Literature DB >> 25133783

Clinical exome sequencing: the new standard in genetic diagnosis.

Christopher M Gomez1, Soma Das2.   

Abstract

Mesh：

Year:  2014        PMID： 25133783     DOI： 10.1001/jamaneurol.2014.2015

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  8 in total

1.  A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

Authors:  Qin-Kang Lu; Na Zhao; Ya-Su Lv; Wei-Kun Gong; Hui-Yun Wang; Qi-Hu Tong; Xiao-Ming Lai; Rong-Rong Liu; Ming-Yan Fang; Jian-Guo Zhang; Zhen-Fang Du; Xian-Ning Zhang
Journal:  Int J Ophthalmol       Date:  2015-12-18       Impact factor: 1.779

2.  Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

Authors:  Mi-Ae Jang; Taeheon Lee; Junnam Lee; Eun-Hae Cho; Chang-Seok Ki
Journal:  Ann Lab Med       Date:  2015-04-01       Impact factor: 3.464

Review 3.  Clinical exome sequencing in neurologic disease.

Authors:  Brent L Fogel; Saty Satya-Murti; Bruce H Cohen
Journal:  Neurol Clin Pract       Date:  2016-04

Review 4.  Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Authors:  Brent L Fogel; Hane Lee; Samuel P Strom; Joshua L Deignan; Stanley F Nelson
Journal:  Ann N Y Acad Sci       Date:  2015-08-06       Impact factor: 5.691

5.  Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Authors:  Marie Coutelier; Monia B Hammer; Giovanni Stevanin; Marie-Lorraine Monin; Claire-Sophie Davoine; Fanny Mochel; Pierre Labauge; Claire Ewenczyk; Jinhui Ding; J Raphael Gibbs; Didier Hannequin; Judith Melki; Annick Toutain; Vincent Laugel; Sylvie Forlani; Perrine Charles; Emmanuel Broussolle; Stéphane Thobois; Alexandra Afenjar; Mathieu Anheim; Patrick Calvas; Giovanni Castelnovo; Thomas de Broucker; Marie Vidailhet; Antoine Moulignier; Robert T Ghnassia; Chantal Tallaksen; Cyril Mignot; Cyril Goizet; Isabelle Le Ber; Elisabeth Ollagnon-Roman; Jean Pouget; Alexis Brice; Andrew Singleton; Alexandra Durr
Journal:  JAMA Neurol       Date:  2018-05-01       Impact factor: 18.302

Review 6.  Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.

Authors:  Wylie Burke; Ellen Wright Clayton; Susan M Wolf; Susan A Berry; Barbara J Evans; James P Evans; Ralph Hall; Diane Korngiebel; Anne-Marie Laberge; Bonnie S LeRoy; Amy L McGuire
Journal:  Genet Med       Date:  2019-06-04       Impact factor: 8.822

Review 7.  The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.

Authors:  Shirley Yin-Yu Pang; Kay-Cheong Teo; Jacob Shujui Hsu; Richard Shek-Kwan Chang; Miaoxin Li; Pak-Chung Sham; Shu-Leong Ho
Journal:  Transl Neurodegener       Date:  2017-10-06       Impact factor: 8.014

8.  Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.

Authors:  Leslie A Lyons; Erica K Creighton; Hasan Alhaddad; Holly C Beale; Robert A Grahn; HyungChul Rah; David J Maggs; Christopher R Helps; Barbara Gandolfi
Journal:  BMC Genomics       Date:  2016-03-31       Impact factor: 3.969
  8 in total

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