Erwin Petek

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 380 citations · Full text

Life Sciences, Genetics, Neurology +13

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald et al. · Science · 2003 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Erwin Petek, Christian Windpassinger, John B. Vincent et al. · The American Journal of Human Genetics · 2001 · 186 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Anath C. Lionel, Andrea K. Vaags, Daisuke Sato et al. · Human Molecular Genetics · 2013 · 159 citations · Full text

Life Sciences, Genetics, Neuroscience +17