Published in BMC Genomics on April 12, 2011
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
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
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
CONTRA: copy number analysis for targeted resequencing. Bioinformatics (2012) 2.64
Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev (2011) 2.31
Detection of somatic copy number alterations in cancer using targeted exome capture sequencing. Neoplasia (2011) 2.21
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics (2013) 2.07
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Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66
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An integrative probabilistic model for identification of structural variation in sequencing data. Genome Biol (2012) 1.56
Modeling read counts for CNV detection in exome sequencing data. Stat Appl Genet Mol Biol (2011) 1.55
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica (2014) 1.20
Copy number variants are a common cause of non-syndromic hearing loss. Genome Med (2014) 1.18
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer (2012) 1.14
CoNVEX: copy number variation estimation in exome sequencing data using HMM. BMC Bioinformatics (2013) 1.09
Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches. Cancer Genet (2013) 1.06
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet (2014) 1.03
Inferring copy number and genotype in tumour exome data. BMC Genomics (2014) 1.01
Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing. Genet Med (2014) 1.01
Unraveling overlapping deletions by agglomerative clustering. BMC Genomics (2013) 0.94
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet (2016) 0.93
Multiplex target capture with double-stranded DNA probes. Genome Med (2013) 0.91
Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat (2014) 0.88
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer (2015) 0.88
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. BMC Genomics (2012) 0.88
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis Model Mech (2012) 0.86
Robust Detection and Identification of Sparse Segments in Ultra-High Dimensional Data Analysis. J R Stat Soc Series B Stat Methodol (2012) 0.85
The most informative spacing test effectively discovers biologically relevant outliers or multiple modes in expression. Bioinformatics (2014) 0.84
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet (2015) 0.83
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet (2016) 0.82
Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. Nucleic Acids Res (2015) 0.82
Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection. Nucleic Acids Res (2014) 0.81
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Clin Genet (2015) 0.80
New challenges for BRCA testing: a view from the diagnostic laboratory. Eur J Hum Genet (2016) 0.80
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing. PeerJ (2016) 0.78
Comprehensive mutation profiling by next-generation sequencing of effusion fluids from patients with high-grade serous ovarian carcinoma. Cancer Cytopathol (2015) 0.77
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. PLoS One (2015) 0.75
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight (2016) 0.75
Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat (2017) 0.75
Homeobox genes gain trimethylation of histone H3 lysine 4 in glioblastoma tissue. Biosci Rep (2016) 0.75
Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. J Clin Invest (2014) 0.75
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. Int J Cancer (2017) 0.75
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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
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High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods (2008) 12.56
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Computational methods for discovering structural variation with next-generation sequencing. Nat Methods (2009) 7.20
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Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res (2008) 4.22
Detecting copy number variation with mated short reads. Genome Res (2010) 2.75
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data. Bioinformatics (2010) 1.59
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv Exp Med Biol (2010) 1.58
Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clin Chem (2010) 1.18
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
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
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
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
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
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
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
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
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
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet (2009) 1.56
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
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Mol Cancer Res (2007) 1.40
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
Eight-signature classifier for prediction of nasopharyngeal [corrected] carcinoma survival. J Clin Oncol (2011) 1.23
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
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet (2002) 1.17
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet (2005) 1.15
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer (2012) 1.14
Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas. Mol Cancer (2009) 1.12
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A (2013) 1.12
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet (2013) 1.10
Comparative analysis of cancer genes in the human and chimpanzee genomes. BMC Genomics (2006) 1.10
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet (2010) 1.07
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics (2006) 1.06
Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol (2012) 1.06
Evaluating curricular effects on medical students' knowledge and self-perceived skills in cancer prevention. Acad Med (2002) 1.02
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
Race: a genetic melting-pot. Nature (2003) 0.98
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome (2010) 0.96
A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. PLoS One (2012) 0.96
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet (2008) 0.95
Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet (2012) 0.94
Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22. Genome Res (2005) 0.94
Assessing physical examination skills of senior medical students: knowing how versus knowing when. Acad Med (2003) 0.93
Disciplinary split: a threat to geriatrics interdisciplinary team training. J Am Geriatr Soc (2004) 0.91