Literature DB >> 24681721

MutationTaster2: mutation prediction for the deep-sequencing age.

Jana Marie Schwarz1, David N Cooper2, Markus Schuelke1, Dominik Seelow1.   

Abstract

Mesh：

Substances：

Year:  2014        PMID： 24681721     DOI： 10.1038/nmeth.2890

Source DB:  PubMed          Journal:  Nat Methods        ISSN： 1548-7091            Impact factor:   28.547


× No keyword cloud information.
  8 in total

1.  MutationTaster evaluates disease-causing potential of sequence alterations.

Authors:  Jana Marie Schwarz; Christian Rödelsperger; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2010-08       Impact factor: 28.547

2.  Integrating common and rare genetic variation in diverse human populations.

Authors:  David M Altshuler; Richard A Gibbs; Leena Peltonen; David M Altshuler; Richard A Gibbs; Leena Peltonen; Emmanouil Dermitzakis; Stephen F Schaffner; Fuli Yu; Leena Peltonen; Emmanouil Dermitzakis; Penelope E Bonnen; David M Altshuler; Richard A Gibbs; Paul I W de Bakker; Panos Deloukas; Stacey B Gabriel; Rhian Gwilliam; Sarah Hunt; Michael Inouye; Xiaoming Jia; Aarno Palotie; Melissa Parkin; Pamela Whittaker; Fuli Yu; Kyle Chang; Alicia Hawes; Lora R Lewis; Yanru Ren; David Wheeler; Richard A Gibbs; Donna Marie Muzny; Chris Barnes; Katayoon Darvishi; Matthew Hurles; Joshua M Korn; Kati Kristiansson; Charles Lee; Steven A McCarrol; James Nemesh; Emmanouil Dermitzakis; Alon Keinan; Stephen B Montgomery; Samuela Pollack; Alkes L Price; Nicole Soranzo; Penelope E Bonnen; Richard A Gibbs; Claudia Gonzaga-Jauregui; Alon Keinan; Alkes L Price; Fuli Yu; Verneri Anttila; Wendy Brodeur; Mark J Daly; Stephen Leslie; Gil McVean; Loukas Moutsianas; Huy Nguyen; Stephen F Schaffner; Qingrun Zhang; Mohammed J R Ghori; Ralph McGinnis; William McLaren; Samuela Pollack; Alkes L Price; Stephen F Schaffner; Fumihiko Takeuchi; Sharon R Grossman; Ilya Shlyakhter; Elizabeth B Hostetter; Pardis C Sabeti; Clement A Adebamowo; Morris W Foster; Deborah R Gordon; Julio Licinio; Maria Cristina Manca; Patricia A Marshall; Ichiro Matsuda; Duncan Ngare; Vivian Ota Wang; Deepa Reddy; Charles N Rotimi; Charmaine D Royal; Richard R Sharp; Changqing Zeng; Lisa D Brooks; Jean E McEwen
Journal:  Nature       Date:  2010-09-02       Impact factor: 49.962

Review 3.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

4.  JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles.

Authors:  Elodie Portales-Casamar; Supat Thongjuea; Andrew T Kwon; David Arenillas; Xiaobei Zhao; Eivind Valen; Dimas Yusuf; Boris Lenhard; Wyeth W Wasserman; Albin Sandelin
Journal:  Nucleic Acids Res       Date:  2009-11-11       Impact factor: 16.971

5.  An integrated encyclopedia of DNA elements in the human genome.

Authors: 
Journal:  Nature       Date:  2012-09-06       Impact factor: 49.962

6.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

7.  GeneDistiller--distilling candidate genes from linkage intervals.

Authors:  Dominik Seelow; Jana Marie Schwarz; Markus Schuelke
Journal:  PLoS One       Date:  2008-12-05       Impact factor: 3.240

8.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971
  8 in total
  1335 in total

1.  Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Authors:  Xiuhua Bozarth; Jennifer N Dines; Qian Cong; Ghayda M Mirzaa; Kimberly Foss; J Lawrence Merritt; Jenny Thies; Heather C Mefford; Edward Novotny
Journal:  Am J Med Genet A       Date:  2018-12-04       Impact factor: 2.802

2.  Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

Authors:  Katherine D Holland; Thomas M Bouley; Paul S Horn
Journal:  Epilepsia       Date:  2017-05-18       Impact factor: 5.864

3.  A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Authors:  Wendy N Nembhard; Xinyu Tang; Jingyun Li; Stewart L MacLeod; Joseph Levy; Gerald B Schaefer; Charlotte A Hobbs
Journal:  Am J Med Genet A       Date:  2018-02-05       Impact factor: 2.802

4.  Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Authors:  Ning Liu; Kelly Schoch; Xi Luo; Loren D M Pena; Venkata Hemanjani Bhavana; Mary K Kukolich; Sarah Stringer; Zöe Powis; Kelly Radtke; Cameron Mroske; Kristen L Deak; Marie T McDonald; Allyn McConkie-Rosell; M Louise Markert; Peter G Kranz; Nicholas Stong; Anna C Need; David Bick; Michelle D Amaral; Elizabeth A Worthey; Shawn Levy; Michael F Wangler; Hugo J Bellen; Vandana Shashi; Shinya Yamamoto
Journal:  Hum Mol Genet       Date:  2018-07-15       Impact factor: 6.150

5.  Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.

