Area of research
Genetics · Surgery
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, and Esophageal and GI Pathology.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
<i>De novo</i> variants in <i>ATXN7L3</i> lead to developmental delay, hypotonia and distinctive facial features
<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( <i>DSP</i> ) Truncating Variant
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Missense <scp><i>MED12</i></scp> variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Maternal risk factors for the<scp>VACTERL</scp>association: A<scp>EUROCAT</scp>case–control study
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Haploinsufficiency of <i>CUX1</i> Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms