Area of research
Genetics · Molecular Biology
Research interest
Research focused on Exome sequencing and Medical genetics, with related work in Genetics, Methylenetetrahydrofolate reductase, Genetic testing. Notable publications include 'Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes', 'ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing', and 'Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability'.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths
Rare variants in <i>ANO1</i> , encoding a calcium-activated chloride channel, predispose to moyamoya disease
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Novel truncating variant in <i>KMT2E</i> associated with cerebellar hypoplasia and velopharyngeal dysfunction
Missense <scp><i>MED12</i></scp> variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Ancestral polymorphisms shape the adaptive radiation of<i>Metrosideros</i>across the Hawaiian Islands
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing