Literature DB >> 27629930

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.

Orli G Bahcall1.   

Abstract

Mesh：

Year:  2016        PMID： 27629930     DOI： 10.1038/nrg.2016.121

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  4 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.  Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Authors:  Douglas M Ruderfer; Tymor Hamamsy; Monkol Lek; Konrad J Karczewski; David Kavanagh; Kaitlin E Samocha; Mark J Daly; Daniel G MacArthur; Menachem Fromer; Shaun M Purcell
Journal:  Nat Genet       Date:  2016-08-17       Impact factor: 38.330

3.  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

4.  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
  4 in total
  14 in total

1.  A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family.

Authors:  Chao Zhang; Jiaojiao Liu; Furhan Iqbal; Yan Lu; Saima Mustafa; Firdous Bukhari; Haiyi Lou; Ruiqing Fu; Zhendong Wu; Xiong Yang; Ihtisham Bukhari; Muhammad Aslam; Shuhua Xu
Journal:  Heredity (Edinb)       Date:  2017-11-10       Impact factor: 3.821

2.  Variation in the Insulin-Like Growth Factor 1 Gene in Primates.

Authors:  Peter Rotwein
Journal:  Endocrinology       Date:  2017-04-01       Impact factor: 4.736

3.  Variation in Akt protein kinases in human populations.

Authors:  Peter Rotwein
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2017-09-20       Impact factor: 3.619

4.  Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.

Authors:  Peter Rotwein
Journal:  J Biol Chem       Date:  2017-04-07       Impact factor: 5.157

5.  VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Authors:  Heiko Müller; Raul Jimenez-Heredia; Ana Krolo; Tatjana Hirschmugl; Jasmin Dmytrus; Kaan Boztug; Christoph Bock
Journal:  Nucleic Acids Res       Date:  2017-07-03       Impact factor: 16.971

6.  Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Authors:  Dezhong Chen; Na Zhao; Jing Wang; Zhuoyu Li; Changxin Wu; Jie Fu; Han Xiao
Journal:  Hum Genome Var       Date:  2017-06-29

Review 7.  The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.

Authors:  Peter Rotwein
Journal:  Endocrinology       Date:  2017-07-01       Impact factor: 4.736

8.  A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population.

Authors:  Taku Miyagawa; Akiko Hida; Mihoko Shimada; Chihiro Uehara; Yuri Nishino; Hiroshi Kadotani; Makoto Uchiyama; Takashi Ebisawa; Yuichi Inoue; Yuichi Kamei; Katsushi Tokunaga; Kazuo Mishima; Makoto Honda
Journal:  J Hum Genet       Date:  2019-09-17       Impact factor: 3.172

Review 9.  Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.

Authors:  Ali M Tabish; Valerio Azzimato; Aris Alexiadis; Byambajav Buyandelger; Ralph Knöll
Journal:  Biophys Rev       Date:  2017-05-05

10.  ZMAT2 in Humans and Other Primates: A Highly Conserved and Understudied Gene.

Authors:  Kabita Baral; Peter Rotwein
Journal:  Evol Bioinform Online       Date:  2020-09-02       Impact factor: 1.625
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