Citation Impact
Citing Papers
Meta-Analysis of GJB2 Mutation 35delG Frequencies in Europe
2001
Distinct contributions of KH domains to substrate binding affinity of Drosophila P-element somatic inhibitor protein
2006 StandoutNobel
Molecular and cellular genetics of fragile X syndrome
1999
Molecular epidemiology of DFNB1 deafness in France
2004
Revised diagnostic criteria for the Marfan syndrome
1996 Standout
GJB2 mutations: Passage through Iran
2005
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
2000
A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment
2001
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Sox9 Modulates Proliferation and Expression of Osteogenic Markers of Adipose-Derived Stem Cells (ASC)
2013 Standout
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
The tight junction: a multifunctional complex
2004 Standout
Newborn Hearing Screening — A Silent Revolution
2006 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Connexin disorders of the ear, skin, and lens
2004
Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome
2002 Standout
Multifunctional strands in tight junctions
2001 Standout
A duplication in the L1CAM gene associated with X–linked hydrocephalus
1993
Reaching a Genetic and Molecular Understanding of Skeletal Development
2002 Standout
Hereditary deafness and phenotyping in humans
2002
Synaptic transmission: A bidirectional and self-modifiable form of cell-cell communication
1993 StandoutNobel
Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29
2001
Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts
2005
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
2006 Standout
Connexin gene mutations in human genetic diseases
2000
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
2000
Developmental regulation of the growth plate
2003 StandoutNature
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
1994
Sensorineural hearing loss in children
2005 Standout
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome
1999
The Novel Zinc Finger-Containing Transcription Factor Osterix Is Required for Osteoblast Differentiation and Bone Formation
2002 Standout
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
The Transcription Factors L-Sox5 and Sox6 Are Essential for Cartilage Formation
2001
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 Standout
GJB2: The spectrum of deafness-causing allele variants and their phenotype
2004
Neural Science: A Century of Progress and the Mysteries that Remain
2000 StandoutNobel
Consanguinity and endogamy in Northern Tunisia and its impact on non‐syndromic deafness
2004
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
Mutations in the cell adhesion molecule LI cause mental retardation
1995
Transient Receptor Potential Cation Channels in Disease
2007 Standout
X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
1994
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus
1992
CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1
1995
Population Screening in the Age of Genomic Medicine
2003
DNA methylation and human disease
2005 Standout
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
1994
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
The prevalence of connexin 26 ( GJB2 ) mutations in the Chinese population
2002
Lysosomal storage diseases
1995
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
1999
Magnesium in Man: Implications for Health and Disease
2014 Standout
Type 2 diabetes: principles of pathogenesis and therapy
2005 Standout
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins
1997 StandoutNobel
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
2003
Segregation of an insertional chromosome rearrangement in 3 generations.
1978
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
GENETIC SCREENING: Carriers and Affected Individuals
2004
Prevalent connexin 26 gene (GJB2) mutations in Japanese
2000
The Usher syndromes
1999
Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females
2003
Molecular Genetics of Hearing Loss
2001
Life cycle of connexins in health and disease
2006 Standout
Claudins and the Modulation of Tight Junction Permeability
2013 Standout
Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study.
2000
Clinical Practice Guideline: Sudden Hearing Loss (Update)
2019 Standout
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
The Molecular Biology of Axon Guidance
1996 StandoutScience
Claudin-based tight junctions are crucial for the mammalian epidermal barrier
2002 Standout
Conserved Structures and Diversity of Functions of RNA-Binding Proteins
1994 StandoutScience
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu
1998 StandoutNobel
Genetics of Sensory Mechanotransduction
2002 StandoutNobel
Works of Jan E. Dumon being referenced
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis
1990
Fucosidosis revisited: A review of 77 patients
1991
Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness
1998
Segregation of the fragile X mutation from an affected male to his normal daughter
1992
Blomstrand lethal osteochondrodysplasia
1996
Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY
1992
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
1991
Fragile X trait in a large kindred: transmission also through normal males.
1983
Chromosome 13 deletion and retinoblastoma
1983