Manfred Stuhrmann

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil H. Lee, Verneri Anttila, Hyejung Won et al. · Cell · 2019 · 1.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 421 citations · Full text

Medicine, Clinical Sciences, Molecular Medicine +11

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 242 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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