Related references
Note: Only part of the references are listed.New mutations in GJA8 expand the phenotype to include total sclerocornea
A. S. Ma et al.
CLINICAL GENETICS (2018)
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders
R. Holt et al.
HUMAN GENETICS (2017)
Mutations and mechanisms in congenital and age-related cataracts
Alan Shiels et al.
EXPERIMENTAL EYE RESEARCH (2017)
Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract
Debbie S. Kuo et al.
PLOS ONE (2017)
Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos
Akihiro Yasue et al.
SCIENTIFIC REPORTS (2017)
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier et al.
GENETICS IN MEDICINE (2016)
Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia
Nicolas Chassaing et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Connexinopathies: a structural and functional glimpse
Isaac E. Garcia et al.
BMC CELL BIOLOGY (2016)
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing
Alan S. Ma et al.
HUMAN MUTATION (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
Yinhui Yu et al.
SCIENTIFIC REPORTS (2016)
The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Kyungsoo Ha et al.
MOLECULAR CYTOGENETICS (2016)
CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts
Lin Yuan et al.
SCIENTIFIC REPORTS (2016)
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma
Linda M. Reis et al.
BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
Patricia Fernandez-San Jose et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
ABRA: improved coding indel detection via assembly-based realignment
Lisle E. Mose et al.
BIOINFORMATICS (2014)
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
Ivan Prokudin et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Pax6-dependent, but β-catenin-independent, function of Bcl9 proteins in mouse lens development
Claudio Cantu et al.
GENES & DEVELOPMENT (2014)
Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
Rachel L. Gillespie et al.
OPHTHALMOLOGY (2014)
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract
Donna S. Mackay et al.
HUMAN GENOMICS (2014)
Microthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum
Simon E. Skalicky et al.
JAMA OPHTHALMOLOGY (2013)
Proteomics and Phosphoproteomics Analysis of Human Lens Fiber Cell Membranes
Zhen Wang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Connexin50D47A Decreases Levels of Fiber Cell Connexins and Impairs Lens Fiber Cell Differentiation
Viviana M. Berthoud et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Jill A. Rosenfeld et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
Matthew Bower et al.
HUMAN MUTATION (2012)
Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management
Shaheen P. Shah et al.
OPHTHALMOLOGY (2012)
Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2
Chun-hong Xia et al.
PLOS ONE (2012)
High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations
Irina Balikova et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2011)
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50
Jun-Jie Tong et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2011)
Mutations in connexin genes and disease
Anna Pfenniger et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2011)
Phosphorylation of Connexin 50 by Protein Kinase A Enhances Gap Junction and Hemichannel Function
Jialu Liu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Eye development genes and known syndromes
Anne M. Slavotinek
MOLECULAR GENETICS AND METABOLISM (2011)
Anophthalmos, Microphthalmos, and Typical Coloboma in the United Kingdom: A Prospective Study of Incidence and Risk
Shaheen P. Shah et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Structural Variation in the Human Genome and its Role in Disease
Pawel Stankiewicz et al.
ANNUAL REVIEW OF MEDICINE (2010)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Phenotypic variability and genetic susceptibility to genomic disorders
Santhosh Girirajan et al.
HUMAN MOLECULAR GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Seeing Clearly: The Dominant and Recessive Nature of FOXE3 in Eye Developmental Anomalies
Sibel Ugur Iseri et al.
HUMAN MUTATION (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
NATURE GENETICS (2008)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Heather C. Mefford et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Genetic heterogeneity in microcornea-cataract:: Five novel mutations in CRYAA, CRYGD, and GJA8
Lars Hansen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Surya Prakash G. Ponnam et al.
JOURNAL OF MEDICAL GENETICS (2007)
Transgenic overexpression of connexin50 induces cataracts
June Chung et al.
EXPERIMENTAL EYE RESEARCH (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
Eva Klopocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
CH Xia et al.
DEVELOPMENT (2006)
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
GENOME RESEARCH (2005)
Unique and redundant connexin contributions to lens development
TW White
SCIENCE (2002)
A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
B Chang et al.
HUMAN MOLECULAR GENETICS (2002)
Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract
J Graw et al.
EXPERIMENTAL EYE RESEARCH (2001)
Share Paper
