A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders-Reference-Cited by-同舟云学术

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Published:2019-11-25 Issue:2 Volume:41 Page:487-501
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ngo Kathie J.¹,Rexach Jessica E.¹,Lee Hane²³,Petty Lauren E.⁴,Perlman Susan¹,Valera Juliana M.¹,Deignan Joshua L.²,Mao Yuanming¹,Aker Mamdouh¹,Posey Jennifer E.⁵^ORCID,Jhangiani Shalini N.⁶,Coban‐Akdemir Zeynep H.⁵,Boerwinkle Eric⁶⁷,Muzny Donna⁶,Nelson Alexandra B.⁸,Hassin‐Baer Sharon⁹¹⁰,Poke Gemma¹¹,Neas Katherine¹¹,Geschwind Michael D.⁸,Grody Wayne W.²³¹²,Gibbs Richard⁵⁶,Geschwind Daniel H.¹³,Lupski James R.⁵⁶¹³¹⁴^ORCID,Below Jennifer E.⁴,Nelson Stanley F.¹²³¹²,Fogel Brent L.¹³¹⁵^ORCID

Affiliation:

1. Department of NeurologyProgram in NeurogeneticsDavid Geffen School of MedicineUniversity of California Los AngelesLos Angeles California

2. Department of Pathology and Laboratory MedicineDavid Geffen School of MedicineUniversity of California Los AngelesLos Angeles California

3. Department of Human GeneticsDavid Geffen School of MedicineUniversity of California Los AngelesLos Angeles California

4. Department of Medical GeneticsVanderbilt University Medical CenterNashville Tennessee

5. Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas

6. The Human Genome Sequencing CenterBaylor College of MedicineHouston Texas

7. Human Genetics CenterUniversity of Texas Health Science CenterHouston Texas

8. Department of NeurologyUCSF Memory and Aging CenterUniversity of CaliforniaSan Francisco California

9. Department of NeurologyChaim Sheba Medical CenterMovement Disorders InstituteTel‐Hashomer Israel

10. Sackler Faculty of MedicineTel‐Aviv UniversityTel‐Aviv Israel

11. Genetic Health Service NZCentral HubWellington HospitalWellington New Zealand

12. Department of PediatricsDavid Geffen School of MedicineUniversity of California Los AngelesLos Angeles California

13. Department of PediatricsBaylor College of MedicineHouston Texas

14. Baylor College of MedicineTexas Children's HospitalHouston Texas

15. Clinical Neurogenomics Research Center, David Geffen School of MedicineUniversity of California Los AngelesLos Angeles California

Funder

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23946

Reference81 articles.

1. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

2. The Autosomal Recessive Cerebellar Ataxias

3. Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias

4. Diagnosis and management of early- and late-onset cerebellar ataxia

5. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

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