Published in Nature on July 24, 2003
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Conceptual approaches to the study of health disparities. Annu Rev Public Health (2012) 1.33
The ethics of characterizing difference: guiding principles on using racial categories in human genetics. Genome Biol (2008) 1.26
Understandings of basic genetics in the United States: results from a national survey of black and white men and women. Public Health Genomics (2010) 1.21
Race/ethnicity and breast cancer estrogen receptor status: impact of class, missing data, and modeling assumptions. Cancer Causes Control (2008) 1.19
Family physicians' beliefs about genetic contributions to racial/ethnic and gender differences in health and clinical decision-making. Community Genet (2008) 0.79
Folk beliefs about genetic variation predict avoidance of biracial individuals. Front Psychol (2015) 0.75
Genomic ancestry as a predictor of haemodynamic profile in heart failure. Open Heart (2016) 0.75
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
Perspective: Evolution and detection of genetic robustness. Evolution (2003) 4.10
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
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
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
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
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
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
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
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
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
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat (2010) 0.91
Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat (2014) 0.88
Genomic sequencing in the service of human rights. Int J Epidemiol (2002) 0.82
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertil Steril (2011) 0.81
Mutant ADA2 in vasculopathies. N Engl J Med (2014) 0.81
Clinical usefulness of genetic information for predicting radiographic damage in rheumatoid arthritis. J Rheumatol (2002) 0.81
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas (2016) 0.80
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A (2011) 0.77
A structured coalescent process for seasonally fluctuating populations. Evolution (2009) 0.77
Germline mutations of inhibins in early-onset ovarian epithelial tumors. Hum Mutat (2013) 0.76
Genetics and genomics: a call for papers. Arch Surg (2007) 0.75
Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers. Cancer Genet Cytogenet (2008) 0.75
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. J Pediatr Hematol Oncol (2016) 0.75
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab (2015) 0.75
Defining women at high risk of ovarian cancer. Cancer Res (2007) 0.75
Forum: The interplay of genes and environment in psychiatric disorders. Curr Opin Psychiatry (2008) 0.75
Lasker Award winner Mary-Claire King. Nat Med (2014) 0.75
The scientist as world citizen. Science (2012) 0.75