Literature DB >> 27734888

A radical revision of human genetics.

Erika Check Hayden.   

Abstract

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Year:  2016        PMID: 27734888     DOI: 10.1038/538154a

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


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  3 in total

1.  Quantifying prion disease penetrance using large population control cohorts.

Authors:  Eric Vallabh Minikel; Sonia M Vallabh; Monkol Lek; Karol Estrada; Kaitlin E Samocha; J Fah Sathirapongsasuti; Cory Y McLean; Joyce Y Tung; Linda P C Yu; Pierluigi Gambetti; Janis Blevins; Shulin Zhang; Yvonne Cohen; Wei Chen; Masahito Yamada; Tsuyoshi Hamaguchi; Nobuo Sanjo; Hidehiro Mizusawa; Yosikazu Nakamura; Tetsuyuki Kitamoto; Steven J Collins; Alison Boyd; Robert G Will; Richard Knight; Claudia Ponto; Inga Zerr; Theo F J Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesús de Pedro-Cuesta; Stéphane Haïk; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anna Poleggi; Anna Ladogana; Anne H O'Donnell-Luria; Konrad J Karczewski; Jamie L Marshall; Michael Boehnke; Markku Laakso; Karen L Mohlke; Anna Kähler; Kimberly Chambert; Steven McCarroll; Patrick F Sullivan; Christina M Hultman; Shaun M Purcell; Pamela Sklar; Sven J van der Lee; Annemieke Rozemuller; Casper Jansen; Albert Hofman; Robert Kraaij; Jeroen G J van Rooij; M Arfan Ikram; André G Uitterlinden; Cornelia M van Duijn; Mark J Daly; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2016-01-20       Impact factor: 17.956

2.  Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Authors:  Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins
Journal:  Genet Med       Date:  2016-08-17       Impact factor: 8.822

3.  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

  3 in total
  5 in total

1.  A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.

Authors:  Wufang Fan; Bei Wang; Shanshan He; Tengfei Zhang; Chenxing Yin; Yunping Chen; Shuqi Zheng; Jixia Zhang; Lin Li
Journal:  PLoS One       Date:  2016-12-28       Impact factor: 3.240

2.  Evidence linking microRNA suppression of essential prosurvival genes with hippocampal cell death after traumatic brain injury.

Authors:  Deborah Kennedy Boone; Harris A Weisz; Min Bi; Michael T Falduto; Karen E O Torres; Hannah E Willey; Christina M Volsko; Anjali M Kumar; Maria-Adelaide Micci; Douglas S Dewitt; Donald S Prough; Helen L Hellmich
Journal:  Sci Rep       Date:  2017-07-27       Impact factor: 4.379

3.  EPIGEN-Brazil Initiative resources: a Latin American imputation panel and the Scientific Workflow.

Authors:  Wagner C S Magalhães; Nathalia M Araujo; Thiago P Leal; Gilderlanio S Araujo; Paula J S Viriato; Fernanda S Kehdy; Gustavo N Costa; Mauricio L Barreto; Bernardo L Horta; Maria Fernanda Lima-Costa; Alexandre C Pereira; Eduardo Tarazona-Santos; Maíra R Rodrigues
Journal:  Genome Res       Date:  2018-06-14       Impact factor: 9.438

4.  Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Authors:  Mathias Schwartz; Jean-Philippe Brandel; Marie Lise Babonneau; Christilla Boucher; Elodie Schaerer; Stephane Haik; Jean Louis Laplanche; Marcela Gargiulo; Alexandra Durr
Journal:  Front Genet       Date:  2019-09-20       Impact factor: 4.599

Review 5.  Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Authors:  Luís Cardoso; Mark Stevenson; Rajesh V Thakker
Journal:  Hum Mutat       Date:  2017-09-25       Impact factor: 4.878

  5 in total

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