Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Congenital Ear and Nasal Anomalies, Tracheal and airway disorders, Congenital heart defects research, and Ear Surgery and Otitis Media.
A clinical and genotype-phenotype analysis of MACF1 variants
Practical considerations for reinterpretation of individual genetic variants
A road map for the treatment of pediatric diffuse midline glioma
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Mutation update for the <i>SATB2</i> gene
Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
<i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15<scp>q</scp>11.2, Specifically Breakpoints 1 to 2
Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Common genetic variants, acting additively, are a major source of risk for autism