@article {pmid29297881,
year = {2017},
author = {Pembrey, M},
title = {The creation of the International Federation of Human Genetics Societies in 1995-1996.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S43-S44},
doi = {10.1038/ejhg.2017.153},
pmid = {29297881},
issn = {1476-5438},
mesh = {Committee Membership ; History, 20th Century ; Human Genetics/*history/manpower ; Humans ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; World Health Organization ; },
}

Committee Membership
History, 20th Century
Human Genetics/*history/manpower
Humans
*Practice Guidelines as Topic
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration
World Health Organization

@article {pmid29297880,
year = {2017},
author = {Cassiman, JJ},
title = {The growth of the IFHGS after 2000.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S45-S46},
doi = {10.1038/ejhg.2017.154},
pmid = {29297880},
issn = {1476-5438},
mesh = {Committee Membership ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; International Cooperation ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Committee Membership
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
International Cooperation
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297879,
year = {2017},
author = {Aymé, S and Cornel, MC},
title = {The development of the public and professional policy committee.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S29-S32},
doi = {10.1038/ejhg.2017.160},
pmid = {29297879},
issn = {1476-5438},
mesh = {Databases, Nucleic Acid/history/organization & administration ; Europe ; High-Throughput Nucleotide Sequencing/history/instrumentation/methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Human Genome Project/history ; Humans ; *Organizational Policy ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Databases, Nucleic Acid/history/organization & administration
Europe
High-Throughput Nucleotide Sequencing/history/instrumentation/methods
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Human Genome Project/history
Humans
*Organizational Policy
*Practice Guidelines as Topic
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297878,
year = {2017},
author = {van Ommen, G},
title = {The development and growth of EJHG 1995-2017.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S23-S26},
doi = {10.1038/ejhg.2017.146},
pmid = {29297878},
issn = {1476-5438},
mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; *Organizational Policy ; Professional Staff Committees/history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
*Organizational Policy
Professional Staff Committees/history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297877,
year = {2017},
author = {Read, AP},
title = {Read's Recall: Shuffling abstracts - and foundations.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S27-S28},
doi = {10.1038/ejhg.2017.149},
pmid = {29297877},
issn = {1476-5438},
mesh = {Abstracting and Indexing as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; *Organizational Policy ; Societies, Scientific/*history/organization & administration ; },
}

Abstracting and Indexing as Topic
Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
*Organizational Policy
Societies, Scientific/*history/organization & administration

@article {pmid29297876,
year = {2017},
author = {Skirton, H},
title = {The European Board of Medical Genetics: development of a professional registration system in Europe.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S51-S52},
doi = {10.1038/ejhg.2017.158},
pmid = {29297876},
issn = {1476-5438},
mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/methods ; Genetics, Medical/*history/manpower ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Specialty Boards/*history/organization & administration ; },
}

Committee Membership
Europe
Genetic Counseling/*organization & administration
Genetic Testing/methods
Genetics, Medical/*history/manpower
History, 20th Century
History, 21st Century
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration
Specialty Boards/*history/organization & administration

@article {pmid29297875,
year = {2017},
author = {Kristoffersson, U and Macek, M},
title = {From Mendel to Medical Genetics.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S53-S59},
doi = {10.1038/ejhg.2017.157},
pmid = {29297875},
issn = {1476-5438},
mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/methods ; Genetics, Medical/*history/manpower ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Specialty Boards/*history/organization & administration ; },
}

Committee Membership
Europe
Genetic Counseling/*organization & administration
Genetic Testing/methods
Genetics, Medical/*history/manpower
History, 20th Century
History, 21st Century
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration
Specialty Boards/*history/organization & administration

