HH Ropers
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Ubiquitin and proteasome pathways, Congenital heart defects research, Attention Deficit Hyperactivity Disorder, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree(2010)166 cited
- → High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease(2008)127 cited
- → Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome(2010)54 cited
- → Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)(2012)29 cited
- → Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome(2007)16 cited
- → Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe(2007)14 cited
- Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis.(1986)
- → Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris(2005)10 cited
- Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8(2004)
- H-Y antigen in human X-autosome translocations.(1983)