Published in Am J Hum Genet on May 06, 2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet (2012) 1.15
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clin Genet (2011) 0.90
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. BMC Med Genomics (2013) 0.86
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet (2014) 0.84
A p.C343S missense mutation in PJVK causes progressive hearing loss. Gene (2012) 0.81
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet J Rare Dis (2015) 0.78
Global Analysis of Protein Expression of Inner Ear Hair Cells. J Neurosci (2016) 0.75
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. Biochem Genet (2013) 0.75
Activation of TRAIL-DR5 pathway promotes sensorineural degeneration in the inner ear. Aging Cell (2016) 0.75
The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. Genetics (2015) 0.75
Altered expression of securin (Pttg1) and serpina3n in the auditory system of hearing-impaired Tff3-deficient mice. Cell Mol Life Sci (2010) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
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Exact genetic linkage computations for general pedigrees. Bioinformatics (2002) 3.35
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From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered (1996) 2.13
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. Proc Natl Acad Sci U S A (2006) 1.78
Selective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway. Mol Cell Biol (1998) 1.59
An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury. Cell (2007) 1.56
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet (2006) 1.51
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet (2009) 1.37
The intracellular granzyme B inhibitor, proteinase inhibitor 9, is up-regulated during accessory cell maturation and effector cell degranulation, and its overexpression enhances CTL potency. J Immunol (2003) 1.32
Caspases, the enemy within, and their role in oxidative stress-induced apoptosis of inner ear sensory cells. Otol Neurotol (2004) 1.12
Diverse expression patterns of LIM-homeodomain transcription factors (LIM-HDs) in mammalian inner ear development. Dev Dyn (2008) 1.01
Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am J Med Genet A (2007) 0.95
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr (2003) 0.93
Proteinase inhibitor 6 cannot be secreted, which suggests it is a new type of cellular serpin. J Biol Chem (1996) 0.92
SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. J Biochem (2007) 0.88
Identification and purification of a novel serine proteinase inhibitor. J Biol Chem (1993) 0.83
Involvement of lysosomes in the early stages of axon degeneration. Neurochem Int (2009) 0.81
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol (2012) 3.86
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
Proliferation of functional hair cells in vivo in the absence of the retinoblastoma protein. Science (2005) 2.81
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
Promoting Arab and Israeli cooperation: peacebuilding through health initiatives. Lancet (2005) 2.48
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
Traditional risk factors are not major contributors to the variance in carotid intima-media thickness. Stroke (2013) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Passive smoking increases pain perception in children undergoing venous catheterization. Acta Paediatr (2013) 2.02
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet (2006) 1.90
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. Proc Natl Acad Sci U S A (2006) 1.78
Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition. Proc Natl Acad Sci U S A (2009) 1.76
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet (2004) 1.76
Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Genetics and pathological mechanisms of Usher syndrome. J Hum Genet (2010) 1.69
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A (2002) 1.65
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS One (2011) 1.55
3C syndrome with cryptorchidism and posterior embryotoxon. Clin Dysmorphol (2005) 1.54
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Pediatr Neurosurg (2010) 1.48
Methylenetetrahydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation. Clin Experiment Ophthalmol (2005) 1.47
Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis (2012) 1.47
Assessment of ventricular repolarization in a large group of children with early onset deafness. Pacing Clin Electrophysiol (2004) 1.46
Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci (2002) 1.44
Advances in catheter ablation: atrial fibrillation ablation in patients with mitral mechanical prosthetic valve. Curr Cardiol Rev (2012) 1.44
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. Mol Cytogenet (2011) 1.42
Thrombophilia and avascular necrosis of femoral head in kidney allograft recipients. Nephrol Dial Transplant (2006) 1.41
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Mol Cancer Res (2007) 1.40
The goiter prevalence and urinary iodine levels among adolescents. Turk J Pediatr (2011) 1.40
Thrombophilic risk factors in epileptic children treated with valproic Acid. Pediatr Neurol (2009) 1.40
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37