Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

(2012) Mohammed A Aldahmesh et al.   GENETICS IN MEDICINE

Molecular characterization of Joubert syndrome in Saudi Arabia

(2012) Anas M. Alazami et al.   HUMAN MUTATION

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

(2011) Helen J Blair et al.   BMC BIOLOGY

Clinical utility gene card for: Meckel syndrome

(2011) R Salonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

(2011) Katharina Hopp et al.   HUMAN MOLECULAR GENETICS

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

(2010) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic variation in Meckel syndrome

(2010) Mary J. Seller   CLINICAL GENETICS

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

(2010) R Shaheen et al.   CLINICAL GENETICS

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

(2009) Victor L. Ruiz-Perez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

(2009) Maria Valencia et al.   HUMAN MUTATION

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Regulation of ciliary polarity by the APC/C

(2009) A. Ganner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION