Published in Am J Hum Genet on October 28, 2010
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
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Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03
Mannan-binding lectin (MBL)-associated serine protease-1 (MASP-1), a serine protease associated with humoral pattern-recognition molecules: normal and acute-phase levels in serum and stoichiometry of lectin pathway components. Clin Exp Immunol (2012) 0.97
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis (2015) 0.92
Quantitative characterization of the activation steps of mannan-binding lectin (MBL)-associated serine proteases (MASPs) points to the central role of MASP-1 in the initiation of the complement lectin pathway. J Biol Chem (2013) 0.91
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing. J Transl Med (2013) 0.85
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Two sibs with Malpuech syndrome. Am J Med Genet (1999) 1.42
Insulin-like growth factor-binding protein 5 (Igfbp5) compromises survival, growth, muscle development, and fertility in mice. Proc Natl Acad Sci U S A (2004) 1.41
IGFBP-5 regulates muscle cell differentiation by binding to IGF-II and switching on the IGF-II auto-regulation loop. J Cell Biol (2008) 1.31
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A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet (1983) 1.22
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A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11
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A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr (1978) 1.03
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? Am J Med Genet A (2008) 0.99
Mannan-binding lectin-associated serine protease 3 cleaves synthetic peptides and insulin-like growth factor-binding protein 5. Arch Biochem Biophys (2006) 0.98
Three additional cases of the Michels syndrome. Am J Med Genet A (2007) 0.95
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). J Med Genet (1996) 0.91
Michels syndrome in a Brazilian girl born to consanguineous parents. Am J Med Genet (1995) 0.91
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet A (2007) 0.90
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet A (2005) 0.89
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). Am J Ophthalmol (1991) 0.87
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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
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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
Structure and conserved RNA binding of the PAZ domain. Nature (2003) 5.28
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
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
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
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial. Lancet Oncol (2010) 2.89
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
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
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
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Structural basis of lysine-acetylated HIV-1 Tat recognition by PCAF bromodomain. Mol Cell (2002) 2.20
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
Serum BNP concentration and left ventricular mass in CAPD and automated peritoneal dialysis patients. Perit Dial Int (2007) 2.17
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
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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
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 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
Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition. Proc Natl Acad Sci U S A (2009) 1.76
Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
A dimeric viral SET domain methyltransferase specific to Lys27 of histone H3. Nat Struct Biol (2003) 1.67
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain (2013) 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
Assessment of ventricular repolarization in a large group of children with early onset deafness. Pacing Clin Electrophysiol (2004) 1.46
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
Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome. Heart Rhythm (2013) 1.39
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Renal injury due to hepatic hydatid disease. Nephrol Dial Transplant (2010) 1.38
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Maternal famine, de novo mutations, and schizophrenia. JAMA (2006) 1.35
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet (2010) 1.31
Structural insights of the specificity and catalysis of a viral histone H3 lysine 27 methyltransferase. J Mol Biol (2006) 1.30
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet (2005) 1.20
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers (2010) 1.20
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Structures of YAP protein domains reveal promising targets for development of new cancer drugs. Semin Cell Dev Biol (2012) 1.19
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet (2002) 1.17
Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One (2012) 1.17
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol (2009) 1.17