@article {pmid29297874,
year = {2017},
author = {Houge, G and Del Picchia, J},
title = {The inner life and structure of ESHG.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S16-S19},
doi = {10.1038/ejhg.2017.144},
pmid = {29297874},
issn = {1476-5438},
mesh = {Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Congresses as Topic
Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297873,
year = {2017},
author = {van Ommen, G and Rice, M},
title = {The ESHG's second quarter century: consolidation and growth-the period covering 1992-2017.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S1},
doi = {10.1038/ejhg.2017.140},
pmid = {29297873},
issn = {1476-5438},
mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/manpower/trends ; Humans ; Societies, Scientific/*history/organization & administration ; },
}

Europe
History, 20th Century
History, 21st Century
Human Genetics/*history/manpower/trends
Humans
Societies, Scientific/*history/organization & administration

@article {pmid29297872,
year = {2017},
author = {Pembrey, M},
title = {Those wonderful school days in Sestri Levante!.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S13-S15},
doi = {10.1038/ejhg.2017.143},
pmid = {29297872},
issn = {1476-5438},
mesh = {Congresses as Topic ; Europe ; Genetics, Medical/*history/manpower ; History, 20th Century ; Humans ; Societies, Scientific/*history ; },
}

Congresses as Topic
Europe
Genetics, Medical/*history/manpower
History, 20th Century
Humans
Societies, Scientific/*history

@article {pmid29297871,
year = {2017},
author = {Kääriäinen, H and Houge, G},
title = {Secretary Generals on recent ESHG presidents (2003-2015).},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S20-S22},
doi = {10.1038/ejhg.2017.145},
pmid = {29297871},
issn = {1476-5438},
mesh = {Europe ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Personnel Management/*manpower ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Europe
History, 21st Century
Human Genetics/*history/manpower
Humans
Personnel Management/*manpower
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297870,
year = {2017},
author = {Romeo, G and Passarge, E and de la Chapelle, A},
title = {The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S6-S12},
doi = {10.1038/ejhg.2017.142},
pmid = {29297870},
issn = {1476-5438},
mesh = {Europe ; Genetics, Medical/*history/manpower/trends ; History, 20th Century ; Humans ; Societies, Scientific/*history/organization & administration ; },
}

Europe
Genetics, Medical/*history/manpower/trends
History, 20th Century
Humans
Societies, Scientific/*history/organization & administration

@article {pmid29297869,
year = {2017},
author = {Burn, J},
title = {Recognition of clinical genetics in Europe.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S50},
doi = {10.1038/ejhg.2017.156},
pmid = {29297869},
issn = {1476-5438},
mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/*methods ; Genetics, Medical/*history/manpower ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Committee Membership
Europe
Genetic Counseling/*organization & administration
Genetic Testing/*methods
Genetics, Medical/*history/manpower
History, 20th Century
History, 21st Century
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29297868,
year = {2017},
author = {Wirth, B},
title = {Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.},
journal = {European journal of human genetics : EJHG},
volume = {25},
number = {s2},
pages = {S37-S38},
doi = {10.1038/ejhg.2017.151},
pmid = {29297868},
issn = {1476-5438},
mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history/manpower ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; },
}

Committee Membership
*Congresses as Topic
Europe
History, 21st Century
Human Genetics/*history/manpower
Humans
Professional Staff Committees/*history/organization & administration
Societies, Scientific/*history/organization & administration

