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	1. 1335 Accesses	Research article Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads Solveig Myking, Ronny Myhre, Håkon K Gjessing, Nils-Halvdan Morken, Verena Sengpiel, Scott M Williams, Kelli K Ryckman, Per Magnus, Bo Jacobsson BMC Medical Genetics 2011, 12:174 (30 December 2011) Abstract \| Full text \| PDF \| PubMed
	2. 1314 Accesses	Research article Eight previously unidentified mutations found in the OA1 ocular albinism gene Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan, Jean-Louis Dufier, Cécile Marsac, Maurice Menasche, Marc Abitbol BMC Medical Genetics 2006, 7:41 (28 April 2006) Abstract \| Full text \| PDF \| PubMed
	3. 597 Accesses	Research article Genome Wide Association Study to predict severe asthma exacerbations in children using random forests classifiers Mousheng Xu, Kelan G Tantisira, Ann Wu, Augusto A Litonjua, Jen-hwa Chu, Blanca E Himes, Amy Damask, Scott T Weiss BMC Medical Genetics 2011, 12:90 (30 June 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	4. 562 Accesses	Review Genetic studies of the Roma (Gypsies): a review Luba Kalaydjieva, David Gresham, Francesc Calafell BMC Medical Genetics 2001, 2:5 (2 April 2001) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	5. 485 Accesses	Case report The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante BMC Medical Genetics 2013, 14:50 (7 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	6. 453 Accesses	Research article Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb, Ghada A Ebrahim BMC Medical Genetics 2013, 14:90 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	7. 403 Accesses	Research article Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease Matthew T Bishop, Pascual Sanchez-Juan, Richard SG Knight BMC Medical Genetics 2013, 14:91 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	8. 376 Accesses	Research article Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Koo BMC Medical Genetics 2013, 14:72 (17 July 2013) Abstract \| Full text \| PDF \| PubMed
	9. 374 Accesses	Research article ITGB5 and AGFG1 variants are associated with severity of airway responsiveness Blanca E Himes, Weiliang Qiu, Barbara Klanderman, John Ziniti, Jody Senter-Sylvia, Stanley J Szefler, Robert F Lemanske, Jr, Robert S Zeiger, Robert C Strunk, Fernando D Martinez, Homer Boushey, Vernon M Chinchilli, Elliot Israel, David Mauger, Gerard H Koppelman, Maartje AE Nieuwenhuis, Dirkje S Postma, Judith M Vonk, Nicholas Rafaels, Nadia N Hansel, Kathleen Barnes, Benjamin Raby, Kelan G Tantisira, Scott T Weiss BMC Medical Genetics 2013, 14:86 (28 August 2013) Abstract \| Full text \| PDF \| PubMed
	10. 371 Accesses	Research article Genetic variants associated with breast size also influence breast cancer risk Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung BMC Medical Genetics 2012, 13:53 (30 June 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary A genomewide association study reveals seven single-nucleotide polymorphisms associated with differences in womens` breast size during normal development, of which two have been previously linked with the risk of breast cancer.
	11. 355 Accesses	Research article Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene Rowena J Keyser, Lize van der Merwe, Mauritz Venter, Craig Kinnear, Louise Warnich, Jonathan Carr, Soraya Bardien BMC Medical Genetics 2009, 10:105 (13 October 2009) Abstract \| Full text \| PDF \| PubMed
	12. 346 Accesses	Correspondence Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, Karin Buiting BMC Medical Genetics 2010, 11:70 (11 May 2010) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary A new consensus on testing and reporting guidelines for diagnosing the neurodevelopmental genetic disorders Prader-Willi syndrome (PWS) and Angelman syndrome (AS) has been established via analysis of the methylation patterns on chromosome 15.
	13. 340 Accesses	Research article DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang, Richard L Prince BMC Medical Genetics 2013, 14:87 (30 August 2013) Abstract \| Full text \| PDF \| ePUB
	14. 324 Accesses	Research article Associations between serotonin transporter gene polymorphisms and heat pain perception in adults with chronic pain W Hooten, William R Hartman, John Black, Heidi J Laures, Denise L Walker BMC Medical Genetics 2013, 14:78 (30 July 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed \| Editor’s summary Intermediate expression of the triallelic serotonin transporter gene-linked polymorphic region (5-HTTLPR) is associated with heat pain perception threshold in adults suffering chronic pain.
	15. 308 Accesses	Case report Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter BMC Medical Genetics 2013, 14:92 (16 September 2013) Abstract \| Full text \| PDF \| PubMed
	16. 304 Accesses	Research article Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz BMC Medical Genetics 2013, 14:85 (21 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	17. 294 Accesses	Research article An Open Access Database of Genome-wide Association Results Andrew D Johnson, Christopher J O'Donnell BMC Medical Genetics 2009, 10:6 (22 January 2009) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary A new centralized open access database containing the results of 118 genome-wide association (GWA) studies shows considerable heterogeneity in the data and provides a potential resource for result sharing between a wide community of researchers.
	18. 294 Accesses	Debate Theories of schizophrenia: a genetic-inflammatory-vascular synthesis Daniel R Hanson, Irving I Gottesman BMC Medical Genetics 2005, 6:7 (11 February 2005) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Molecular genetic analysis suggests an inflammatory component to schizophrenia aetiology and presents a possible explanation for the variety of symptoms associated with the illness
	19. 291 Accesses	Case report Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora BMC Medical Genetics 2013, 14:89 (11 September 2013) Abstract \| Full text \| PDF \| PubMed
	20. 270 Accesses	Research article Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study Jinsil Kim, Kara J Stirling, Margaret E Cooper, Mario Ascoli, Allison M Momany, Erin L McDonald, Kelli K Ryckman, Lindsey Rhea, Kendra L Schaa, Viviana Cosentino, Enrique Gadow, Cesar Saleme, Min Shi, Mikko Hallman, Jevon Plunkett, Kari A Teramo, Louis J Muglia, Bjarke Feenstra, Frank Geller, Heather A Boyd, Mads Melbye, Mary L Marazita, John M Dagle, Jeffrey C Murray BMC Medical Genetics 2013, 14:77 (26 July 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	21. 263 Accesses	Research article DNA methylation of the glucagon-like peptide 1 receptor (GLP1R) in human pancreatic islets Elin Hall, Tasnim Dayeh, Clare L Kirkpatrick, Claes B Wollheim, Marloes Dekker Nitert, Charlotte Ling BMC Medical Genetics 2013, 14:76 (23 July 2013) Abstract \| Full text \| PDF \| PubMed
	22. 263 Accesses	Technical advance Development and validation of a multiplex-PCR assay for X-linked intellectual disability Paula Jorge, Bárbara Oliveira, Isabel Marques, Rosário Santos BMC Medical Genetics 2013, 14:80 (5 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	23. 249 Accesses	Research article The promoter of miR-663 is hypermethylated in Chinese pediatric acute myeloid leukemia (AML) Tao Yan-Fang, Ni Jian, Lu Jun, Wang Na, Xiao Pei-Fang, Zhao Wen-Li, Wu Dong, Pang Li, Wang Jian, Feng Xing, Pan Jian BMC Medical Genetics 2013, 14:74 (19 July 2013) Abstract \| Full text \| PDF \| PubMed
	24. 249 Accesses	Research article Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Lewis, Penelope E Bonnen BMC Medical Genetics 2013, 14:83 (16 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	25. 256 Accesses	Research article Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva, João Antonio Pêgas Henriques BMC Medical Genetics 2013, 14:93 (20 September 2013) Abstract \| Full text \| PDF \| PubMed