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 · 374 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Human Chromosome 7: DNA Sequence and Biology

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

Dna, Cytogenetics, Genetics +24

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 · 185 citations · Full text

Signal Transduction, Novel Gene, Genetic Disorder +4

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 · 156 citations · Full text

Mitochondrial Myopathy, Mechanobiology, Muscle Pathology +10

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 · 151 citations · Full text