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Hilger H. Ropers

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
1997 · Nandita A. Quaderi, Susann Schweiger, et al. · Nature Genetics · 364
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
2000 · Thierry Bienvenu, Vincent des Portes, et al. · American Journal of Medical Genetics · 139
Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q
1989 · Dominique Schonk, Marga Coerwinkel-Driessen, et al. · Genomics · 72
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
2017 · Ekaterina L. Ivanova, Frédéric Tran Mau-Them, et al. · The American Journal of Human Genetics · 52
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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
2009 · Hao Hu, Klaus Wrogemann, et al. · The HUGO Journal · 52
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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
2009 · Hao Hu, Klaus Wrogemann, et al. · The HUGO Journal · 49
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Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia
2011 · Tod Fullston, Bronte Gabb, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 20
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
2023 · Florence Petit, Mauro Longoni, et al. · The American Journal of Human Genetics · 11
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A Novel MGST2 Non-Synonymous Mutation in a Chinese Pedigree with Psoriasis Vulgaris
2006 · Kai-Lin Yan, Xue-Jun Zhang, et al. · Journal of Investigative Dermatology · 11
Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS
2003 · Johannes Prudlo, Burkhard Alber, et al. · Annals of Neurology · 5
P34: Analysing DNA copy number changes in lung carcinomas and adjacent bronchial epithelium by means of high-resolution array CGH
2005 · Artur Muradyan, Helmut Popper, et al. · European Journal of Medical Genetics
Works count: 12
Citation count: 775
H-index: 9
I10-index: 9
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