Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies-Reference-Cited by-同舟云学术

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Published:2018-07-25 Issue:9 Volume:39 Page:1284-1298
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Karakaya Mert¹^ORCID,Storbeck Markus¹,Strathmann Eike A.¹,Delle Vedove Andrea¹,Hölker Irmgard¹,Altmueller Janine¹²,Naghiyeva Leyla¹,Schmitz-Steinkrüger Lea¹,Vezyroglou Katharina¹,Motameny Susanne²,Alawbathani Salem²,Thiele Holger²,Polat Ayse Ipek³,Okur Derya³,Boostani Reza⁴,Karimiani Ehsan Ghayoor⁵⁶,Wunderlich Gilbert⁷,Ardicli Didem⁸,Topaloglu Haluk⁸,Kirschner Janbernd⁹,Schrank Bertold¹⁰,Maroofian Reza¹¹,Magnusson Olafur¹²,Yis Uluc³,Nürnberg Peter²,Heller Raoul¹,Wirth Brunhilde¹^ORCID

Affiliation:

1. Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany

2. Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany

3. Dokuz Eylül University; Department of Pediatric Neurology; Izmir Turkey

4. Mashhad University of Medical Sciences; Department of Neurology; Mashhad Iran

5. Next Generation Genetic Polyclinic; Mashhad Iran

6. Razavi Cancer Research Center; Razavi Hospital; Imam Reza International University; Mashhad Iran

7. University Hospital Cologne; Department of Neurology; Cologne Germany

8. Hacettepe University; Department of Pediatric Neurology; Ankara Turkey

9. Department of Neuropediatrics and Muscle Disorders; Faculty of Medicine; Medical Center; University of Freiburg; Freiburg Germany

10. DKD HELIOS Kliniken; Department of Neurology; Wiesbaden Germany

11. Genetics and Molecular Cell Sciences Research Centre; St George's University of London; London UK

12. deCODE Genetics/Amgen, Inc; Reykjavik Iceland

Funder

FP7 Health

NeurOmics

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23560/fullpdf

Reference60 articles.

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2. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield;Ankala;Annals in Neurology,2015

3. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability;Antoniadi;BMC Medical Genetics,2015

4. Mutations in SACS cause atypical and late-onset forms of ARSACS;Baets;Neurology,2010

5. Genetic heterogeneity of motor neuropathies;Bansagi;Neurology,2017

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