Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

(2013) Michael H Farkas et al.   BMC GENOMICS

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

(2013) Theodore G. Drivas et al.   JOURNAL OF CLINICAL INVESTIGATION

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

(2013) Beatriz Puisac et al.   MOLECULAR GENETICS AND METABOLISM

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

Genotype–phenotype correlation inCC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

(2012) Ruxandra Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

(2010) Wojciech Wiszniewski et al.   HUMAN GENETICS

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

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

(2010) J. F. Papon et al.   JOURNAL OF MEDICAL GENETICS

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Dual and opposing roles of primary cilia in medulloblastoma development

(2009) Young-Goo Han et al.   NATURE MEDICINE

Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis

(2009) Sunny Y Wong et al.   NATURE MEDICINE

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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