Maureen Holvoet
Center for Human Genetics(US)KU Leuven(BE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Prenatal Screening and Diagnostics
Most-Cited Works
- → Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome(2012)130 cited
- → Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern(2016)126 cited
- → Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator(2016)87 cited
- → Cri du chat syndrome: Changing phenotype in older patients(2000)70 cited
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited
- → A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8(1997)52 cited
- → Cryptic translocation t(5;18) in familial mental retardation(2000)47 cited
- → Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant(2000)42 cited
- Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.(2004)
- → Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.(1997)38 cited