Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

[1]  Jason J. Corneveaux,et al.  A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear , 2016, Hearing Research.

[2]  G. Superti-Furga,et al.  Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia , 2015, Scientific Reports.

[3]  A. Swaroop,et al.  Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF , 2015, Human mutation.

[4]  Neil A. Miller,et al.  Alström Syndrome: Mutation Spectrum of ALMS1 , 2015, Human mutation.

[5]  J. Shendure,et al.  Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity , 2015, Journal of Medical Genetics.

[6]  K. Steel,et al.  A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants , 2015, European Journal of Human Genetics.

[7]  C. Klaver,et al.  Causes and consequences of inherited cone disorders , 2014, Progress in Retinal and Eye Research.

[8]  Jieun Song,et al.  Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling , 2014, Proceedings of the National Academy of Sciences.

[9]  Silvio Alessandro Di Gioia,et al.  FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. , 2012, Human molecular genetics.

[10]  Robert P. Carson,et al.  Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules. , 2012, American journal of physiology. Renal physiology.

[11]  L. Hong,et al.  Identification of new altered genes in rat cochleae with noise-induced hearing loss. , 2012, Gene.

[12]  Wallace F. Marshall,et al.  Centrosome Loss in the Evolution of Planarians , 2012, Science.

[13]  J. Naggert,et al.  Alström Syndrome: Genetics and Clinical Overview , 2011, Current genomics.

[14]  Emma Lundberg,et al.  Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods , 2011, The EMBO journal.

[15]  P. Beales,et al.  Ciliopathies: an expanding disease spectrum , 2011, Pediatric Nephrology.

[16]  J. Corbo,et al.  Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. , 2010, American journal of human genetics.

[17]  I. Chowers,et al.  Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.

[18]  W. Berger,et al.  The molecular basis of human retinal and vitreoretinal diseases , 2010, Progress in Retinal and Eye Research.

[19]  Shomi S. Bhattacharya,et al.  Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait , 2010, Nature Reviews Genetics.

[20]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[21]  F. Hildebrandt,et al.  Nephronophthisis-associated ciliopathies. , 2007, Journal of the American Society of Nephrology : JASN.

[22]  K. Mykytyn,et al.  Differences in Renal Tubule Primary Cilia Length in a Mouse Model of Bardet-Biedl Syndrome , 2007, Nephron Experimental Nephrology.

[23]  C. Hamel,et al.  Orphanet Journal of Rare Diseases BioMed Central Review , 2006 .

[24]  Hongyu Zhao,et al.  A biphasic pattern of gene expression during mouse retina development , 2006, BMC Developmental Biology.

[25]  J. Naggert,et al.  New Alström syndrome phenotypes based on the evaluation of 182 cases. , 2005, Archives of internal medicine.

[26]  M. Mann,et al.  Proteomic characterization of the human centrosome by protein correlation profiling , 2003, Nature.

[27]  R. Koenig Bardet-Biedl syndrome and Usher syndrome. , 2003, Developments in ophthalmology.

[28]  C. Rivolta,et al.  Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. , 2000, American journal of human genetics.

[29]  M. Hentze,et al.  A Perfect Message RNA Surveillance and Nonsense-Mediated Decay , 1999, Cell.

[30]  R. Klein,et al.  Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. The Epidemiology of Hearing Loss Study. , 1998, American journal of epidemiology.

[31]  David Haussler,et al.  Improved splice site detection in Genie , 1997, RECOMB '97.

[32]  E. Berson Retinitis pigmentosa. The Friedenwald Lecture. , 1993, Investigative ophthalmology & visual science.

[33]  D. Wilson,et al.  Retinal dystrophy in Jeune's syndrome. , 1987, Archives of ophthalmology.

[34]  J. Heckenlively,et al.  Visual field changes in cone-rod degenerations. , 1982, Archives of ophthalmology.

[35]  L. Bard,et al.  Retinal involvement in thoracic-pelvic-phalangeal dystrophy. , 1978, Archives of ophthalmology.

[36]  P. Gouras,et al.  Progressive cone-rod degeneration. , 1968, Archives of ophthalmology.

[37]  A. D. Gioia Targeted sequence capture and ultra high throughput sequencing for gene discovery in inherited diseases , 2013 .

[38]  J. Jerger,et al.  Gender affects audiometric shape in presbyacusis. , 1993, Journal of the American Academy of Audiology.