| # | Title | Journal | Year | Citations |
|---|
| 1 | A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study | BMC Medical Genetics | 2007 | 289 |
| 2 | An Open Access Database of Genome-wide Association Results | BMC Medical Genetics | 2009 | 276 |
| 3 | Association of HLA class I with severe acute respiratory syndrome coronavirus infection | BMC Medical Genetics | 2003 | 264 |
| 4 | Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness | BMC Medical Genetics | 2007 | 248 |
| 5 | Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTOvariants confer a significant risk | BMC Medical Genetics | 2008 | 235 |
| 6 | Genome-wide association with bone mass and geometry in the Framingham Heart Study | BMC Medical Genetics | 2007 | 232 |
| 7 | Theories of schizophrenia: a genetic-inflammatory-vascular synthesis | BMC Medical Genetics | 2005 | 231 |
| 8 | Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability | BMC Medical Genetics | 2006 | 227 |
| 9 | Association between TCF7L2gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis | BMC Medical Genetics | 2009 | 213 |
| 10 | Genome-wide association of sleep and circadian phenotypes | BMC Medical Genetics | 2007 | 212 |
| 11 | Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study | BMC Medical Genetics | 2007 | 179 |
| 12 | Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder | BMC Medical Genetics | 2005 | 175 |
| 13 | Copy number variation is highly correlated with differential gene expression: a pan-cancer study | BMC Medical Genetics | 2019 | 174 |
| 14 | Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study | BMC Medical Genetics | 2007 | 171 |
| 15 | Association of HLA-B*5801 allele and allopurinol-induced stevens johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis | BMC Medical Genetics | 2011 | 170 |
| 16 | The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports | BMC Medical Genetics | 2007 | 169 |
| 17 | The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency | BMC Medical Genetics | 2005 | 164 |
| 18 | Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes | BMC Medical Genetics | 2007 | 155 |
| 19 | 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects | BMC Medical Genetics | 2009 | 155 |
| 20 | Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project | BMC Medical Genetics | 2007 | 154 |
| 21 | Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population | BMC Medical Genetics | 2011 | 149 |
| 22 | New adipokines vaspin and omentin. Circulating levels and gene expression in adipose tissue from morbidly obese women | BMC Medical Genetics | 2011 | 144 |
| 23 | Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease | BMC Medical Genetics | 2010 | 140 |
| 24 | The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency | BMC Medical Genetics | 2008 | 137 |
| 25 | The role of the fat mass and obesity associated gene (FTO) in breast cancer risk | BMC Medical Genetics | 2011 | 132 |
| 26 | Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles | BMC Medical Genetics | 2011 | 131 |
| 27 | Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates | BMC Medical Genetics | 2005 | 130 |
| 28 | Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study | BMC Medical Genetics | 2007 | 130 |
| 29 | Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease | BMC Medical Genetics | 2015 | 128 |
| 30 | Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus | BMC Medical Genetics | 2008 | 127 |
| 31 | Genetic studies of the Roma (Gypsies): a review | BMC Medical Genetics | 2001 | 126 |
| 32 | Association of ADIPOQ gene variants with body weight, type 2 diabetes and serum adiponectin concentrations: the Finnish Diabetes Prevention Study | BMC Medical Genetics | 2011 | 124 |
| 33 | Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles | BMC Medical Genetics | 2009 | 118 |
| 34 | The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies | BMC Medical Genetics | 2008 | 117 |
| 35 | Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma | BMC Medical Genetics | 2006 | 112 |
| 36 | Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets | BMC Medical Genetics | 2007 | 112 |
| 37 | Genome-wide association with select biomarker traits in the Framingham Heart Study | BMC Medical Genetics | 2007 | 111 |
| 38 | The quantification of COMT mRNA in post mortem cerebellum tissue: diagnosis, genotype, methylation and expression | BMC Medical Genetics | 2006 | 110 |
| 39 | Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in Type 2 Diabetes in a Chinese population | BMC Medical Genetics | 2010 | 110 |
| 40 | Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 | BMC Medical Genetics | 2011 | 109 |
| 41 | Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients | BMC Medical Genetics | 2002 | 108 |
| 42 | Framingham Heart Study genome-wide association: results for pulmonary function measures | BMC Medical Genetics | 2007 | 108 |
| 43 | A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study | BMC Medical Genetics | 2007 | 107 |
| 44 | Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes | BMC Medical Genetics | 2010 | 107 |
| 45 | Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits | BMC Medical Genetics | 2011 | 107 |
| 46 | Frequency of CHEK2*1100delC in New York breast cancer cases and controls | BMC Medical Genetics | 2003 | 106 |
| 47 | Mechanisms of ring chromosome formation, ring instability and clinical consequences | BMC Medical Genetics | 2011 | 106 |
| 48 | Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1 | BMC Medical Genetics | 2014 | 106 |
| 49 | DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity | BMC Medical Genetics | 2008 | 105 |
| 50 | The role of CACNA1Sin predisposition to malignant hyperthermia | BMC Medical Genetics | 2009 | 104 |
