Publication & Citation Trends
Publications
0 total
Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.
Cited by 0
Semantic Scholar
TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS
Cited by 1
Semantic Scholar
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability OA
Cited by 95
Semantic Scholar
Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization OA
Cited by 2
Semantic Scholar
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder OA
Cited by 38
Semantic Scholar
WHOLE EXOME TRIO SEQUENCING IDENTIFIES NOVEL VARIANTS FOR AUTISM SPECTRUM DISORDER
Cited by 1
Semantic Scholar
Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting. OA
Cited by 8
Semantic Scholar
Research Topics
Cardiomyopathy and Myosin Studies
(11)
Genomics and Rare Diseases
(10)
Muscle Physiology and Disorders
(9)
Genetics and Neurodevelopmental Disorders
(8)
Genomic variations and chromosomal abnormalities
(7)
Affiliations
Centre National de la Recherche Scientifique
Centre for Addiction and Mental Health
University of Arizona
Mental Health Research Institute
Inserm