@article {pmid29293741,
year = {2017},
author = {Collier, RJ and Bauman, DE},
title = {TRIENNIAL LACTATION SYMPOSIUM/BOLFA:Historical perspectives of lactation biology in the late 20th and early 21st centuries.},
journal = {Journal of animal science},
volume = {95},
number = {12},
pages = {5639-5652},
doi = {10.2527/jas2017.1875},
pmid = {29293741},
issn = {1525-3163},
mesh = {Animals ; Cattle/genetics/*physiology ; Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; *Lactation ; Mammary Glands, Animal/physiology ; Metabolomics/*history ; Milk/*chemistry/metabolism ; Systems Biology/*history ; },
abstract = {The latter half of the 20th century and the early portion of the 21st century will be recognized as the "Golden Age" of lactation biology. This period corresponded with the rise of systemic, metabolomic, molecular, and genomic biology. It includes the discovery of the structure of DNA and ends with the sequencing of the complete genomes of humans and all major domestic animal species including the dairy cow. This included the ability to identify polymorphisms in the nucleic acid sequence, which can be tied to specific differences in cellular, tissue, and animal performance. Before this period, classical work using endocrine ablation and replacement studies identified the mammary gland as an endocrine-dependent organ. In the early 1960s, the development of RIA and radioreceptor assays permitted the study of the relationship between endocrine patterns and mammary function. The ability to measure nucleic acid content of tissues opened the door to study of the factors regulating mammary growth. The development of high-speed centrifugation in the 1960s allowed separation of specific cell organelles and their membranes. The development of transmission and scanning electron microscopy permitted the study of the relationship between structure and function in the mammary secretory cell. The availability of radiolabeled metabolites provided the opportunity to investigate the metabolic pathways and their regulation. The development of concepts regarding the coordination of metabolism to support lactation integrated our understanding of nutrient partitioning and homeostasis. The ability to produce recombinant molecules and organisms permitted enhancement of lactation in farm animal species and the production of milk containing proteins of value to human medicine. These discoveries and others contributed to vastly increased dairy farm productivity in the United States and worldwide. This review will include the discussion of the centers of excellence and scientists who labored in these fields to produce the harvest of knowledge we enjoy today.},
}

Animals
Cattle/genetics/*physiology
Female
Genomics/*history
History, 20th Century
History, 21st Century
*Lactation
Mammary Glands, Animal/physiology
Metabolomics/*history
Milk/*chemistry/metabolism
Systems Biology/*history

@article {pmid29288271,
year = {2017},
author = {Jager, MJ},
title = {Introducing Johanna M. Seddon, the 2017 Recipient of the Mildred Weisenfeld Award.},
journal = {Investigative ophthalmology & visual science},
volume = {58},
number = {14},
pages = {6510-6512},
doi = {10.1167/iovs.17-23542},
pmid = {29288271},
issn = {1552-5783},
mesh = {*Awards and Prizes ; History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; Netherlands ; Ophthalmology/*history ; Societies, Scientific/*history ; Wet Macular Degeneration/*history ; },
}

*Awards and Prizes
History, 20th Century
History, 21st Century
Molecular Epidemiology/*history
Netherlands
Ophthalmology/*history
Societies, Scientific/*history
Wet Macular Degeneration/*history

@article {pmid29283633,
year = {2017},
author = {},
title = {Award for Distinguished Scientific Early Career Contributions to Psychology: Kathryn Paige Harden.},
journal = {The American psychologist},
volume = {72},
number = {9},
pages = {898-900},
doi = {10.1037/amp0000271},
pmid = {29283633},
issn = {1935-990X},
mesh = {*Awards and Prizes ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Human Development ; Humans ; Psychology/*history ; United States ; },
abstract = {The APA Awards for Distinguished Scientific Early Career Contributions to Psychology recognize psychologists who have demonstrated excellence early in their careers and have held a doctoral degree for no more than 9 years. One of the 2017 award winners is Kathryn Paige Harden, for demonstrating "how to integrate genetic knowledge with the classical clinical and developmental insights into human behavior." Harden's award citation, biography, and a selected bibliography are presented here. (PsycINFO Database Record},
}

*Awards and Prizes
Genetics, Behavioral/history
History, 20th Century
History, 21st Century
Human Development
Humans
Psychology/*history
United States

@article {pmid29283628,
year = {2017},
author = {},
title = {Distinguished Scientific Contributions: Robert Plomin.},
journal = {The American psychologist},
volume = {72},
number = {9},
pages = {885-887},
doi = {10.1037/amp0000268},
pmid = {29283628},
issn = {1935-990X},
mesh = {*Awards and Prizes ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Psychology/*history ; United States ; },
abstract = {The American Psychological Association Awards for Distinguished Scientific Contributions are presented to persons who, in the opinion of the Committee on Scientific Awards, have made distinguished theoretical or empirical contributions to basic research in psychology. Robert Plomin is a recipient of the 2017 award "for leading the transformation of behavioral genetics from an isolated and sometimes vilified scientific outpost to a fully integrated mainstay of scientific psychology." Plomin's award citation, biography, and a selected bibliography are presented here. (PsycINFO Database Record},
}