Authors:  Jeffrey Staples; Evan K Maxwell; Nehal Gosalia; Claudia Gonzaga-Jauregui; Christopher Snyder; Alicia Hawes; John Penn; Ricardo Ulloa; Xiaodong Bai; Alexander E Lopez; Cristopher V Van Hout; Colm O'Dushlaine; Tanya M Teslovich; Shane E McCarthy; Suganthi Balasubramanian; H Lester Kirchner; Joseph B Leader; Michael F Murray; David H Ledbetter; Alan R Shuldiner; George D Yancoupolos; Frederick E Dewey; David J Carey; John D Overton; Aris Baras; Lukas Habegger; Jeffrey G Reid
Journal:  Am J Hum Genet       Date:  2018-05-03       Impact factor: 11.025

6.  Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients.

Authors:  Zhen Xiao; Zhi-Gang Liu; Xiao-Liang Ou Yang; Si-Min Yu; Jian-Rong Zeng; Chun-Ming Li
Journal:  Mol Syndromol       Date:  2021-05-04

7.  C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Authors:  Aishwarya Ravindran; Fernando C Fervenza; Richard J H Smith; An S De Vriese; Sanjeev Sethi
Journal:  Mayo Clin Proc       Date:  2018-08       Impact factor: 7.616

8.  Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Authors:  Kerstin Felgentreff; Yu Nee Lee; Francesco Frugoni; Likun Du; Mirjam van der Burg; Silvia Giliani; Ilhan Tezcan; Ismail Reisli; Ester Mejstrikova; Jean-Pierre de Villartay; Barry P Sleckman; John Manis; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2015-04-25       Impact factor: 10.793

9.  MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Authors:  Manuela Germeshausen; Phil Ancliff; Jaime Estrada; Markus Metzler; Eva Ponstingl; Horst Rütschle; Dirk Schwabe; Richard H Scott; Sule Unal; Angela Wawer; Bernward Zeller; Matthias Ballmaier
Journal:  Blood Adv       Date:  2018-03-27

10.  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:  Asbjørg Stray-Pedersen; Hanne Sørmo Sorte; Pubudu Samarakoon; Tomasz Gambin; Ivan K Chinn; Zeynep H Coban Akdemir; Hans Christian Erichsen; Lisa R Forbes; Shen Gu; Bo Yuan; Shalini N Jhangiani; Donna M Muzny; Olaug Kristin Rødningen; Ying Sheng; Sarah K Nicholas; Lenora M Noroski; Filiz O Seeborg; Carla M Davis; Debra L Canter; Emily M Mace; Timothy J Vece; Carl E Allen; Harshal A Abhyankar; Philip M Boone; Christine R Beck; Wojciech Wiszniewski; Børre Fevang; Pål Aukrust; Geir E Tjønnfjord; Tobias Gedde-Dahl; Henrik Hjorth-Hansen; Ingunn Dybedal; Ingvild Nordøy; Silje F Jørgensen; Tore G Abrahamsen; Torstein Øverland; Anne Grete Bechensteen; Vegard Skogen; Liv T N Osnes; Mari Ann Kulseth; Trine E Prescott; Cecilie F Rustad; Ketil R Heimdal; John W Belmont; Nicholas L Rider; Javier Chinen; Tram N Cao; Eric A Smith; Maria Soledad Caldirola; Liliana Bezrodnik; Saul Oswaldo Lugo Reyes; Francisco J Espinosa Rosales; Nina Denisse Guerrero-Cursaru; Luis Alberto Pedroza; Cecilia M Poli; Jose L Franco; Claudia M Trujillo Vargas; Juan Carlos Aldave Becerra; Nicola Wright; Thomas B Issekutz; Andrew C Issekutz; Jordan Abbott; Jason W Caldwell; Diana K Bayer; Alice Y Chan; Alessandro Aiuti; Caterina Cancrini; Eva Holmberg; Christina West; Magnus Burstedt; Ender Karaca; Gözde Yesil; Hasibe Artac; Yavuz Bayram; Mehmed Musa Atik; Mohammad K Eldomery; Mohammad S Ehlayel; Stephen Jolles; Berit Flatø; Alison A Bertuch; I Celine Hanson; Victor W Zhang; Lee-Jun Wong; Jianhong Hu; Magdalena Walkiewicz; Yaping Yang; Christine M Eng; Eric Boerwinkle; Richard A Gibbs; William T Shearer; Robert Lyle; Jordan S Orange; James R Lupski
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.