Published in Am J Med Genet B Neuropsychiatr Genet on April 05, 2007
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Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
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The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry (2010) 4.92
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet (2008) 3.90
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
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A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 3.35
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst (2007) 2.77
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet (2009) 2.76
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A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet (2010) 2.56
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet (2011) 2.43
Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat (2006) 2.39
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood (2007) 2.32
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
Excess of high frequency electroencephalogram oscillations in boys with autism. Biol Psychiatry (2007) 2.15
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet (2010) 2.14
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res (2011) 2.09
Autism spectrum disorders in children with active epilepsy and learning disability: comorbidity, pre- and perinatal background, and seizure characteristics. Dev Med Child Neurol (2003) 2.06
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders. BMC Psychiatry (2009) 2.03
Adolescent-onset anorexia nervosa: 18-year outcome. Br J Psychiatry (2009) 2.03
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Psychiatric disorders in Norwegian 8- to 10-year-olds: an epidemiological survey of prevalence, risk factors, and service use. J Am Acad Child Adolesc Psychiatry (2007) 1.90
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Variation in the oxytocin receptor gene is associated with pair-bonding and social behavior. Biol Psychiatry (2011) 1.89
Autism spectrum disorders in children with normal intellectual levels: associated impairments and subgroups. Dev Med Child Neurol (2004) 1.87
Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target. J Clin Invest (2011) 1.87
Confounding factors influencing amyloid Beta concentration in cerebrospinal fluid. Int J Alzheimers Dis (2010) 1.86
Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol (2008) 1.86
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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet (2010) 1.74
Psychiatric telephone interview with parents for screening of childhood autism - tics, attention-deficit hyperactivity disorder and other comorbidities (A-TAC): preliminary reliability and validity. Br J Psychiatry (2005) 1.69
Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Arch Gen Psychiatry (2012) 1.66
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Hum Mol Genet (2004) 1.66
Autism spectrum disorders in the DSM-V: better or worse than the DSM-IV? Res Dev Disabil (2011) 1.65
The Swedish Twin Registry: establishment of a biobank and other recent developments. Twin Res Hum Genet (2012) 1.65
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65
Asperger syndrome and autism: a comparative longitudinal follow-up study more than 5 years after original diagnosis. J Autism Dev Disord (2007) 1.65
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Screening for the attention deficit hyperactivity disorder phenotype using the strength and difficulties questionnaire. Eur Child Adolesc Psychiatry (2011) 1.60
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome. Res Dev Disabil (2011) 1.59
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet (2011) 1.58
Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet (2009) 1.58
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet (2003) 1.56
The Autism--Tics, AD/HD and other Comorbidities (A-TAC) telephone interview: convergence with the Child Behavior Checklist (CBCL). Nord J Psychiatry (2010) 1.56
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 1.56
Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatry (2006) 1.55
Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut (2012) 1.52
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
The impact of ADHD and autism spectrum disorders on temperament, character, and personality development. Am J Psychiatry (2006) 1.51
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil (2008) 1.49
Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication. Acta Paediatr (2009) 1.49
Autism in adults: symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood. J Child Psychol Psychiatry (2007) 1.48
Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice. Nat Genet (2007) 1.47
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Autism before diagnosis: crying, feeding and sleeping problems in the first two years of life. Acta Paediatr (2013) 1.44
The autism--tics, AD/HD and other comorbidities inventory (A-TAC): further validation of a telephone interview for epidemiological research. BMC Psychiatry (2010) 1.43
Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. Eur J Endocrinol (2012) 1.43
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41