Rudolf A. Pfeiffer

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

Anita Rauch, Stefan Schellmoser, Cornelia Kraus et al. · American Journal of Medical Genetics · 2001 · 126 citations

Developmental Anomaly, Cause Wolf-hirschhorn Syndrome, Developmental Biology +12

A Novel 22q11.2 Microdeletion in DiGeorge Syndrome

Anita Rauch, Rudolf A. Pfeiffer, Georg Leipold et al. · The American Journal of Human Genetics · 1999 · 105 citations · Full text

Mendelian Disorder, Novel 22Q11.2, Genetic Disorder +7

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

Jutta Wirth, Thomas Wagner, Jobst Meyer et al. · Human Genetics · 1996 · 96 citations

Mendelian Disorder, Cytogenetics, Genetic Disorder +9

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

Peter Gustavsson, Emanuela Garelli, Natalia Draptchinskaia et al. · The American Journal of Human Genetics · 1998 · 77 citations · Full text

Biology, Genetic Analysis, Allelic Variant +8

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

Karin Michels-Rautenstrauss, Christian Y. Mardin, Wido M. Budde et al. · Human Genetics · 1998 · 76 citations

Ocular Disease, Ophthalmology, Genetic Disorder +8