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Genomic epidemiology

This section considers studies of the association of variations in the human genome with human health and disease, their prevalence within populations and their interactions with environmental factors.

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  1. Content type: Case report

    The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences res...

    Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge and Olga Haus

    Citation: BMC Medical Genomics 2019 12:85

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  2. Content type: Research article

    Genetic diversity is greatest within Africa, in particular the KhoeSan click-speaking peoples of southern Africa. South African populations represent admixture fractions including differing degrees of African,...

    Authors: Desiree C. Petersen, Weerachai Jaratlerdsiri, Abraham van Wyk, Eva K. F. Chan, Pedro Fernandez, Ruth J. Lyons, Shingai B. A. Mutambirw, Andre van der Merwe, Philip A. Venter, William Bates, M. S. Riana Bornman and Vanessa M. Hayes

    Citation: BMC Medical Genomics 2019 12:82

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  3. Content type: Research article

    Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing lo...

    Authors: Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou and Zhiyu Peng

    Citation: BMC Medical Genomics 2019 12:76

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  4. Content type: Research article

    Genomic services are increasingly accessible to young adults starting their independent lives with responsibility for their self-care, yet their attitudes to sharing genomic information remain under-researched...

    Authors: Pepita Barnard, Sarah Sharples, Brian J. Thomson and Jonathan M. Garibaldi

    Citation: BMC Medical Genomics 2019 12:55

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  5. Content type: Research article

    Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although di...

    Authors: Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras and Georges Nemer

    Citation: BMC Medical Genomics 2019 12:33

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  6. Content type: Research article

    Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic...

    Authors: Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang and Xiaowei Chen

    Citation: BMC Medical Genomics 2019 12:28

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  7. Content type: Research article

    The etiology and mechanism of spontaneous preterm birth (sPTB) are still unclear. Accumulating evidence has documented that various environmental exposure scenarios may cause maternal and fetal epigenetic chan...

    Authors: Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu and Wei-Qing Chen

    Citation: BMC Medical Genomics 2019 12:1

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  8. Content type: Research article

    Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA...

    Authors: Sophia R. Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M. Evans and Stephen P. Robertson

    Citation: BMC Medical Genomics 2018 11:121

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  9. Content type: Research article

    Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and ch...

    Authors: Panagiota Kontou, Athanasia Pavlopoulou, Georgia Braliou, Spyridoula Bogiatzi, Niki Dimou, Sripal Bangalore and Pantelis Bagos

    Citation: BMC Medical Genomics 2018 11:109

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  13. Content type: Research article

    Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common f...

    Authors: Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel and Sally J. Dawson

    Citation: BMC Medical Genomics 2018 11:77

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  14. Content type: Research article

    Gestational diabetes (GDM) is a more common problem in India than in many other parts of the world but it is not known whether this is due to unique environmental factors or a unique genetic background. To add...

    Authors: Geeti P. Arora, Peter Almgren, Charlotte Brøns, Richa G. Thaman, Allan A. Vaag, Leif Groop and Rashmi B. Prasad

    Citation: BMC Medical Genomics 2018 11:64

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  15. Content type: Research article

    Recently, 34 genes had been associated with differential expression relative to blood pressure (BP)/ hypertension (HTN). We hypothesize that some of the genes associated with BP/HTN are also associated with BP...

    Authors: Ana Caroline C. Sá, Amy Webb, Yan Gong, Caitrin W. McDonough, Mohamed H. Shahin, Somnath Datta, Taimour Y. Langaee, Stephen T. Turner, Amber L. Beitelshees, Arlene B. Chapman, Eric Boerwinkle, John G. Gums, Steven E. Scherer, Rhonda M. Cooper-DeHoff, Wolfgang Sadee and Julie A. Johnson

    Citation: BMC Medical Genomics 2018 11:55

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  17. Content type: Research article

    Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier te...

    Authors: Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang…

    Citation: BMC Medical Genomics 2018 11:49

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  18. Content type: Research article

    Genetic variations in apolipoprotein E (APOE) and proximal genes (PVRL2, TOMM40, and APOC1) are associated with cognitive function and dementia, particularly Alzheimer’s disease. Epigenetic mechanisms such as DNA...

    Authors: Jiaxuan Liu, Wei Zhao, Erin B. Ware, Stephen T. Turner, Thomas H. Mosley and Jennifer A. Smith

    Citation: BMC Medical Genomics 2018 11:43

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  19. Content type: Research article

    Parkinson’s disease (PD) is a long-term degenerative disease that is caused by environmental and genetic factors. The networks of genes and their regulators that control the progression and development of PD r...

