Concepedia
Statistics
Publications
5
Citations
455
H-Index
Active since
2008
Affiliations
National Institutes of Health(Current)
Inserm
National Institute on Aging
National Institute of Neurological Disorders and Stroke
Sorbonne Université
Andrew Singleton is an author at National Institutes of Health specializing in genetics, medical genetics, and life sciences.
Publications per year
2008–2018
Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance
Fanny Mochel, Melanie A. Knight, Wing‐Hang Tong et al. · The American Journal of Human Genetics · 2008 · 212 citations · Full text
Life Sciences, Genetics, Molecular Biology +6
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia Hammer, Giovanni Stévanin et al. · JAMA Neurology · 2018 · 123 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson et al. · Archives of Neurology · 2011 · 71 citations
Life Sciences, Genetics, Molecular Genetics +11
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
Katherine G. Meilleur, Mamadou Traoré, Modibo Sangaré et al. · Neurogenetics · 2009 · 25 citations · Full text
Life Sciences, Genetics, Neurology +13
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen et al. · Neurology Genetics · 2018 · 24 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
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