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Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.American Journal of Human Genetics|January 25, 2005
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeHouda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, et al.American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.Nature Genetics|July 7, 2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongationChristel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, et al.Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.Pageof 10