Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy-Reference-Cited by-同舟云学术

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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Published:2017-04-26 Issue:5 Volume:4 Page:318-325
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Walsh Maie¹²,Bell Katrina M.¹,Chong Belinda¹,Creed Emma²³,Brett Gemma R.¹³,Pope Kate¹,Thorne Natalie P.³¹⁴,Sadedin Simon¹,Georgeson Peter⁴,Phelan Dean G.¹,Day Timothy²,Taylor Jessica A.²,Sexton Adrienne²,Lockhart Paul J.¹⁵⁶,Kiers Lynette²,Fahey Michael²,Macciocca Ivan¹³,Gaff Clara L.³⁴,Oshlack Alicia¹⁴,Yiu Eppie M.⁵⁶⁷,James Paul A.²⁴,Stark Zornitza¹,Ryan Monique M.¹³⁶⁷,

Affiliation:

1. Murdoch Childrens Research Institute; Melbourne Australia

2. Royal Melbourne Hospital; Melbourne Australia

3. Melbourne Genomics Health Alliance; Melbourne Australia

4. University of Melbourne; Melbourne Australia

5. Bruce Lefroy Centre; Murdoch Childrens Research Institute; Parkville Australia

6. Department of Paediatrics; The University of Melbourne; Melbourne Australia

7. Royal Children's Hospital; Melbourne Australia

Funder

Melbourne Genomics Health Alliance

State Government of Victoria

Bioplatforms Australia

NCRIS program

NHMRC Early Career Fellowship

NHMRC Australia Career Development Fellowship

Australian Government NHMRC IRIISS

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Reference31 articles.

1. Clinical implications of genetic advances in Charcot-Marie-Tooth disease;Rossor;Nat Rev Neurol,2013

2. Charcot-Marie-Tooth disease;Reilly;J Peripher Nerv Syst,2011

3. Charcot-Marie-Tooth disease subtypes and genetic testing strategies;Saporta;Ann Neurol,2011

4. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

5. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis;Fridman;J Neurol Neurosurg Psychiatry,2015

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4. Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies;European Journal of Human Genetics;2023-02-13

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