Patrick Thierry

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

Christian Denier, Anne Ducros, Katayoun Vahedi et al. · Neurology · 1999 · 208 citations

Life Sciences, Genetics, Neurology +17

Twenty-six novelEFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Ilse Wieland, William Reardon, Sibylle Jakubiczka et al. · Human Mutation · 2005 · 64 citations

Life Sciences, Genetics, Molecular Genetics +17

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

Delphine Feldmann, Cédric Le Maréchal, Laurence Jonard et al. · European Journal of Medical Genetics · 2008 · 55 citations

Life Sciences, Genetics, Molecular Genetics +14

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

Ilse Wieland, Román Makarov, William Reardon et al. · European Journal of Human Genetics · 2007 · 32 citations

Dentistry, Genetics, Molecular Genetics +16