    Authors: Lining Su, Chunjie Wang, Chenqing Zheng, Huiping Wei and Xiaoqing Song

    Citation: BMC Medical Genomics 2018 11:40

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  20. Content type: Research article

    Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...

    Authors: Claudia Tamar Silva, Irina V. Zorkoltseva, Maartje N. Niemeijer, Marten E. van den Berg, Najaf Amin, Ayşe Demirkan, Elisa van Leeuwen, Adriana I. Iglesias, Laura B. Piñeros-Hernández, Carlos M. Restrepo, Jan A. Kors, Anatoly V. Kirichenko, Rob Willemsen, Ben A. Oostra, Bruno H. Stricker, André G. Uitterlinden…

    Citation: BMC Medical Genomics 2018 11:22

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  21. Content type: Research article

    This article investigates the genomic knowledge of oncology care physicians in the adoption of clinical genomics. We apply Rogers’ knowledge framework from his diffusion of innovation theory to identify three ...

    Authors: Vu T. Dung Ha, Julie Frizzo-Barker and Peter Chow-White

    Citation: BMC Medical Genomics 2018 11:18

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  22. Content type: Research article

    To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, “Practical Analysis of Yo...

    Authors: Michael D. Linderman, Saskia C. Sanderson, Ali Bashir, George A. Diaz, Andrew Kasarskis, Randi Zinberg, Milind Mahajan, Sabrina A. Suckiel, Micol Zweig and Eric E. Schadt

    Citation: BMC Medical Genomics 2018 11:5

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  23. Content type: Research article

    Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with rel...

    Authors: Liesl M. Hendry, Venesa Sahibdeen, Ananyo Choudhury, Shane A. Norris, Michèle Ramsay and Zané Lombard

    Citation: BMC Medical Genomics 2018 11:2

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  24. Content type: Research article

    Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS...

    Authors: Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu and Yongguo Yu

    Citation: BMC Medical Genomics 2017 10:62

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  25. Content type: Research article

    Cigarette smoking is the leading modifiable risk factor for disease and death worldwide. Previous studies quantifying gene-level expression have documented the effect of smoking on mRNA levels. Using RNA seque...

    Authors: Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh and Peter J. Castaldi

    Citation: BMC Medical Genomics 2017 10:58

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  27. Content type: Research article

    The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT...

    Authors: Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J. Scott Roberts and Robert C. Green

    Citation: BMC Medical Genomics 2017 10:24

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  28. Content type: Research article

    Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic st...

    Authors: John K. L. Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara S. M. Tang, Patrick H. Y. Chung, Ngoc Son Tran, Man-ting So, Stacey S. Cherny, Pak C. Sham, Paul K. Tam and Maria-Mercè Garcia-Barcelo

    Citation: BMC Medical Genomics 2016 9:75

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  29. Content type: Research article

    Oxidative stress has been related to type 2 diabetes (T2D) and cardiovascular disease (CVD), the leading global cause of death. Contributions of environmental factors such as oxidative stress on complex traits...

    Authors: Åsa K. Hedman, Mihkel Zilmer, Johan Sundström, Lars Lind and Erik Ingelsson

    Citation: BMC Medical Genomics 2016 9:72

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  30. Content type: Research article

    DNA methylation levels will be important for detection of epigenetic effects. However, there are few reports showing sex-related differences in the sensitivity to DNA methylation. To evaluate their sex-related...

    Authors: Mikio Watanabe, Chika Honda, Yoshinori Iwatani, Shiro Yorifuji, Hiroyasu Iso, Kei Kamide, Jun Hatazawa, Shinji Kihara, Norio Sakai, Hiroko Watanabe, Kiyoko Makimoto, Mikio Watanabe, Chika Honda and Yoshinori Iwatani

    Citation: BMC Medical Genomics 2016 9:55

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  31. Content type: Research article

    Based on age of presentation, celiac disease (CD) is categorised as pediatric CD and adult CD. It however remains unclear if these are genetically and/or phenotypically distinct disorders or just different spe...

    Authors: Sabyasachi Senapati, Ajit Sood, Vandana Midha, Neena Sood, Suresh Sharma, Lalit Kumar and B. K. Thelma

    Citation: BMC Medical Genomics 2016 9:44

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  32. Content type: Research article

    Neurodevelopment is orchestrated by a wide range of genes, and the genetic causes of neurodevelopmental disorders are thus heterogeneous. We applied whole exome sequencing (WES) for molecular diagnosis and in sil...

    Authors: Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, Tomasz Gambin, Mehmed M. Atik, Shen Gu, Jennifer E. Posey, Shalini N. Jhangiani, Donna M. Muzny, Harsha Doddapaneni, Jianhong Hu, Eric Boerwinkle, Richard A. Gibbs, Jill A. Rosenfeld, Hong Cui, Fan Xia…

    Citation: BMC Medical Genomics 2016 9:42

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  33. Content type: Research article

    Genetic screening to identify carriers of autosomal recessive diseases has become an integral part of routine prenatal care. In spite of the rapid growth of known mutations, most current screening programs inc...

    Authors: Moran Gal, Khen Khermesh, Michal Barak, Min Lin, Hadas Lahat, Haike Reznik Wolf, Michael Lin, Elon Pras and Erez Y. Levanon

    Citation: BMC Medical Genomics 2016 9:24

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  35. Content type: Research article

    MicroRNAs (miRNAs) have been implicated in the incidence and progression of cancer. It has been proposed that single nucleotide polymorphisms (SNPs) influence cancer risk due to their position within genes inv...

    Authors: Lila E. Mullany, Jennifer S. Herrick, Roger K. Wolff, Matthew F. Buas and Martha L. Slattery

    Citation: BMC Medical Genomics 2016 9:21

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  36. Content type: Research article

    Recent genome-wide association studies (GWAS) have shown that single nucleotide polymorphisms (SNPs) in the Chr9p21 region are associated with coronary artery disease (CAD). Most of the SNPs identified in this...

    Authors: Wei Zhao, Jennifer A Smith, Guangmei Mao, Myriam Fornage, Patricia A Peyser, Yan V Sun, Stephen T Turner and Sharon LR Kardia

    Citation: BMC Medical Genomics 2015 8:21

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  37. Content type: Research article

    Given the growing use of whole-exome sequencing (WES) for clinical diagnostics of complex human disorders, we evaluated coverage of clinically relevant cardiac genes on WES and factors influencing uniformity a...

    Authors: Dorin Manase, Lisa CA D’Alessandro, Ashok Kumar Manickaraj, Saeed Al Turki, Matthew E Hurles and Seema Mital

    Citation: BMC Medical Genomics 2014 7:67

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  38. Content type: Research article

    Bicuspid aortic valve (BAV) is the most common type of congenital heart disease with a population prevalence of 1-2%. While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1

    Authors: Elizabeth M Bonachea, Gloria Zender, Peter White, Don Corsmeier, David Newsom, Sara Fitzgerald-Butt, Vidu Garg and Kim L McBride

    Citation: BMC Medical Genomics 2014 7:56

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  39. Content type: Research article

    Allergic rhinitis is a common disease whose genetic basis is incompletely explained. We report an integrated genomic analysis of allergic rhinitis.

    Authors: Supinda Bunyavanich, Eric E Schadt, Blanca E Himes, Jessica Lasky-Su, Weiliang Qiu, Ross Lazarus, John P Ziniti, Ariella Cohain, Michael Linderman, Dara G Torgerson, Celeste S Eng, Maria Pino-Yanes, Badri Padhukasahasram, James J Yang, Rasika A Mathias, Terri H Beaty…

    Citation: BMC Medical Genomics 2014 7:48

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  40. Content type: Research article

    Genome-wide interrogation of DNA methylation (DNAm) in blood-derived leukocytes has become feasible with the advent of CpG genotyping arrays. In epithelial ovarian cancer (EOC), one report found substantial DN...

    Authors: Brooke L Fridley, Sebastian M Armasu, Mine S Cicek, Melissa C Larson, Chen Wang, Stacey J Winham, Kimberly R Kalli, Devin C Koestler, David N Rider, Viji Shridhar, Janet E Olson, Julie M Cunningham and Ellen L Goode

    Citation: BMC Medical Genomics 2014 7:21

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  41. Content type: Research article

    GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hy...

    Authors: Isabel De Castro-Orós, Javier Pérez-López, Rocio Mateo-Gallego, Soraya Rebollar, Marta Ledesma, Montserrat León, Montserrat Cofán, Jose A Casasnovas, Emilio Ros, Jose C Rodríguez-Rey, Fernando Civeira and Miguel Pocoví

    Citation: BMC Medical Genomics 2014 7:17

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  42. Content type: Research article

    The purpose of this manuscript is to describe the PhenX RISING network and the site experiences in the implementation of PhenX measures into ongoing population-based genomic studies.

