Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Immunodeficiency and Autoimmune Disorders, and Cancer Genomics and Diagnostics.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Use of Exome Sequencing for Infants in Intensive Care Units
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive