Literature DB >> 29237683

Pathogenicity of De Novo Rare Variants: Challenges and Opportunities.

Arya Mani1.   

Abstract

Entities:  

Keywords:  Editorials; arrhythmias, cardiac; exome; genetic variation; heart disease, congenital

Mesh：

Year:  2017        PMID： 29237683      PMCID： PMC5734671          DOI： 10.1161/CIRCGENETICS.117.002013

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  11 in total

Review 1.  Genetic insights into common pathways and complex relationships among immune-mediated diseases.

Authors:  Miles Parkes; Adrian Cortes; David A van Heel; Matthew A Brown
Journal:  Nat Rev Genet       Date:  2013-08-06       Impact factor: 53.242

2.  Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Authors:  Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

3.  De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Authors:  Jason Homsy; Samir Zaidi; Yufeng Shen; James S Ware; Kaitlin E Samocha; Konrad J Karczewski; Steven R DePalma; David McKean; Hiroko Wakimoto; Josh Gorham; Sheng Chih Jin; John Deanfield; Alessandro Giardini; George A Porter; Richard Kim; Kaya Bilguvar; Francesc López-Giráldez; Irina Tikhonova; Shrikant Mane; Angela Romano-Adesman; Hongjian Qi; Badri Vardarajan; Lijiang Ma; Mark Daly; Amy E Roberts; Mark W Russell; Seema Mital; Jane W Newburger; J William Gaynor; Roger E Breitbart; Ivan Iossifov; Michael Ronemus; Stephan J Sanders; Jonathan R Kaltman; Jonathan G Seidman; Martina Brueckner; Bruce D Gelb; Elizabeth Goldmuntz; Richard P Lifton; Christine E Seidman; Wendy K Chung
Journal:  Science       Date:  2015-12-04       Impact factor: 47.728

4.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

5.  TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels.

Authors:  C H Kimber; A S F Doney; E R Pearson; M I McCarthy; A T Hattersley; G P Leese; A D Morris; C N A Palmer
Journal:  Diabetologia       Date:  2007-04-11       Impact factor: 10.122

6.  Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Authors:  Manuel A Rivas; Mélissa Beaudoin; Agnes Gardet; Christine Stevens; Yashoda Sharma; Clarence K Zhang; Gabrielle Boucher; Stephan Ripke; David Ellinghaus; Noel Burtt; Tim Fennell; Andrew Kirby; Anna Latiano; Philippe Goyette; Todd Green; Jonas Halfvarson; Talin Haritunians; Joshua M Korn; Finny Kuruvilla; Caroline Lagacé; Benjamin Neale; Ken Sin Lo; Phil Schumm; Leif Törkvist; Marla C Dubinsky; Steven R Brant; Mark S Silverberg; Richard H Duerr; David Altshuler; Stacey Gabriel; Guillaume Lettre; Andre Franke; Mauro D'Amato; Dermot P B McGovern; Judy H Cho; John D Rioux; Ramnik J Xavier; Mark J Daly
Journal:  Nat Genet       Date:  2011-10-09       Impact factor: 38.330

7.  The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.

Authors:  Loukas Moutsianas; Vineeta Agarwala; Christian Fuchsberger; Jason Flannick; Manuel A Rivas; Kyle J Gaulton; Patrick K Albers; Gil McVean; Michael Boehnke; David Altshuler; Mark I McCarthy
Journal:  PLoS Genet       Date:  2015-04-23       Impact factor: 5.917

8.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

9.  Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Authors:  Jack A Kosmicki; Kaitlin E Samocha; Daniel P Howrigan; Stephan J Sanders; Kamil Slowikowski; Monkol Lek; Konrad J Karczewski; David J Cutler; Bernie Devlin; Kathryn Roeder; Joseph D Buxbaum; Benjamin M Neale; Daniel G MacArthur; Dennis P Wall; Elise B Robinson; Mark J Daly
Journal:  Nat Genet       Date:  2017-02-13       Impact factor: 38.330

10.  De novo mutations in histone-modifying genes in congenital heart disease.

Authors:  Samir Zaidi; Murim Choi; Hiroko Wakimoto; Lijiang Ma; Jianming Jiang; John D Overton; Angela Romano-Adesman; Robert D Bjornson; Roger E Breitbart; Kerry K Brown; Nicholas J Carriero; Yee Him Cheung; John Deanfield; Steve DePalma; Khalid A Fakhro; Joseph Glessner; Hakon Hakonarson; Michael J Italia; Jonathan R Kaltman; Juan Kaski; Richard Kim; Jennie K Kline; Teresa Lee; Jeremy Leipzig; Alexander Lopez; Shrikant M Mane; Laura E Mitchell; Jane W Newburger; Michael Parfenov; Itsik Pe'er; George Porter; Amy E Roberts; Ravi Sachidanandam; Stephan J Sanders; Howard S Seiden; Mathew W State; Sailakshmi Subramanian; Irina R Tikhonova; Wei Wang; Dorothy Warburton; Peter S White; Ismee A Williams; Hongyu Zhao; Jonathan G Seidman; Martina Brueckner; Wendy K Chung; Bruce D Gelb; Elizabeth Goldmuntz; Christine E Seidman; Richard P Lifton
Journal:  Nature       Date:  2013-05-12       Impact factor: 49.962
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  3 in total

1.  Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Authors:  Justyna Dąbrowska; Barbara Biedziak; Anna Szponar-Żurowska; Margareta Budner; Paweł P Jagodziński; Rafał Płoski; Adrianna Mostowska
Journal:  Mol Genet Genomics       Date:  2022-07-01       Impact factor: 2.980

2.  Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.

Authors:  Siti Waheeda Mohd-Zin; Amelia Cheng Wei Tan; Wahib M Atroosh; Meow-Keong Thong; Abu Bakar Azizi; Nicholas D E Greene; Noraishah Mydin Abdul-Aziz
Journal:  Genes (Basel)       Date:  2022-05-26       Impact factor: 4.141

Review 3.  Intellectual disability genomics: current state, pitfalls and future challenges.

Authors:  Nuno Maia; Maria João Nabais Sá; Manuel Melo-Pires; Arjan P M de Brouwer; Paula Jorge
Journal:  BMC Genomics       Date:  2021-12-20       Impact factor: 3.969
  3 in total

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