Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome

(2017) Imane Cherkaoui Jaouad et al.   European Journal of Medical Genetics

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

(2016) S Rahimi-Aliabadi et al.   EYE

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

(2016) Cecinio C. Ronquillo et al.   FASEB JOURNAL

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

(2016) Zachry T. Soens et al.   GENETICS IN MEDICINE

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused byNPHP5mutation

(2016) Louise M. Downs et al.   HUMAN MOLECULAR GENETICS

αB-Crystallin Interacts with Nav1.5 and Regulates Ubiquitination and Internalization of Cell Surface Nav1.5

(2016) Yuan Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protective effect of magnesium acetyltaurate against endothelin-induced retinal and optic nerve injury

(2016) N.N.N. Arfuzir et al.   NEUROSCIENCE

A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

(2016) Vehap Topçu et al.   OPHTHALMIC GENETICS

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

(2016) Karsten Boldt et al.   Nature Communications

Intra-familial phenotype variability in patients with Jalili syndrome

(2015) C Gerth-Kahlert et al.   EYE

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

(2015) Csilla H. Lazar et al.   HUMAN MUTATION

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

(2015) Megana K Prasad et al.   JOURNAL OF MEDICAL GENETICS

Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population

(2015) Chuchu Wang et al.   MOLECULAR GENETICS AND GENOMICS

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

(2015) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

(2014) Frauke Coppieters et al.   GENETICS IN MEDICINE

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

(2014) Arif O. Khan et al.   JOURNAL OF AAPOS

Transcriptional activation of theProx1gene by HIF-1α and HIF-2α in response to hypoxia

(2013) Bisheng Zhou et al.   FEBS LETTERS

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

(2013) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

(2013) Mika Asai-Coakwell et al.   HUMAN MOLECULAR GENETICS

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

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

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

(2013) Lance Doucette et al.   OPHTHALMIC GENETICS

Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene

(2013) Hans U. Luder et al.   PLoS One

Basolateral Mg2+ Extrusion via CNNM4 Mediates Transcellular Mg2+ Transport across Epithelia: A Mouse Model

(2013) Daisuke Yamazaki et al.   PLoS Genetics

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

(2011) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

(2011) Xia Wang et al.   HUMAN MUTATION

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1

(2011) Ditta Zobor et al.   OPHTHALMIC GENETICS

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs

(2010) I K Jalili   EYE

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

(2009) Bozena Polok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

(2009) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis

(2009) E. I. Traboulsi   BRITISH JOURNAL OF OPHTHALMOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome

(2008) Eva Malm   ARCHIVES OF OPHTHALMOLOGY

Hereditary retinal disease

(2008) Peter Goodwin   CURRENT OPINION IN OPHTHALMOLOGY