    Authors: Catherine A McCarty, Wayne Huggins, Allison E Aiello, Robert M Bilder, Ahmad Hariri, Terry L Jernigan, Erik Newman, Dharambir K Sanghera, Timothy J Strauman, Yi Zeng, Erin M Ramos and Heather A Junkins

    Citation: BMC Medical Genomics 2014 7:16

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  43. Content type: Research article

    Childhood abuse is associated with increased adult disease risk, suggesting that processes acting over the long-term, such as epigenetic regulation of gene activity, may be involved. DNA methylation is a criti...

    Authors: Matthew Suderman, Nada Borghol, Jane J Pappas, Snehal M Pinto Pereira, Marcus Pembrey, Clyde Hertzman, Chris Power and Moshe Szyf

    Citation: BMC Medical Genomics 2014 7:13

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  44. Content type: Research article

    Variable responses to the Hepatitis B Virus (HBV) vaccine have recently been reported as strongly dependent on genetic causes. Yet, the details on such mechanisms of action are still unknown. In parallel, alte...

    Authors: Youtao Lu, Yi Cheng, Weili Yan and Christine Nardini

    Citation: BMC Medical Genomics 2014 7:12

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  45. Content type: Research article

    Uric acid (UA) is a complex phenotype influenced by both genetic and environmental factors as well as their interactions. Current genome-wide association studies (GWASs) have identified a variety of genetic de...

    Authors: Binyao Yang, Zengnan Mo, Chen Wu, Handong Yang, Xiaobo Yang, Yunfeng He, Lixuan Gui, Li Zhou, Huan Guo, Xiaomin Zhang, Jing Yuan, Xiayun Dai, Jun Li, Gaokun Qiu, Suli Huang, Qifei Deng…

    Citation: BMC Medical Genomics 2014 7:10

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  46. Content type: Research article

    Both genetic and epigenetic factors influence the development and progression of epithelial ovarian cancer (EOC). However, there is an incomplete understanding of the interrelationship between these factors an...

    Authors: Devin C Koestler, Prabhakar Chalise, Mine S Cicek, Julie M Cunningham, Sebastian Armasu, Melissa C Larson, Jeremy Chien, Matthew Block, Kimberly R Kalli, Thomas A Sellers, Brooke L Fridley and Ellen L Goode

    Citation: BMC Medical Genomics 2014 7:8

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  47. Content type: Research article

    The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort.

    Authors: Catherine A McCarty, Richard Berg, Carla M Rottscheit, Carol J Waudby, Terrie Kitchner, Murray Brilliant and Marylyn D Ritchie

    Citation: BMC Medical Genomics 2014 7:3

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  48. Content type: Research article

    Non-small cell lung cancer (NSCLC), a leading cause of cancer deaths, represents a heterogeneous group of neoplasms, mostly comprising squamous cell carcinoma (SCC), adenocarcinoma (AC) and large-cell carcinom...

    Authors: Vladimir Lazar, Chen Suo, Cedric Orear, Joost van den Oord, Zsofia Balogh, Justine Guegan, Bastien Job, Guillaume Meurice, Hugues Ripoche, Stefano Calza, Johanna Hasmats, Joakim Lundeberg, Ludovic Lacroix, Philippe Vielh, Fabienne Dufour, Janne Lehtiö…

    Citation: BMC Medical Genomics 2013 6:53

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  49. Content type: Research article

    Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approa...

    Authors: Tú Nguyen-Dumont, Zhi L Teo, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Nelly Sabbaghian, Marc Tischkowitz, William D Foulkes, Graham G Giles, John L Hopper, Melissa C Southey and Daniel J Park

    Citation: BMC Medical Genomics 2013 6:48

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  50. Content type: Research article

    Obstructive sleep apnea (OSA) is associated with adverse and interdependent cognitive and cardiovascular consequences. Increasing evidence suggests that nitric oxide synthase (NOS) and endothelin family (EDN) gen...

    Authors: Siriporn Chatsuriyawong, David Gozal, Leila Kheirandish-Gozal, Rakesh Bhattacharjee, Ahamed A Khalyfa, Yang Wang, Wasana Sukhumsirichart and Abdelnaby Khalyfa

    Citation: BMC Medical Genomics 2013 6:29

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