Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
Zhou D et al.
Biomolecules, 2025
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC et al.
Annual Review of Genomics and Human Genetics, 2022
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
Fahim AT et al.
Ophthalmology. Retina, 2020
Scalable probabilistic PCA for large-scale genetic variation data.
Agrawal A et al.
Plos Genetics, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Motile and non-motile cilia in human pathology: from function to phenotypes.
Mitchison HM et al.
The Journal of Pathology, 2017
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.
Chaitankar V et al.
Progress in Retinal and Eye Research, 2016
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH et al.
Journal of Medical Genetics, 2016
Molecular studies of phenotype variation in canine RPGR-XLPRA1.
Appelbaum T et al.
Molecular Vision, 2016
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM et al.
Genetics and Molecular Research : Gmr, 2015
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Szymanska K et al.
Journal of Pediatric Genetics, 2014
Interpreting human genetic variation with in vivo zebrafish assays.
Davis EE et al.
Biochimica Et Biophysica Acta, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M et al.
The Lancet. Neurology, 2013
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.
Ratnapriya R et al.
Genome Medicine, 2013
Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
Ronquillo CC et al.
Vision Research, 2012
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A et al.
Human Molecular Genetics, 2012
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S et al.
American Journal of Human Genetics, 2012
The ciliopathies: a transitional model into systems biology of human genetic disease.
Davis EE et al.
Current Opinion in Genetics & Development, 2012
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
Fahim AT et al.
Advances in Experimental Medicine and Biology, 2012
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Piñeiro-Gallego T et al.
Molecular Vision, 2012
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
Gascue C et al.
Pediatric Nephrology (berlin, Germany), 2011
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T et al.
Clinical Genetics, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.
Logan CV et al.
Molecular Neurobiology, 2011
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Stone EM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
Patil SB et al.
Plos One, 2011
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Fahim AT et al.
Plos One, 2011
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
Wright AF et al.
Nature Reviews. Genetics, 2010
Functional modules, mutational load and human genetic disease.
Zaghloul NA et al.
Trends in Genetics : Tig, 2010
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Murga-Zamalloa CA et al.
Journal of Genetics, 2009
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008