• Publications
  • Influence
Tricellulin is a tight-junction protein necessary for hearing.
The inner ear has fluid-filled compartments of different ionic compositions, including the endolymphatic and perilymphatic spaces of the organ of Corti; the separation from one another by epithelialExpand
  • 231
  • 17
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual functionExpand
  • 95
  • 4
  • Open Access
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
BackgroundMutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence hasExpand
  • 33
  • 3
  • Open Access
Variation in DNAH1 may contribute to primary ciliary dyskinesia
BackgroundPrimary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinicalExpand
  • 24
  • 3
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)
We identified a homozygous missense mutation (c.196G → T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypicallyExpand
  • 29
  • 2
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.
Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of theExpand
  • 13
  • 2
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13‐p12
viewed to construct the pedigrees and to confirm the relationships in these consanguineous families. Inheritance of deafness in both of the families is consistent with an autosomal recessive trait.Expand
  • 16
  • 2
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptomsExpand
  • 3
  • 2
  • Open Access
Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
To the Editor : Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized with progressive spasticity and weakness of the lower limbs (pure HSP), whichExpand
  • 22
  • 1
  • Open Access
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Background Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamineExpand
  • 15
  • 1