W. Schempp

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Thomas Wagner, Jutta Wirth, Jobst Meyer et al. · Cell · 1994 · 1.6K citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades

Pille Hallast, Chiara Batini, Daniel Zadik et al. · Molecular Biology and Evolution · 2014 · 208 citations · Full text

Comparative Genomics, Genetics, Genomics +26

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Niels Tommerup, W. Schempp, Peter Meinecke et al. · Nature Genetics · 1993 · 193 citations

Developmental Biology, Mendelian Disorder, Cytogenetics +8

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Franz P.W. Radner, Slaheddine Marrakchi, Peter Kirchmeier et al. · PLoS Genetics · 2013 · 154 citations · Full text

Developmental Anomaly, Mendelian Disorder, Splice Site Mutation +11

Identification of Two Novel Proteins That Interact with Germ-Cell-Specific RNA-Binding Proteins DAZ and DAZL1

Shanli Tsui, Tiane Dai, Susanne Roettger et al. · Genomics · 2000 · 141 citations

Functional Genomics, Natural Sciences, Rna Structure Prediction +8