Publication & Citation Trends
Publications
70 total
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance OA
Cited by 18
Semantic Scholar
CHD8-associated gastrointestinal complaints are caused by impaired vagal neural crest development and homeostatic imbalance OA
Cited by 1
Semantic Scholar
Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits PDF
Cited by 272
OpenAlex
A dominant vimentin variant causes a rare syndrome with premature aging OA
Cited by 27
Semantic Scholar
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity OA
Cited by 37
Semantic Scholar
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. OA
Cited by 32
Semantic Scholar
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Cited by 32
Semantic Scholar
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
Cited by 24
Semantic Scholar
Research Topics
Congenital heart defects research
(21)
Genetics and Neurodevelopmental Disorders
(16)
Genomic variations and chromosomal abnormalities
(14)
Autism Spectrum Disorder Research
(7)
Genomics and Rare Diseases
(6)
Affiliations
Délégation Paris 5
Brigham and Women's Hospital
Hôpital Necker-Enfants Malades
Centre National de la Recherche Scientifique
Harvard University