Klaus Dieterich

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Klaus Dieterich, Ricardo Soto‐Rifo, A.K. Faure et al. · Nature Genetics · 2007 · 274 citations

Spermatogenesis, Infertility, Andrology +12

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 245 citations · Full text

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein et al. · Journal of Medical Genetics · 2014 · 120 citations · Full text

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus et al. · Human Molecular Genetics · 2013 · 109 citations · Full text

Pns Myelination, Developmental Biology, Autoimmune Disease +14