Bernd Rautenstrauß

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel et al. · The American Journal of Human Genetics · 2003 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 173 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +12

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Feng Zhang, Pavel Seeman, Pengfei Liu et al. · The American Journal of Human Genetics · 2010 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin et al. · The American Journal of Human Genetics · 2009 · 145 citations · Full text

Health Professions, Genetics, Ophthalmology +9

Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin et al. · Brain · 2015 · 86 citations · Full text

Life Sciences, Genetics, Neurology +16