Pavel Seeman

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman et al. · Nature Genetics · 2004 · 420 citations

Medicine, Molecular Biology, Neurology +14

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 262 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens et al. · The American Journal of Human Genetics · 2010 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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