Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomics and Chromatin Dynamics, Genetics and Neurodevelopmental Disorders, and Hearing, Cochlea, Tinnitus, Genetics.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases