Published in Hum Mol Genet on February 23, 2006
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet (2009) 1.71
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A (2011) 1.71
The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice. Science (2013) 1.64
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53
Genetics of cognition in epilepsy. Epilepsy Behav (2014) 1.51
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet (2009) 1.37
A secreted complement-control-related protein ensures acetylcholine receptor clustering. Nature (2009) 1.33
Genetic basis of human brain evolution. Trends Neurosci (2008) 1.22
Gene expression profiling of alveolar soft-part sarcoma (ASPS). BMC Cancer (2009) 1.20
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet (2010) 1.17
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet (2010) 1.17
MRI analysis of sulcation morphology in polymicrogyria. Epilepsia (2010) 1.07
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet (2010) 1.06
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet (2012) 1.00
Current concepts of polymicrogyria. Neuroradiology (2010) 0.98
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet (2009) 0.97
An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder. Epilepsia (2008) 0.96
RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One (2013) 0.95
Globularity and language-readiness: generating new predictions by expanding the set of genes of interest. Front Psychol (2014) 0.94
A single immunoglobulin-domain protein required for clustering acetylcholine receptors in C. elegans. EMBO J (2011) 0.94
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet (2012) 0.92
Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 0.92
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology (2014) 0.92
Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas. BMC Genet (2007) 0.90
SRPX2 is a novel chondroitin sulfate proteoglycan that is overexpressed in gastrointestinal cancer. PLoS One (2012) 0.89
Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes. PLoS One (2012) 0.89
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat (2011) 0.89
What non-neuronal mechanisms should be studied to understand epileptic seizures? Adv Exp Med Biol (2014) 0.89
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics (2013) 0.89
Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol (2011) 0.88
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics (2008) 0.88
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia (2008) 0.87
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. PLoS Genet (2016) 0.86
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. PLoS One (2011) 0.86
Cortical malformations: unfolding polymicrogyria. Nat Rev Neurol (2010) 0.85
Cerebral cortex expansion and folding: what have we learned? EMBO J (2016) 0.81
GRIN2A: an aptly named gene for speech dysfunction. Neurology (2015) 0.81
Imaging and genetics of language and cognition in pediatric epilepsy. Epilepsy Behav (2012) 0.81
Diversifying microtubules in brain development. Nat Genet (2009) 0.80
Insights into the Neural and Genetic Basis of Vocal Communication. Cell (2016) 0.79
Animal Models of Speech and Vocal Communication Deficits Associated With Psychiatric Disorders. Biol Psychiatry (2015) 0.79
Seizures and X-linked intellectual disability. Eur J Med Genet (2012) 0.79
A widespread peroxiredoxin-like domain present in tumor suppression- and progression-implicated proteins. BMC Genomics (2010) 0.79
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures. PLoS One (2010) 0.78
Genes and brain malformations associated with abnormal neuron positioning. Mol Brain (2015) 0.78
Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication. Genome Med (2016) 0.78
Recent Advances in the Genetics of Vocal Learning. Comp Cogn Behav Rev (2015) 0.78
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. PLoS One (2014) 0.77
Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior. Genet Res Int (2014) 0.77
Decoding the molecular evolution of human cognition using comparative genomics. Brain Behav Evol (2014) 0.77
Identification of steroid-sensitive gene-1/Ccdc80 as a JAK2-binding protein. Mol Endocrinol (2013) 0.76
SRPX2 promotes cell migration and invasion via FAK dependent pathway in pancreatic cancer. Int J Clin Exp Pathol (2015) 0.76
Nitric oxide signaling in the development and evolution of language and cognitive circuits. Neurosci Res (2014) 0.76
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. Epilepsy Behav Case Rep (2016) 0.75
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol (2016) 0.75
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment. Sci Rep (2017) 0.75
Cortical dysplasia: a possible substrate for brain tumors. Future Oncol (2012) 0.75
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies. Neurol Genet (2017) 0.75
From where to what: a neuroanatomically based evolutionary model of the emergence of speech in humans. F1000Res (2015) 0.75
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit. Front Cell Neurosci (2017) 0.75
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
International network of cancer genome projects. Nature (2010) 20.35
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
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature (2008) 16.10
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med (2009) 8.73
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet (2007) 8.63
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Intra- and interspecific variation in primate gene expression patterns. Science (2002) 7.92
Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet (2009) 7.62
Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23
ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88
Lung cancer susceptibility locus at 5p15.33. Nat Genet (2008) 5.99
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
Pure retrograde amnesia following a mild head trauma: a neuropsychological and metabolic study. Cortex (2002) 4.75
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61
Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet (2003) 4.01
New concepts in classification of the epilepsies: entering the 21st century. Epilepsia (2011) 3.99
Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med (2008) 3.90
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
The clock gene Per2 influences the glutamatergic system and modulates alcohol consumption. Nat Med (2004) 3.63
Broad expression of Toll-like receptors in the human central nervous system. J Neuropathol Exp Neurol (2002) 3.53
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med (2008) 3.34
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet (2010) 3.22
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
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Family-based designs for genome-wide association studies. Nat Rev Genet (2011) 3.12
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci U S A (2007) 3.10
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst (2011) 3.05
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet (2010) 2.96
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93
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
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate. Genome Res (2008) 2.70
Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'. Int J Epidemiol (2006) 2.68
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood (2009) 2.64
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Cannabis-related stroke: myth or reality? Stroke (2012) 2.55
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab (2008) 2.53
Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet (2010) 2.51
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
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
Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet (2009) 2.44
Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43
Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. Am J Psychiatry (2010) 2.41
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet (2013) 2.40
Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype. Lancet (2003) 2.40
Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol (2008) 2.39
SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
Defects in IGF-1 receptor, insulin receptor and IRS-1/2 in Alzheimer's disease indicate possible resistance to IGF-1 and insulin signalling. Neurobiol Aging (2010) 2.32