Publication & Citation Trends
Most Cited Works
Publications
44 total
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Cited by 1
Semantic Scholar
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Cited by 5
Semantic Scholar
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases
Cited by 2
Semantic Scholar
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study OA
Cited by 6
Semantic Scholar
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects PDF
Cited by 98
OpenAlex
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology PDF
Cited by 34
OpenAlex
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care PDF
Cited by 59
OpenAlex
Research Topics
Genomics and Rare Diseases
(11)
Prenatal Screening and Diagnostics
(7)
Genomic variations and chromosomal abnormalities
(7)
Genetics and Neurodevelopmental Disorders
(7)
Congenital Heart Disease Studies
(5)
Frequent Co-Authors
Affiliations
Leiden University
Leiden University Medical Center
TiGenix (Spain)
John Radcliffe Hospital
University Medical Center Utrecht