Area of research
Genetics · Plant Science
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, and Genomics and Chromatin Dynamics.
NMIHBA results from hypomorphic <i>PRUNE1</i> variants that lack short-chain exopolyphosphatase activity
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome