Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification-Reference-Cited by-同舟云学术

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification

Published:2017-11-20 Issue:1 Volume:177 Page:68-74
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nicolas Gaël¹²^ORCID,Charbonnier Camille²,Campion Dominique²³,Veltman Joris A.¹⁴^ORCID

Affiliation:

1. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

2. Department of Genetics and CNR-MAJ, F 76000, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital; Normandy Center for Genomic and Personalized Medicine; Rouen France

3. Department of Research; Rouvray Psychiatric Hospital; Sotteville-lès-Rouen France

4. Institute of Genetic Medicine, International Centre for Life; Newcastle University; Newcastle upon Tyne United Kingdom

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)

Reference37 articles.

1. XPR1 mutations are a rare cause of primary familial brain calcification;Anheim;Journal of Neurology,2016

2. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ∼60,000 human exomes;Appadurai;Molecular Genetics and Metabolism,2015

3. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling;Arts;Journal of Cellular and Molecular Medicine,2015

4. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia;Baker;Neurogenetics,2014

5. Estimation of the incidence of a rare genetic disease through a two-tier mutation survey;Chakraborty;American Journal of Human Genetics,1993

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