Literature DB >> 31915397

A brief history of human disease genetics.

Melina Claussnitzer1,2,3, Judy H Cho4,5,6, Rory Collins7,8, Nancy J Cox9, Emmanouil T Dermitzakis10,11, Matthew E Hurles12, Sekar Kathiresan2,13,14, Eimear E Kenny4,6,15, Cecilia M Lindgren2,16,17, Daniel G MacArthur2,13,18, Kathryn N North19,20, Sharon E Plon21,22, Heidi L Rehm2,13,18,23, Neil Risch24, Charles N Rotimi25, Jay Shendure26,27,28, Nicole Soranzo12,29, Mark I McCarthy30,31,32,33.   

Abstract

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.

Entities:  

Mesh:

Year:  2020        PMID: 31915397      PMCID: PMC7405896          DOI: 10.1038/s41586-019-1879-7

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  147 in total

1.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

2.  The complete genome of an individual by massively parallel DNA sequencing.

Authors:  David A Wheeler; Maithreyan Srinivasan; Michael Egholm; Yufeng Shen; Lei Chen; Amy McGuire; Wen He; Yi-Ju Chen; Vinod Makhijani; G Thomas Roth; Xavier Gomes; Karrie Tartaro; Faheem Niazi; Cynthia L Turcotte; Gerard P Irzyk; James R Lupski; Craig Chinault; Xing-zhi Song; Yue Liu; Ye Yuan; Lynne Nazareth; Xiang Qin; Donna M Muzny; Marcel Margulies; George M Weinstock; Richard A Gibbs; Jonathan M Rothberg
Journal:  Nature       Date:  2008-04-17       Impact factor: 49.962

3.  A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.

Authors:  B Kremer; P Goldberg; S E Andrew; J Theilmann; H Telenius; J Zeisler; F Squitieri; B Lin; A Bassett; E Almqvist
Journal:  N Engl J Med       Date:  1994-05-19       Impact factor: 91.245

4.  Huntington's disease and repeating trinucleotides.

Authors:  J F Gusella; M E MacDonald
Journal:  N Engl J Med       Date:  1994-05-19       Impact factor: 91.245

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.  Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Authors:  Kimberly Splinter; David R Adams; Carlos A Bacino; Hugo J Bellen; Jonathan A Bernstein; Alys M Cheatle-Jarvela; Christine M Eng; Cecilia Esteves; William A Gahl; Rizwan Hamid; Howard J Jacob; Bijal Kikani; David M Koeller; Isaac S Kohane; Brendan H Lee; Joseph Loscalzo; Xi Luo; Alexa T McCray; Thomas O Metz; John J Mulvihill; Stanley F Nelson; Christina G S Palmer; John A Phillips; Leslie Pick; John H Postlethwait; Chloe Reuter; Vandana Shashi; David A Sweetser; Cynthia J Tifft; Nicole M Walley; Michael F Wangler; Monte Westerfield; Matthew T Wheeler; Anastasia L Wise; Elizabeth A Worthey; Shinya Yamamoto; Euan A Ashley
Journal:  N Engl J Med       Date:  2018-10-10       Impact factor: 91.245

7.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:  Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; Huub Straatman; Walter van der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny M A van Ravenswaaij-Arts; Nine V Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2003-11-18       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.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

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  126 in total

Review 1.  Unraveling Hematopoiesis through the Lens of Genomics.

Authors:  L Alexander Liggett; Vijay G Sankaran
Journal:  Cell       Date:  2020-09-17       Impact factor: 41.582

2.  Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.

Authors:  Morris Hilary Scantlebury; Karlene Tanechia Barrett; Simeona Jacinto; David Orlando Christopher Corbin; Marina Kerr; Aneal Khan
Journal:  Pan Afr Med J       Date:  2021-02-03

3.  Genetic risk factors of ME/CFS: a critical review.

Authors:  Joshua J Dibble; Simon J McGrath; Chris P Ponting
Journal:  Hum Mol Genet       Date:  2020-09-30       Impact factor: 6.150

4.  A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.

Authors:  Ryan S Dhindsa; Anthony W Zoghbi; Daniel K Krizay; Chirag Vasavda; David B Goldstein
Journal:  Ann Neurol       Date:  2020-11-18       Impact factor: 10.422

