Susanne Morlot

Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

J. Claiborne Stephens, David Reich, David Goldstein et al. · The American Journal of Human Genetics · 1998 · 523 citations · Full text

Expansion of the genotypic and phenotypic spectrum in patients with <i>KRAS</i> germline mutations

Martin Zenker, Katarina Lehmann, D. Hansmann et al. · Journal of Medical Genetics · 2006 · 201 citations · Full text

A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Katarina Lehmann, Petra Seemann, Timm O. Goecke et al. · The American Journal of Human Genetics · 2007 · 151 citations · Full text

Sclerostin, Developmental Biology, New Subtype +9

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Oliver Bartsch, Stefanie Schmidt, Marion Richter et al. · Human Genetics · 2005 · 115 citations

Dna Sequencing, Rubinstein–taybi Syndrome, Mendelian Disorder +10