Area of research
Genetics · Neurology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Cleft Lip and Palate Research, Craniofacial Disorders and Treatments, and Genetics and Neurodevelopmental Disorders.
Personal journeys to and in human genetics and dysmorphology
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Maternal Exposure to Criteria Air Pollutants and Congenital Heart Defects in Offspring: Results from the National Birth Defects Prevention Study
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network
Genotypic and phenotypic analysis of 396 individuals with mutations in <i>Sonic Hedgehog</i>
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