*Awards and Prizes
Genetics, Behavioral/*history
History, 20th Century
History, 21st Century
Psychology/*history
United States

@article {pmid29277272,
year = {2018},
author = {Carter, AM},
title = {Classics revisited: Miguel Fernández on germ layer inversion and specific polyembryony in armadillos.},
journal = {Placenta},
volume = {61},
number = {},
pages = {55-60},
doi = {10.1016/j.placenta.2017.11.006},
pmid = {29277272},
issn = {1532-3102},
mesh = {Anatomy, Comparative/*history ; Animals ; Argentina ; Armadillos/*embryology/growth & development/physiology ; Embryology/*history ; *Embryonic Development ; Extraembryonic Membranes/cytology/embryology/physiology ; Female ; Genetic Research/history ; Germ Layers/cytology/*embryology/physiology ; History, 20th Century ; Male ; Placentation ; Pregnancy ; Species Specificity ; *Twinning, Monozygotic ; Yolk Sac/cytology/embryology/physiology ; Zoology/*history ; },
abstract = {BACKGROUND: Miguel Fernández was an Argentinian zoologist who published the first account of obligate polyembryony in armadillos. His contribution is here discussed in relation to his contemporaries, Newman and Patterson, and more recent work.

FINDINGS: Fernandez worked on the mulita (Dasypus hybridus). He was able to get early stages before twinning occurred and show it was preceded by inversion of the germ layers. By the primitive streak stage there were separate embryonic shields and partition of the amnion. There was, however, a single exocoelom and all embryos were enclosed in a common set of membranes comprising chorion towards the attachment site in the uterine fundus and inverted yolk sac on the opposite face. He showed that monozygotic twinning did not occur in another armadillo, the peludo (Chaetophractus villosus).

CONCLUSIONS: Fernández's work represented a major breakthrough in understanding how twinning occurred in armadillos. His work and that of others is of intrinsic interest to zoologists and has a direct bearing on the origin of monozygotic twins and birth defects in humans.},
}

Anatomy, Comparative/*history
Animals
Argentina
Armadillos/*embryology/growth & development/physiology
Embryology/*history
*Embryonic Development
Extraembryonic Membranes/cytology/embryology/physiology
Female
Genetic Research/history
Germ Layers/cytology/*embryology/physiology
History, 20th Century
Male
Placentation
Pregnancy
Species Specificity
*Twinning, Monozygotic
Yolk Sac/cytology/embryology/physiology
Zoology/*history

@article {pmid29251435,
year = {2017},
author = {Chenette, EJ},
title = {Announcing the winners of our 50th Anniversary Science Communication Competition.},
journal = {The FEBS journal},
volume = {284},
number = {24},
pages = {4172-4173},
doi = {10.1111/febs.14329},
pmid = {29251435},
issn = {1742-4658},
mesh = {Audiovisual Aids ; *Awards and Prizes ; Biological Science Disciplines/*history ; Europe ; History, 21st Century ; Mexico ; Molecular Biology/history ; Motion Pictures ; Neurosciences/history ; Posters as Topic ; Singapore ; *Societies, Scientific ; },
abstract = {The FEBS Journal is pleased to announce the three winners of its 50th Anniversary Science Communication Competition. Read on to see their prize-winning entries!},
}

Audiovisual Aids
*Awards and Prizes
Biological Science Disciplines/*history
Europe
History, 21st Century
Mexico
Molecular Biology/history
Motion Pictures
Neurosciences/history
Posters as Topic
Singapore
*Societies, Scientific