Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Genomics and Rare Diseases, Connective tissue disorders research, Acute Lymphoblastic Leukemia research, and Genomic variations and chromosomal abnormalities.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes