Eugen Boltshauser

Loss‐of‐function mutations in the Na _v 1.7 gene underlie congenital indifference to pain in multiple human populations

Y. Paul Goldberg, Julie MacFarlane, ML MacDonald et al. · Clinical Genetics · 2007 · 448 citations

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Outcome of craniopharyngioma in children: long-term complications and quality of life

Andrea Poretti, Michael A. Grotzer, Karin Ribi et al. · Developmental Medicine & Child Neurology · 2004 · 262 citations

Surgical Oncology, Tumour Control, Surgery +19