Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Mitochondrial Function and Pathology.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Clinical application of next-generation sequencing to the practice of neurology
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Genetics of Disorders of Sex Development
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of <i>DICER1</i> cause GLOW syndrome
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing