Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Renal and related cancers, and Immunodeficiency and Autoimmune Disorders.
Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma
Somatic genetic rescue of a germline ribosome assembly defect
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis
Mutations in <i>LTBP3</i> cause acromicric dysplasia and geleophysic dysplasia
The human gene damage index as a gene-level approach to prioritizing exome variants
Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans