Literature DB >> 21126992

Another locus, a new method.

Andrew B Singleton1, J Raphael Gibbs.   

Abstract

Mesh:

Year:  2010        PMID: 21126992      PMCID: PMC2995888          DOI: 10.1093/brain/awq331

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  8 in total

1.  Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Authors:  Cheryl Shoubridge; Patrick S Tarpey; Fatima Abidi; Sarah L Ramsden; Sinitdhorn Rujirabanjerd; Jessica A Murphy; Jackie Boyle; Marie Shaw; Alison Gardner; Anne Proos; Helen Puusepp; F Lucy Raymond; Charles E Schwartz; Roger E Stevenson; Gill Turner; Michael Field; Randall S Walikonis; Robert J Harvey; Anna Hackett; P Andrew Futreal; Michael R Stratton; Jozef Gécz
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

2.  TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Authors:  Jun Ling Wang; Xu Yang; Kun Xia; Zheng Mao Hu; Ling Weng; Xin Jin; Hong Jiang; Peng Zhang; Lu Shen; Ji Feng Guo; Nan Li; Ying Rui Li; Li Fang Lei; Jie Zhou; Juan Du; Ya Fang Zhou; Qian Pan; Jian Wang; Jun Wang; Rui Qiang Li; Bei Sha Tang
Journal:  Brain       Date:  2010-11-23       Impact factor: 13.501

3.  Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Authors:  Tom Walsh; Hashem Shahin; Tal Elkan-Miller; Ming K Lee; Anne M Thornton; Wendy Roeb; Amal Abu Rayyan; Suheir Loulus; Karen B Avraham; Mary-Claire King; Moien Kanaan
Journal:  Am J Hum Genet       Date:  2010-06-17       Impact factor: 11.025

4.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Authors:  Sarah B Ng; Abigail W Bigham; Kati J Buckingham; Mark C Hannibal; Margaret J McMillin; Heidi I Gildersleeve; Anita E Beck; Holly K Tabor; Gregory M Cooper; Heather C Mefford; Choli Lee; Emily H Turner; Joshua D Smith; Mark J Rieder; Koh-Ichiro Yoshiura; Naomichi Matsumoto; Tohru Ohta; Norio Niikawa; Deborah A Nickerson; Michael J Bamshad; Jay Shendure
Journal:  Nat Genet       Date:  2010-08-15       Impact factor: 38.330

5.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

6.  Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Authors:  Kaya Bilgüvar; Ali Kemal Oztürk; Angeliki Louvi; Kenneth Y Kwan; Murim Choi; Burak Tatli; Dilek Yalnizoğlu; Beyhan Tüysüz; Ahmet Okay Cağlayan; Sarenur Gökben; Hande Kaymakçalan; Tanyeri Barak; Mehmet Bakircioğlu; Katsuhito Yasuno; Winson Ho; Stephan Sanders; Ying Zhu; Sanem Yilmaz; Alp Dinçer; Michele H Johnson; Richard A Bronen; Naci Koçer; Hüseyin Per; Shrikant Mane; Mehmet Necmettin Pamir; Cengiz Yalçinkaya; Sefer Kumandaş; Meral Topçu; Meral Ozmen; Nenad Sestan; Richard P Lifton; Matthew W State; Murat Günel
Journal:  Nature       Date:  2010-08-22       Impact factor: 49.962

7.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

8.  Exome sequencing of a multigenerational human pedigree.

Authors:  Dale J Hedges; Dale Hedges; Dan Burges; Eric Powell; Cherylyn Almonte; Jia Huang; Stuart Young; Benjamin Boese; Mike Schmidt; Margaret A Pericak-Vance; Eden Martin; Xinmin Zhang; Timothy T Harkins; Stephan Züchner
Journal:  PLoS One       Date:  2009-12-14       Impact factor: 3.240

  8 in total
  2 in total

1.  Cerebellar ataxias: news on genetics and the excitability of affected neurons.

Authors:  Michael Strupp
Journal:  J Neurol       Date:  2011-03       Impact factor: 4.849

2.  An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Authors:  Tobias Eisenberger; Christian Decker; Milan Hiersche; Ruben C Hamann; Eva Decker; Steffen Neuber; Valeska Frank; Hanno J Bolz; Henry Fehrenbach; Lars Pape; Burkhard Toenshoff; Christoph Mache; Kay Latta; Carsten Bergmann
Journal:  PLoS One       Date:  2015-02-03       Impact factor: 3.240

  2 in total

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