5.  Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Authors:  Simon Easteal; Ruth M Arkell; Renzo F Balboa; Shayne A Bellingham; Alex D Brown; Tom Calma; Matthew C Cook; Megan Davis; Hugh J S Dawkins; Marcel E Dinger; Michael S Dobbie; Ashley Farlow; Kylie G Gwynne; Azure Hermes; Wendy E Hoy; Misty R Jenkins; Simon H Jiang; Warren Kaplan; Stephen Leslie; Bastien Llamas; Graham J Mann; Brendan J McMorran; Rebekah E McWhirter; Cliff J Meldrum; Shivashankar H Nagaraj; Saul J Newman; Jack S Nunn; Lyndon Ormond-Parker; Neil J Orr; Devashi Paliwal; Hardip R Patel; Glenn Pearson; Greg R Pratt; Boe Rambaldini; Lynette W Russell; Ravi Savarirayan; Matthew Silcocks; John C Skinner; Yassine Souilmi; Carola G Vinuesa; Gareth Baynam
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

Review 6.  Strategic vision for improving human health at The Forefront of Genomics.

Authors:  Eric D Green; Chris Gunter; Leslie G Biesecker; Valentina Di Francesco; Carla L Easter; Elise A Feingold; Adam L Felsenfeld; David J Kaufman; Elaine A Ostrander; William J Pavan; Adam M Phillippy; Anastasia L Wise; Jyoti Gupta Dayal; Britny J Kish; Allison Mandich; Christopher R Wellington; Kris A Wetterstrand; Sarah A Bates; Darryl Leja; Susan Vasquez; William A Gahl; Bettie J Graham; Daniel L Kastner; Paul Liu; Laura Lyman Rodriguez; Benjamin D Solomon; Vence L Bonham; Lawrence C Brody; Carolyn M Hutter; Teri A Manolio
Journal:  Nature       Date:  2020-10-28       Impact factor: 49.962

Review 7.  In The Blood: Connecting Variant to Function In Human Hematopoiesis.

Authors:  Satish K Nandakumar; Xiaotian Liao; Vijay G Sankaran
Journal:  Trends Genet       Date:  2020-06-10       Impact factor: 11.639

8.  Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Authors:  Emma Jones; Holger Hummerich; Emmanuelle Viré; James Uphill; Athanasios Dimitriadis; Helen Speedy; Tracy Campbell; Penny Norsworthy; Liam Quinn; Jerome Whitfield; Jacqueline Linehan; Zane Jaunmuktane; Sebastian Brandner; Parmjit Jat; Akin Nihat; Tze How Mok; Parvin Ahmed; Steven Collins; Christiane Stehmann; Shannon Sarros; Gabor G Kovacs; Michael D Geschwind; Aili Golubjatnikov; Karl Frontzek; Herbert Budka; Adriano Aguzzi; Hata Karamujić-Čomić; Sven J van der Lee; Carla A Ibrahim-Verbaas; Cornelia M van Duijn; Beata Sikorska; Ewa Golanska; Pawel P Liberski; Miguel Calero; Olga Calero; Pascual Sanchez-Juan; Antonio Salas; Federico Martinón-Torres; Elodie Bouaziz-Amar; Stéphane Haïk; Jean-Louis Laplanche; Jean-Phillipe Brandel; Phillipe Amouyel; Jean-Charles Lambert; Piero Parchi; Anna Bartoletti-Stella; Sabina Capellari; Anna Poleggi; Anna Ladogana; Maurizio Pocchiari; Serena Aneli; Giuseppe Matullo; Richard Knight; Saima Zafar; Inga Zerr; Stephanie Booth; Michael B Coulthart; Gerard H Jansen; Katie Glisic; Janis Blevins; Pierluigi Gambetti; Jiri Safar; Brian Appleby; John Collinge; Simon Mead
Journal:  Lancet Neurol       Date:  2020-09-16       Impact factor: 44.182

Review 9.  CRISPR-based functional genomics for neurological disease.

Authors:  Martin Kampmann
Journal:  Nat Rev Neurol       Date:  2020-07-08       Impact factor: 42.937

Review 10.  Transcriptomic Insight Into the Polygenic Mechanisms Underlying Psychiatric Disorders.

Authors:  Leanna M Hernandez; Minsoo Kim; Gil D Hoftman; Jillian R Haney; Luis de la Torre-Ubieta; Bogdan Pasaniuc; Michael J Gandal
Journal:  Biol Psychiatry       Date:  2020-06-12       Impact factor: 13.382

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