Literature DB >> 26351682

Can the impact of human genetic variations be predicted?

Yuval Itan1, Jean-Laurent Casanova2.   

Abstract

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Year:  2015        PMID： 26351682      PMCID： PMC4577181          DOI： 10.1073/pnas.1515057112

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  23 in total

1.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Authors:  Prateek Kumar; Steven Henikoff; Pauline C Ng
Journal:  Nat Protoc       Date:  2009-06-25       Impact factor: 13.491

Review 2.  Understanding the contribution of synonymous mutations to human disease.

Authors:  Zuben E Sauna; Chava Kimchi-Sarfaty
Journal:  Nat Rev Genet       Date:  2011-08-31       Impact factor: 53.242

3.  The human gene connectome as a map of short cuts for morbid allele discovery.

Authors:  Yuval Itan; Shen-Ying Zhang; Guillaume Vogt; Avinash Abhyankar; Melina Herman; Patrick Nitschke; Dror Fried; Lluis Quintana-Murci; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-18       Impact factor: 11.205

Review 4.  Sequencing studies in human genetics: design and interpretation.

Authors:  David B Goldstein; Andrew Allen; Jonathan Keebler; Elliott H Margulies; Steven Petrou; Slavé Petrovski; Shamil Sunyaev
Journal:  Nat Rev Genet       Date:  2013-06-11       Impact factor: 53.242

5.  Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Authors:  Alexandre Bolze; Nizar Mahlaoui; Minji Byun; Bridget Turner; Nikolaus Trede; Steven R Ellis; Avinash Abhyankar; Yuval Itan; Etienne Patin; Samuel Brebner; Paul Sackstein; Anne Puel; Capucine Picard; Laurent Abel; Lluis Quintana-Murci; Saul N Faust; Anthony P Williams; Richard Baretto; Michael Duddridge; Usha Kini; Andrew J Pollard; Catherine Gaud; Pierre Frange; Daniel Orbach; Jean-Francois Emile; Jean-Louis Stephan; Ricardo Sorensen; Alessandro Plebani; Lennart Hammarstrom; Mary Ellen Conley; Licia Selleri; Jean-Laurent Casanova
Journal:  Science       Date:  2013-04-11       Impact factor: 47.728

6.  A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

Authors:  Alexandre Bolze; Avinash Abhyankar; Audrey V Grant; Bhavi Patel; Ruchi Yadav; Minji Byun; Daniel Caillez; Jean-Francois Emile; Marçal Pastor-Anglada; Laurent Abel; Anne Puel; Rajgopal Govindarajan; Loic de Pontual; Jean-Laurent Casanova
Journal:  PLoS One       Date:  2012-01-04       Impact factor: 3.240

7.  Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Authors:  T D Andrews; B Whittle; M A Field; B Balakishnan; Y Zhang; Y Shao; V Cho; M Kirk; M Singh; Y Xia; J Hager; S Winslade; G Sjollema; B Beutler; A Enders; C C Goodnow
Journal:  Open Biol       Date:  2012-05       Impact factor: 6.411

8.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

9.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

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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  17 in total

1.  Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors.

Authors:  Sarah Abou Alaiwi; Amin H Nassar; Wanling Xie; Ziad Bakouny; Jacob E Berchuck; David A Braun; Sylvan C Baca; Pier Vitale Nuzzo; Ronan Flippot; Tarek H Mouhieddine; Liam F Spurr; Yvonne Y Li; Taiwen Li; Abdallah Flaifel; John A Steinharter; Claire A Margolis; Natalie I Vokes; Heng Du; Sachet A Shukla; Andrew D Cherniack; Guru Sonpavde; Robert I Haddad; Mark M Awad; Marios Giannakis; F Stephen Hodi; X Shirley Liu; Sabina Signoretti; Cigall Kadoch; Matthew L Freedman; David J Kwiatkowski; Eliezer M Van Allen; Toni K Choueiri
Journal:  Cancer Immunol Res       Date:  2020-04-22       Impact factor: 11.151

2.  A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Authors:  Carmen Oleaga-Quintas; Caroline Deswarte; Marcela Moncada-Vélez; Ayse Metin; Indumathi Krishna Rao; Saliha Kanık-Yüksek; Alejandro Nieto-Patlán; Antoine Guérin; Belgin Gülhan; Savita Murthy; Aslınur Özkaya-Parlakay; Laurent Abel; Rubén Martínez-Barricarte; Rebeca Pérez de Diego; Stéphanie Boisson-Dupuis; Xiao-Fei Kong; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Hum Mol Genet       Date:  2018-11-15       Impact factor: 6.150

3.  The human gene damage index as a gene-level approach to prioritizing exome variants.

Authors:  Yuval Itan; Lei Shang; Bertrand Boisson; Etienne Patin; Alexandre Bolze; Marcela Moncada-Vélez; Eric Scott; Michael J Ciancanelli; Fabien G Lafaille; Janet G Markle; Ruben Martinez-Barricarte; Sarah Jill de Jong; Xiao-Fei Kong; Patrick Nitschke; Aziz Belkadi; Jacinta Bustamante; Anne Puel; Stéphanie Boisson-Dupuis; Peter D Stenson; Joseph G Gleeson; David N Cooper; Lluis Quintana-Murci; Jean-Michel Claverie; Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-19       Impact factor: 11.205

4.  Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Authors:  Reiko Kagawa; Ryoji Fujiki; Miyuki Tsumura; Sonoko Sakata; Shiho Nishimura; Yuval Itan; Xiao-Fei Kong; Zenichiro Kato; Hidenori Ohnishi; Osamu Hirata; Satoshi Saito; Maiko Ikeda; Jamila El Baghdadi; Aziz Bousfiha; Kaori Fujiwara; Matias Oleastro; Judith Yancoski; Laura Perez; Silvia Danielian; Fatima Ailal; Hidetoshi Takada; Toshiro Hara; Anne Puel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Osamu Ohara; Satoshi Okada; Masao Kobayashi
Journal:  J Allergy Clin Immunol       Date:  2016-12-20       Impact factor: 10.793

5.  Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.

Authors:  A H Schiemann; K M Stowell
Journal:  Br J Anaesth       Date:  2016-05-04       Impact factor: 9.166

6.  MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.

Authors:  Nehal Gosalia; Aris N Economides; Frederick E Dewey; Suganthi Balasubramanian
Journal:  Nucleic Acids Res       Date:  2017-10-13       Impact factor: 16.971

7.  Re-evaluating pathogenicity of variants associated with the long QT syndrome.

Authors:  Jonathan R Kaltman; Frank Evans; Yi-Ping Fu
Journal:  J Cardiovasc Electrophysiol       Date:  2017-11-01

Review 8.  Myofibrillar myopathy in the genomic context.

Authors:  Jakub Piotr Fichna; Aleksandra Maruszak; Cezary Żekanowski
Journal:  J Appl Genet       Date:  2018-09-10       Impact factor: 3.240

Review 9.  Human genetics of infectious diseases: Unique insights into immunological redundancy.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Semin Immunol       Date:  2017-12-16       Impact factor: 11.130

Review 10.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793
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