Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetics, Biology, Medicine, Phenotype, Internal medicine, and Endocrinology.
Spleen function is reduced in individuals with <i>NR5A1</i> variants with or without a difference of sex development: a cross-sectional study
High‐yield identification of pathogenic <i>NF1</i> variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice