Area of research
Genetics · Oncology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Chemokine receptors and signaling, and Congenital heart defects research.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
DLG4-related synaptopathy: a new rare brain disorder
Application of full-genome analysis to diagnose rare monogenic disorders
The role of exome sequencing in newborn screening for inborn errors of metabolism
Automated syndrome diagnosis by three-dimensional facial imaging
Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>
Phenotype characterisation of<i>TBX4</i>mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Genetics workforce: distribution of genetics services and challenges to health care in California
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
The genetic landscape of anaplastic pleomorphic xanthoastrocytoma
Newborn Sequencing in Genomic Medicine and Public Health
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation
Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)