Roel Hordijk
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting, Genomics and Rare Diseases
Most-Cited Works
- → Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals(2009)292 cited
- → Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)(2007)178 cited
- → Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances(2009)167 cited
- → Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)(2005)98 cited
- → Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience(1998)94 cited
- → Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy(1998)80 cited
- → Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis(2011)80 cited
- → Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype(1999)71 cited
- → Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics(2011)71 cited
- → A specific mutation in TBL1XR1 causes Pierpont syndrome(2016)68 cited