Literature DB >> 32616565

Embracing human genetics: a primer for developmental biologists.

Elizabeth J Leslie1.   

Abstract

Understanding the etiology of congenital disorders requires interdisciplinary research and close collaborations between clinicians, geneticists and developmental biologists. The pace of gene discovery has quickened due to advances in sequencing technology, resulting in a wealth of publicly available sequence data but also a gap between gene discovery and crucial mechanistic insights provided by studies in model systems. In this Spotlight, I highlight the opportunities for developmental biologists to engage with human geneticists and genetic resources to advance the study of congenital disorders.
© 2020. Published by The Company of Biologists Ltd.

Entities:  

Keywords:  Birth defects; Congenital disorders; Genetics databases; Human genetics

Mesh:

Year:  2020        PMID: 32616565      PMCID: PMC7338264          DOI: 10.1242/dev.191114

Source DB:  PubMed          Journal:  Development        ISSN: 0950-1991            Impact factor:   6.868


  35 in total

1.  Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.

Authors:  Nicola Whiffin; James S Ware; Anne O'Donnell-Luria
Journal:  JAMA       Date:  2019-10-01       Impact factor: 56.272

2.  SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.

Authors:  Kari A Mattison; Kameryn M Butler; George Andrew S Inglis; Oshrat Dayan; Hanna Boussidan; Vikas Bhambhani; Bryan Philbrook; Cristina da Silva; John J Alexander; Baruch I Kanner; Andrew Escayg
Journal:  Epilepsia       Date:  2018-08-21       Impact factor: 5.864

3.  The relevance and potential roles of microphysiological systems in biology and medicine.

Authors:  John P Wikswo
Journal:  Exp Biol Med (Maywood)       Date:  2014-09

4.  GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Authors:  Nara Sobreira; François Schiettecatte; David Valle; Ada Hamosh
Journal:  Hum Mutat       Date:  2015-08-13       Impact factor: 4.878

5.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors:  Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal:  Am J Hum Genet       Date:  2009-04-02       Impact factor: 11.025

6.  De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Authors:  Kameryn M Butler; Olivia A Moody; Elisabeth Schuler; Jason Coryell; John J Alexander; Andrew Jenkins; Andrew Escayg
Journal:  Brain       Date:  2018-08-01       Impact factor: 13.501

7.  International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors:  Kym M Boycott; Ana Rath; Jessica X Chong; Taila Hartley; Fowzan S Alkuraya; Gareth Baynam; Anthony J Brookes; Michael Brudno; Angel Carracedo; Johan T den Dunnen; Stephanie O M Dyke; Xavier Estivill; Jack Goldblatt; Catherine Gonthier; Stephen C Groft; Ivo Gut; Ada Hamosh; Philip Hieter; Sophie Höhn; Matthew E Hurles; Petra Kaufmann; Bartha M Knoppers; Jeffrey P Krischer; Milan Macek; Gert Matthijs; Annie Olry; Samantha Parker; Justin Paschall; Anthony A Philippakis; Heidi L Rehm; Peter N Robinson; Pak-Chung Sham; Rumen Stefanov; Domenica Taruscio; Divya Unni; Megan R Vanstone; Feng Zhang; Han Brunner; Michael J Bamshad; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Authors:  Elaine T Lim; Peter Würtz; Aki S Havulinna; Priit Palta; Taru Tukiainen; Karola Rehnström; Tõnu Esko; Reedik Mägi; Michael Inouye; Tuuli Lappalainen; Yingleong Chan; Rany M Salem; Monkol Lek; Jason Flannick; Xueling Sim; Alisa Manning; Claes Ladenvall; Suzannah Bumpstead; Eija Hämäläinen; Kristiina Aalto; Mikael Maksimow; Marko Salmi; Stefan Blankenberg; Diego Ardissino; Svati Shah; Benjamin Horne; Ruth McPherson; Gerald K Hovingh; Muredach P Reilly; Hugh Watkins; Anuj Goel; Martin Farrall; Domenico Girelli; Alex P Reiner; Nathan O Stitziel; Sekar Kathiresan; Stacey Gabriel; Jeffrey C Barrett; Terho Lehtimäki; Markku Laakso; Leif Groop; Jaakko Kaprio; Markus Perola; Mark I McCarthy; Michael Boehnke; David M Altshuler; Cecilia M Lindgren; Joel N Hirschhorn; Andres Metspalu; Nelson B Freimer; Tanja Zeller; Sirpa Jalkanen; Seppo Koskinen; Olli Raitakari; Richard Durbin; Daniel G MacArthur; Veikko Salomaa; Samuli Ripatti; Mark J Daly; Aarno Palotie
Journal:  PLoS Genet       Date:  2014-07-31       Impact factor: 5.917

10.  A framework for the interpretation of de novo mutation in human disease.

Authors:  Kaitlin E Samocha; Elise B Robinson; Stephan J Sanders; Christine Stevens; Aniko Sabo; Lauren M McGrath; Jack A Kosmicki; Karola Rehnström; Swapan Mallick; Andrew Kirby; Dennis P Wall; Daniel G MacArthur; Stacey B Gabriel; Mark DePristo; Shaun M Purcell; Aarno Palotie; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Richard A Gibbs; Gerard D Schellenberg; James S Sutcliffe; Bernie Devlin; Kathryn Roeder; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2014-08-03       Impact factor: 38.330

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