Published in Dev Med Child Neurol on November 16, 2012
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer (2015) 1.40
Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I. J Pediatr (2015) 1.14
Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol (2014) 0.99
Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. PLoS Genet (2014) 0.98
Autism traits in the RASopathies. J Med Genet (2013) 0.95
Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase. Nat Neurosci (2014) 0.90
mTOR, a Potential Target to Treat Autism Spectrum Disorder. CNS Neurol Disord Drug Targets (2016) 0.84
Emotional and behavioural difficulties in children and adolescents with hearing impairment: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry (2015) 0.83
Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1. Neurology (2015) 0.80
A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I. Ann Clin Transl Neurol (2016) 0.79
Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. Exp Neurobiol (2015) 0.78
Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring. J Autism Dev Disord (2016) 0.78
Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A (2014) 0.78
Autism spectrum disorder symptomatology in children with neurofibromatosis type 1. Dev Med Child Neurol (2013) 0.76
Neurofibromatosis type 1 and attention deficit hyperactivity disorder: a case study and literature review. Neuropsychiatr Dis Treat (2015) 0.76
Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms. J Neurodev Disord (2015) 0.76
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT). JAMA Psychiatry (2016) 0.75
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. PLoS Genet (2017) 0.75
Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research. J Am Acad Child Adolesc Psychiatry (2016) 0.75
Comprehensive Description of Comorbidity for Autism Spectrum Disorder in a General Population. Perm J (2017) 0.75
Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1. Eur J Pediatr (2014) 0.75
Human stem cell modeling in neurofibromatosis type 1 (NF1). Exp Neurol (2017) 0.75
Motor problems in children with neurofibromatosis type 1. J Neurodev Disord (2017) 0.75
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network. J Autism Dev Disord (2016) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
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
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72
Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
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
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet (2006) 6.67
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst (2010) 3.94
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol (2008) 3.54
MRI breast screening in high-risk women: cancer detection and survival analysis. Breast Cancer Res Treat (2014) 3.46
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet (2003) 3.24
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst (2013) 2.93
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol (2013) 2.71
Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2005) 2.70
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
miRNA-mediated deadenylation is orchestrated by GW182 through two conserved motifs that interact with CCR4-NOT. Nat Struct Mol Biol (2011) 2.61
A new social communication intervention for children with autism: pilot randomised controlled treatment study suggesting effectiveness. J Child Psychol Psychiatry (2004) 2.59
A global perspective on trends in nature-based tourism. PLoS Biol (2009) 2.58
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Vision impairment and dual sensory problems in middle age. Ophthalmic Physiol Opt (2014) 2.04
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res (2014) 1.97
Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule. J Clin Oncol (2012) 1.90
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer (2007) 1.84
Zoledronic acid treatment of 5T2MM-bearing mice inhibits the development of myeloma bone disease: evidence for decreased osteolysis, tumor burden and angiogenesis, and increased survival. J Bone Miner Res (2003) 1.82
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res (2006) 1.77
Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet (2012) 1.76
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet (2012) 1.74
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A (2013) 1.72
A pilot study of compositional analysis of the breast and estimation of breast mammographic density using three-dimensional T1-weighted magnetic resonance imaging. Cancer Epidemiol Biomarkers Prev (2008) 1.70
Diversity of noroviruses cocirculating in the north of England from 1998 to 2001. J Clin Microbiol (2004) 1.65
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) (2011) 1.64
A specific and rapid neural signature for parental instinct. PLoS One (2008) 1.64
X-linked retinoschisis: an update. J Med Genet (2006) 1.64
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res (2003) 1.62
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Antitumor effects of clinical dosing regimens of bisphosphonates in experimental breast cancer bone metastasis. J Natl Cancer Inst (2007) 1.56
The conceptualization and measurement of therapeutic alliance: an empirical review. Clin Psychol Rev (2008) 1.56
Evolutionary dynamics of local pandemic H1N1/2009 influenza virus lineages revealed by whole-genome analysis. J Virol (2011) 1.55
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet (2002) 1.54
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
Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2. J Med Genet (2013) 1.51
Targeting the programmed cell death 1: programmed cell death ligand 1 pathway reverses T cell exhaustion in patients with sepsis. Crit Care (2014) 1.48
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study. Breast Cancer Res (2009) 1.42
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians. Cancer Cell (2011) 1.40
The impact of alcohol on clinical outcomes in established psychosis: a longitudinal study. Addiction (2014) 1.38
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res (2006) 1.37
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
High phosphoantigen levels in bisphosphonate-treated human breast tumors promote Vgamma9Vdelta2 T-cell chemotaxis and cytotoxicity in vivo. Cancer Res (2011) 1.34
Basal cell carcinomas in gorlin syndrome: a review of 202 patients. J Skin Cancer (2010) 1.34
Public health value of next-generation DNA sequencing of enterohemorrhagic Escherichia coli isolates from an outbreak. J Clin Microbiol (2012) 1.31
Evolutionary pathways of the pandemic influenza A (H1N1) 2009 in the UK. PLoS One (2011) 1.31
Impaired tamoxifen metabolism reduces survival in familial breast cancer patients. Clin Cancer Res (2008) 1.28
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet (2011) 1.27
Quality of interaction between at-risk infants and caregiver at 12-15 months is associated with 3-year autism outcome. J Child Psychol Psychiatry (2012) 1.27
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer (2002) 1.26
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev (2009) 1.25
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One (2010) 1.25
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. Am J Med Genet A (2011) 1.24
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res (2011) 1.24
Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet (2011) 1.23
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A (2002) 1.23
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. Cardiovasc Res (2005) 1.23
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
Parent-infant interaction in infant siblings at risk of autism. Res Dev Disabil (2012) 1.22
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology (2009) 1.21
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20
Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet (2012) 1.20
Cancer risk in Lynch Syndrome. Fam Cancer (2013) 1.19
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet (2011) 1.19
Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy. Breast Cancer Res Treat (2010) 1.18
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 1.17
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat (2006) 1.17
Differential regulation of elastic fiber formation by fibulin-4 and -5. J Biol Chem (2009) 1.16
A cathepsin K inhibitor reduces breast cancer induced osteolysis and skeletal tumor burden. Cancer Res (2007) 1.15