Wout H. Deelen
Erasmus MC(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting
Most-Cited Works
- → A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease(2002)96 cited
- → DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR‐1 gene(1994)56 cited
- → Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.(1992)50 cited
- → Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes(1994)47 cited
- → Founder effect in a Belgian-Dutch fragile X population(1993)43 cited
- → Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy(1998)41 cited
- → Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families(1994)38 cited
- → Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183)(1995)37 cited
- → Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.(1997)33 cited
- → Univerricht‐Lundborg Disease: Underdiagnosed in the Netherlands(2004)32 cited