Literature DB >> 25366112

Genetics: Clinical exome sequencing in neurology practice.

Satoko Miyatake1, Naomichi Matsumoto1.   

Abstract

Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders.These studies demonstrate the strengths, limitations and potential of CES in neurology practice.

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Year:  2014        PMID： 25366112     DOI： 10.1038/nrneurol.2014.213

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  10 in total

Review 1.  What can exome sequencing do for you?

Authors:  Jacek Majewski; Jeremy Schwartzentruber; Emilie Lalonde; Alexandre Montpetit; Nada Jabado
Journal:  J Med Genet       Date:  2011-07-05       Impact factor: 6.318

Review 2.  Diagnostic clinical genome and exome sequencing.

Authors:  Leslie G Biesecker; Robert C Green
Journal:  N Engl J Med       Date:  2014-06-19       Impact factor: 91.245

3.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

Review 4.  The next-generation sequencing revolution and its impact on genomics.

Authors:  Daniel C Koboldt; Karyn Meltz Steinberg; David E Larson; Richard K Wilson; Elaine R Mardis
Journal:  Cell       Date:  2013-09-26       Impact factor: 41.582

5.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

6.  Clinical whole exome sequencing in child neurology practice.

Authors:  Siddharth Srivastava; Julie S Cohen; Hilary Vernon; Kristin Barañano; Rebecca McClellan; Leila Jamal; SakkuBai Naidu; Ali Fatemi
Journal:  Ann Neurol       Date:  2014-08-30       Impact factor: 10.422

7.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

8.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245

9.  Database resources of the National Center for Biotechnology Information.

Authors: 
Journal:  Nucleic Acids Res       Date:  2013-11-19       Impact factor: 16.971

10.  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
  10 in total
  7 in total

Review 1.  Clinical exome sequencing in neurologic disease.

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

2.  Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine.

Authors:  Colin Me Halverson; Kristin E Clift; Jennifer B McCormick
Journal:  J Community Genet       Date:  2016-02-09

3.  The need to develop a patient-centered precision medicine model for adults with chronic disability.

Authors:  Susan M Wolf; Bharat Thyagarajan; Brent L Fogel
Journal:  Expert Rev Mol Diagn       Date:  2017-04-03       Impact factor: 5.225

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.  Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Authors:  Alekhya Narravula; Kathryn B Garber; S Hussain Askree; Madhuri Hegde; Patricia L Hall
Journal:  Genet Med       Date:  2016-06-16       Impact factor: 8.822

6.  De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Authors:  Ricardo Parolin Schnekenberg; Emma M Perkins; Jack W Miller; Wayne I L Davies; Maria Cristina D'Adamo; Mauro Pessia; Katherine A Fawcett; David Sims; Elodie Gillard; Karl Hudspith; Paul Skehel; Jonathan Williams; Mary O'Regan; Sandeep Jayawant; Rosalind Jefferson; Sarah Hughes; Andrea Lustenberger; Jiannis Ragoussis; Mandy Jackson; Stephen J Tucker; Andrea H Németh
Journal:  Brain       Date:  2015-05-16       Impact factor: 13.501

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
  7 in total

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