Lisa Ofner

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub et al. · The American Journal of Human Genetics · 2008 · 159 citations · Full text

Medicine, Genetics, Neurology +12

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Thomas Schwarzbraun, John B. Vincent, Axel Schumacher et al. · Genomics · 2004 · 26 citations

Life Sciences, Genetics, Molecular Genetics +10

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner et al. · European Journal of Medical Genetics · 2005 · 17 citations

Life Sciences, Genetics, Molecular Genetics +16

A new 3p interstitial deletion including the entire <i>MITF</i> gene causes a variation of Tietz/Waardenburg type IIA syndromes

Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen‐Kaesbach et al. · American Journal of Medical Genetics Part A · 2007 · 16 citations

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Lisa Ofner, Jochen Raedle, Christian Windpassinger et al. · Journal of Human Genetics · 2005 · 12 citations

Life Sciences, Genetics, Molecular Genetics +5