Claudia Ruivenkamp
0000-0003-1450-4376
Publication & Citation Trends
Publications
195 total
A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series OA
Cited by 0
Semantic Scholar
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II OA
Cited by 0
Semantic Scholar
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family OA
Cited by 2
Semantic Scholar
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases PDF
Cited by 572
OpenAlex
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Cited by 0
Semantic Scholar
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three‐generation family at serious risk for aortic dissection OA
Cited by 26
Semantic Scholar
Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement
Cited by 0
Semantic Scholar
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cited by 423
OpenAlex
Research Topics
Genomic variations and chromosomal abnormalities
(74)
Genomics and Rare Diseases
(54)
Genetics and Neurodevelopmental Disorders
(47)
Chromosomal and Genetic Variations
(19)
Genetic Syndromes and Imprinting
(18)
Affiliations
Leiden University
Karolinska University Hospital
Children's Hospital of Los Angeles
Utrecht University
Leiden University Medical Center