Published in Ann Neurol on July 01, 2004
Genetics of epilepsy: The testimony of twins in the molecular era. Neurology (2014) 1.43
Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families. Epilepsia (2007) 1.07
Genetic influence on rolandic epilepsy. Ann Neurol (2005) 1.00
The state of the art in the genetic analysis of the epilepsies. Curr Neurol Neurosci Rep (2007) 0.82
A practical, simple, and useful method of categorizing interictal EEG features in children. Neurology (2015) 0.75
"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances. Ital J Pediatr (2011) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia (2010) 18.28
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med (2002) 6.19
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00
Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med (2008) 5.43
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
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
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res (2004) 4.54
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32
Antihypertensive treatments obscure familial contributions to blood pressure variation. Hypertension (2003) 4.19
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol (2005) 3.99
New concepts in classification of the epilepsies: entering the 21st century. Epilepsia (2011) 3.99
Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet (2009) 3.94
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst (2002) 3.46
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 3.35
Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study. Lancet Neurol (2013) 3.22
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol (2005) 3.19
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet (2011) 3.07
Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. J Natl Cancer Inst (2013) 3.06
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet (2011) 3.03
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature (2011) 2.96
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst (2003) 2.84
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res (2006) 2.79
Identification of Lynch syndrome among patients with colorectal cancer. JAMA (2012) 2.77
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
Alcohol consumption and cardiovascular mortality accounting for possible misclassification of intake: 11-year follow-up of the Melbourne Collaborative Cohort Study. Addiction (2007) 2.72
Agreement between self-reported breast cancer treatment and medical records in a population-based Breast Cancer Family Registry. J Clin Oncol (2005) 2.70
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2009) 2.56
A comparison of adiposity measures as predictors of all-cause mortality: the Melbourne Collaborative Cohort Study. Obesity (Silver Spring) (2007) 2.51
Genome-wide association study identifies new prostate cancer susceptibility loci. Hum Mol Genet (2011) 2.51
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res (2007) 2.46
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome. J Natl Cancer Inst (2012) 2.44
Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology (2007) 2.39
Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol (2008) 2.39
Should older people in residential care receive vitamin D to prevent falls? Results of a randomized trial. J Am Geriatr Soc (2005) 2.38
Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet (2011) 2.35
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.32
Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut (2010) 2.30
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30