Published in Hum Genet on January 17, 2009
Molecular genetics of migraine. Hum Genet (2009) 1.91
Identification of molecular genetic factors that influence migraine. Mol Genet Genomics (2011) 1.04
Studies on the pathophysiology and genetic basis of migraine. Curr Genomics (2013) 0.94
Dopamine transporter gene may be associated with bipolar disorder and its personality traits. Eur Arch Psychiatry Clin Neurosci (2014) 0.93
Dopaminergic symptoms in migraine. Neurol Sci (2013) 0.86
Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the BioBIM rs4818 and rs4680 polymorphisms study. J Headache Pain (2015) 0.85
Genetics and Gene Expression Involving Stress and Distress Pathways in Fibromyalgia with and without Comorbid Chronic Fatigue Syndrome. Pain Res Treat (2011) 0.84
Assessment between Dopamine Receptor D2 (DRD2) Polymorphisms and Schizophrenia in Korean Population. Clin Psychopharmacol Neurosci (2012) 0.83
Two-stage case-control association study of dopamine-related genes and migraine. BMC Med Genet (2009) 0.83
Variants in the human potassium channel gene (KCNN3) are associated with migraine in a high risk genetic isolate. J Headache Pain (2011) 0.77
Genetic biomarkers of depression. Indian J Hum Genet (2012) 0.77
Association Between Polymorphisms of DRD2, COMT, DBH, and MAO-A Genes and Migraine Susceptibility: A Meta-Analysis. Medicine (Baltimore) (2015) 0.75
Treatment of bipolar disorder with comorbid migraine. J Psychiatry Neurosci (2010) 0.75
Case-control study of ADARB1 and ADARB2 gene variants in migraine. J Headache Pain (2015) 0.75
Migraine genetics: current findings and future lines of research. Neurogenetics (2014) 0.75
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes. Hum Genomics (2016) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
A haplotype map of the human genome. Nature (2005) 105.70
Genomic control for association studies. Biometrics (1999) 64.39
The International Classification of Headache Disorders: 2nd edition. Cephalalgia (2004) 49.94
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics (2003) 17.92
Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol (2003) 8.65
Practical issues in imputation-based association mapping. PLoS Genet (2008) 6.76
Evaluating associations of haplotypes with traits. Genet Epidemiol (2004) 5.70
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Using haplotype blocks to map human complex trait loci. Trends Genet (2003) 4.61
The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression. Pharmacogenomics J (2001) 2.05
Increased familial risk and evidence of genetic factor in migraine. BMJ (1995) 1.96
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet B Neuropsychiatr Genet (2003) 1.95
A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet (2001) 1.80
Clinical susceptibility to migraine with aura is modified by dopamine D2 receptor (DRD2) NcoI alleles. Neurology (1997) 1.75
Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies. Genome Res (2004) 1.74
Dopamine and migraine. Neurology (1997) 1.70
A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet (1997) 1.68
Polymorphisms in the 3'-untranslated region of human and monkey dopamine transporter genes affect reporter gene expression. Mol Psychiatry (2002) 1.39
Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene. Genomics (2003) 1.34
The dopamine transporter gene (SLC6A3) variable number of tandem repeats domain enhances transcription in dopamine neurons. J Neurochem (2001) 1.27
Transient expression analysis of allelic variants of a VNTR in the dopamine transporter gene (DAT1). BMC Genet (2005) 1.08
Comorbid migraine with aura, anxiety, and depression is associated with dopamine D2 receptor (DRD2) NcoI alleles. Mol Med (1998) 1.05
Functional polymorphisms in dopamine and serotonin pathway genes. Hum Mutat (2006) 1.02
A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse. Eur J Neurol (2006) 1.02
Association between dopamine receptor genes and migraine without aura in a Sardinian sample. Neurology (1998) 1.01
Dopamine and migraine: biology and clinical implications. Cephalalgia (2007) 1.01
Evidence for allelic association of the dopamine beta-hydroxylase gene (DBH) with susceptibility to typical migraine. Neurogenetics (2000) 1.00
Significant linkage to migraine with aura on chromosome 11q24. Hum Mol Genet (2003) 0.96
Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)n repeat at its gene locus in healthy individuals. Hum Genet (1997) 0.95
Dopamine, the second putative protagonist in headache. Headache (1977) 0.91
Linkage disequilibrium between STRPs and SNPs across the human genome. Am J Hum Genet (2008) 0.91
A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes. Neurol Sci (2003) 0.88
A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus. Hum Mol Genet (1992) 0.88
Association between a 19 bp deletion polymorphism at the dopamine beta-hydroxylase (DBH) locus and migraine with aura. J Neurol Sci (2006) 0.86
Haplotype-based systematic association studies of ATP1A2 in migraine with aura. Am J Med Genet B Neuropsychiatr Genet (2006) 0.85
Dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase (DBH) locus. Nucleic Acids Res (1992) 0.84
Dopamine receptor genes and migraine with and without aura: an association study. Headache (2002) 0.81
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Am J Med Genet B Neuropsychiatr Genet (2008) 0.80
The D2 receptor NcoI allele: absence of allelic association with migraine with aura. Neurology (1998) 0.79
Association study between clinical response to rizatriptan and some candidate genes. J Headache Pain (2007) 0.79
The -141C Ins/Del polymorphism of the dopamine D2 receptor gene is not associated with either migraine or Parkinson's disease. Psychiatr Genet (2001) 0.79
Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura. Neurology (2006) 0.79
Association study of a functional variant in intron 8 of the dopamine transporter gene and migraine susceptibility. Eur J Neurol (2007) 0.79
A dopamine D4 receptor exon 3 VNTR allele protecting against migraine without aura. Ann Neurol (2007) 0.78
Lack of interaction between a polymorphism in the dopamine D2 receptor gene and the clinical features of migraine. Cephalalgia (2004) 0.78
Family-based association analysis of functional VNTR polymorphisms in the dopamine transporter gene in migraine with and without aura. J Neural Transm (Vienna) (2007) 0.77
Association study between the phenotype migraine without aura-panic disorder and dopaminergic receptor genes. Pharmacol Res (2003) 0.77
Replication study of the insulin receptor gene in migraine with aura. Genomics (2008) 0.76
Dopaminergic hypersensitivity in migraine: clinical and genetic evidence. Funct Neurol (2000) 0.75
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet (2012) 5.11
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation (2003) 2.12
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature (2010) 2.10
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med (2009) 2.08
Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis. Electrophoresis (2002) 2.07
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet (2008) 2.02
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci (2010) 2.00
Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet (2011) 1.98
Demographic history of Oceania inferred from genome-wide data. Curr Biol (2010) 1.93
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet (2008) 1.93
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation (2005) 1.87
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain (2010) 1.76
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68
Genomewide linkage analysis identifies novel genetic Loci for lung function in mice. Am J Respir Crit Care Med (2005) 1.67
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
Benchmarking of mutation diagnostics in clinical lung cancer specimens. PLoS One (2011) 1.65
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
A longitudinal analysis of reproductive skew in male rhesus macaques. Proc Biol Sci (2004) 1.64
Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation (2007) 1.57
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet (2012) 1.57
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet (2007) 1.52
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet (2010) 1.50
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet (2009) 1.50
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12. Am J Hum Genet (2012) 1.46
Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis. Gastroenterology (2006) 1.46
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet (2012) 1.46
Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis (2005) 1.45
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat (2010) 1.43
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet (2013) 1.43
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet (2012) 1.43
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat (2005) 1.42
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40