Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone et al. · The American Journal of Human Genetics · 2001 · 351 citations · Full text

Dentistry, Craniofacial Biology, Human Genetics +4

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 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

The human DDX and DHX gene families of putative RNA helicases

Mohamed Abdelhaleem, Lois J. Maltais, Hester Wain · Genomics · 2003 · 164 citations

Life Sciences, Genetics, Molecular Biology +7

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Ian Carr, Kimberley Flintoff, Graham R. Taylor et al. · Human Mutation · 2006 · 151 citations

Life Sciences, Genetics, Molecular Genetics +17

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez et al. · Nature Genetics · 2014 · 147 citations · Full text

Dentistry, Craniofacial Biology, Molecular Genetics +10