Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hereditary Neurological Disorders, and Genetics and Neurodevelopmental Disorders.
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Familial medullary thyroid carcinoma secondary to an
<i>SLC30A9</i>
intragenic deletion and translation reinitiation
Monoallelic expression can govern penetrance of inborn errors of immunity
Monoallelic expression can govern penetrance of inborn errors of immunity.
GREGoR: accelerating genomics for rare diseases.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Expanding the Clinical and Molecular Spectrum of
<i>TUBB2B</i>
Through Distinct Variants Identified Across Multiple Families
Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion
2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility.
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Pathogenic
<i>DVL</i>
frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics
Author response: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE
<i>PCBP1</i>
CAUSE A NEURODEVELOPMENTAL DISORDER
Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression