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  1. Content type: Review

    Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture ...

    Authors: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata and Luísa Azevedo

    Citation: Human Genomics 2019 13:31

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  2. Content type: Primary research

    Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analy...

    Authors: Naznin Sultana, Mijanur Rahman, Sanat Myti, Jikrul Islam, Md. G. Mustafa and Kakon Nag

    Citation: Human Genomics 2019 13:30

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  3. Content type: Correction

    In the original publication of this article [1], the Figure 1 and Figure 2 were wrong. The Figure 1 “Heat map showing the quantity of DNA repair genes, from red to blue in ascending order, per species’ genome (nu...

    Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

    Citation: Human Genomics 2019 13:29

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    The original article was published in Human Genomics 2019 13:26

  4. Content type: Primary research

    Adjuvant radiotherapy (RT) can increase the risk of developing pain; however, the molecular mechanisms of RT-related pain remain unclear. The current study aimed to identify susceptibility loci and enriched pa...

    Authors: Eunkyung Lee, Cristiane Takita, Jean L. Wright, Susan H. Slifer, Eden R. Martin, James J. Urbanic, Carl D. Langefeld, Glenn J. Lesser, Edward G. Shaw and Jennifer J. Hu

    Citation: Human Genomics 2019 13:28

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  6. Content type: Primary research

    Adaptive radiation and evolutionary stasis are characterized by very different evolution rates. The main aim of this study was to investigate if any genes have a special role to a high or low evolution rate. T...

    Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

    Citation: Human Genomics 2019 13:26

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    The Correction to this article has been published in Human Genomics 2019 13:29

  7. Content type: Primary research

    Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often cl...

    Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks and Aare Märtson

    Citation: Human Genomics 2019 13:25

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  8. Content type: Opinion article

    The HUGO Committee on Ethics, Law and Society (CELS) undertook a Working Group exploration of the key ethical issues arising from genome sequencing in 2013. The Imagined Futures paper the group subsequently publi...

    Authors: Benjamin Capps, Ruth Chadwick, Yann Joly, Tamra Lysaght, Catherine Mills, John J. Mulvihill and Hub Zwart

    Citation: Human Genomics 2019 13:24

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  10. Content type: Primary research

    Elevated resting heart rate (HR) is a risk factor and therapeutic target in patients with heart failure (HF) and reduced ejection fraction (HFrEF). Previous studies indicate a genetic contribution to HR in pop...

    Authors: Kaleigh L. Evans, Heidi S. Wirtz, Jia Li, Ruicong She, Juan Maya, Hongsheng Gui, Andrew Hamer, Christophe Depre and David E. Lanfear

    Citation: Human Genomics 2019 13:22

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  11. Content type: Primary research

    End-stage kidney disease (ESKD) is a significant public health concern disproportionately affecting African Americans (AAs). Type 2 diabetes (T2D) is the leading cause of ESKD in the USA, and efforts to uncove...

    Authors: Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Pamela J. Hicks, Jianzhao Xu, Nicholette D. Palmer, Lijun Ma, Swapan K. Das, Yii-Der I. Chen, Josef Coresh, Myriam Fornage, Nora Franceschini, Holly Kramer, Carl D. Langefeld, Josyf C. Mychaleckyj, Rulan S. Parekh…

    Citation: Human Genomics 2019 13:21

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  12. Content type: Primary research

    Genome-wide association studies (GWAS) of diseases and traits have found associations to gene regions but not the functional SNP or the gene mediating the effect. Difference in gene regulatory signals can be d...

    Authors: Marco Cavalli, Nicholas Baltzer, Gang Pan, José Ramón Bárcenas Walls, Karolina Smolinska Garbulowska, Chanchal Kumar, Stanko Skrtic, Jan Komorowski and Claes Wadelius

    Citation: Human Genomics 2019 13:20

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  13. Content type: Primary research

    Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as o...

    Authors: Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella and Nicholas Katsanis

    Citation: Human Genomics 2019 13:19

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  15. Content type: Primary research

    Obesity during childhood can lead to increased risk of adverse cardiometabolic diseases such as type 2 diabetes and coronary artery disease during adult life. Evidence for strong genetic correlations between c...

    Authors: Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos

    Citation: Human Genomics 2019 13:17

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  17. Content type: Primary research

    Age-related macular degeneration (AMD) is the most common, progressive, and polygenic cause of irreversible visual impairment in the world. The molecular pathogenesis of the primary events of AMD is poorly und...

    Authors: Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang

    Citation: Human Genomics 2019 13:15

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  18. Content type: Primary research

    Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the developm...

    Authors: Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu and Ying Yang

    Citation: Human Genomics 2019 13:14

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  19. Content type: Primary research

    The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, follow...

    Authors: Nur Afiqah Mohamad, Vasudevan Ramachandran, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat and Mohd Hazmi Mohamed

    Citation: Human Genomics 2019 13:13

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  20. Content type: Primary research

    Colorectal cancer (CRC) is the first cause of cancer deaths among Puerto Ricans. The incidence and mortality of CRC in Puerto Rico continue to be on the rise. The burden of CRC in Puerto Rico is higher than am...

    Authors: Julyann Pérez-Mayoral, Marievelisse Soto-Salgado, Ebony Shah, Rick Kittles, Mariana C. Stern, Myrta I. Olivera, María Gonzalez-Pons, Segundo Rodriguez-Quilichinni, Marla Torres, Jose S. Reyes, Luis Tous, Nicolas López, Victor Carlo Chevere and Marcia Cruz-Correa

    Citation: Human Genomics 2019 13:12

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  21. Content type: Review

    Lipocalins (LCNs) are members of a family of evolutionarily conserved genes present in all kingdoms of life. There are 19 LCN-like genes in the human genome, and 45 Lcn-like genes in the mouse genome, which inclu...

    Authors: Georgia Charkoftaki, Yewei Wang, Monica McAndrews, Elspeth A. Bruford, David C. Thompson, Vasilis Vasiliou and Daniel W. Nebert

    Citation: Human Genomics 2019 13:11

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  22. Content type: Primary research

    Despite a number of different transgenes that can mediate DNA deletion in the developing lens, each has unique features that can make a given transgenic line more or less appropriate for particular studies. Th...

    Authors: Phuong T. Lam, Stephanie L. Padula, Thanh V. Hoang, Justin E. Poth, Lin Liu, Chun Liang, Adam S. LeFever, Lindsay M. Wallace, Ruth Ashery-Padan, Penny K. Riggs, Jordan E. Shields, Ohad Shaham, Sheldon Rowan, Nadean L. Brown, Tom Glaser and Michael L. Robinson

    Citation: Human Genomics 2019 13:10

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  23. Content type: Primary research

    Accurate and reliable identification of sequence variants, including single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (INDELs), plays a fundamental role in next-generation sequencing...

    Authors: Man Tang, Mohammad Shabbir Hasan, Hongxiao Zhu, Liqing Zhang and Xiaowei Wu

    Citation: Human Genomics 2019 13:9

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  24. Content type: Primary research

    The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between ...

    Authors: Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li and Jian-Min Chen

    Citation: Human Genomics 2019 13:8

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  25. Content type: Primary research

    The ability to digest dietary lactose is associated with lactase persistence (LP) in the intestinal lumen in human. The genetic basis of LP has been investigated in many populations in the world. Iran has a lo...

    Authors: Hadi Charati, Min-Sheng Peng, Wei Chen, Xing-Yan Yang, Roghayeh Jabbari Ori, Mohsen Aghajanpour-Mir, Ali Esmailizadeh and Ya-Ping Zhang

    Citation: Human Genomics 2019 13:7

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    The Correction to this article has been published in Human Genomics 2019 13:16

  26. Content type: Primary research

    Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist.

    Authors: Anna L. Guyatt, Rebecca R. Brennan, Kimberley Burrows, Philip A. I. Guthrie, Raimondo Ascione, Susan M. Ring, Tom R. Gaunt, Angela Pyle, Heather J. Cordell, Debbie A. Lawlor, Patrick F. Chinnery, Gavin Hudson and Santiago Rodriguez

    Citation: Human Genomics 2019 13:6

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  27. Content type: Primary research

    The association of platelet endothelial cell adhesion molecule 1 (PECAM1), hypoxia-inducible factor 1 subunit alpha (HIF1A), and KIAA1462 in myocardial infarction (MI) was investigated. The study included 401 ...

    Authors: Yilan Li, Shipeng Wang, Dandan Zhang, Xueming Xu, Bo Yu and Yao Zhang

    Citation: Human Genomics 2019 13:5

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  28. Content type: Primary research

    Germline BRCA1/2 prevalence is relatively low in sporadic triple-negative breast cancer (TNBC). We hypothesized that non-BRCA genes may also have significant germline contribution to Chinese sporadic TNBC, and...

    Authors: Dandan Yi, Lei Xu, Jiaqi Luo, Xiaobin You, Tao Huang, Yi Zi, Xiaoting Li, Ru Wang, Zaixuan Zhong, Xiaoqiao Tang, Ang Li, Yujian Shi, Jianmei Rao, Yifen Zhang and Jianfeng Sang

    Citation: Human Genomics 2019 13:4

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  29. Content type: Primary research

    Interpretation of variants of unknown significance (VUS) in genetic tests is complicated in ethnically diverse populations, given the lack of information regarding the common spectrum of genetic variation in c...

    Authors: J. C. Fernández-Lopez, S. Romero-Córdoba, R. Rebollar-Vega, L. A. Alfaro-Ruiz, S. Jiménez-Morales, F. Beltrán-Anaya, R. Arellano-Llamas, A. Cedro-Tanda, M. Rios-Romero, M. Ramirez-Florencio, V. Bautista-Piña, C. Dominguez-Reyes, F. Villegas-Carlos, A. Tenorio-Torres and A. Hidalgo-Miranda

    Citation: Human Genomics 2019 13:3

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  30. Content type: Review

    The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This ...

    Authors: Haiko Schurz, Muneeb Salie, Gerard Tromp, Eileen G. Hoal, Craig J. Kinnear and Marlo Möller

    Citation: Human Genomics 2019 13:2

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  31. Content type: Primary research

    Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficienc...

    Authors: Li-Ya Wang, Xing-Qiang Rao, Yu-Qin Luo, Bei Liu, Chun-Fang Peng, Dan Chen, Kai Yan, Ye-Qing Qian, Yan-Mei Yang, Ying-Zhi Huang, Min Chen, Yi-Xi Sun, Hong-Ge Li, Ying-Hui Ye, Fan Jin, Hai-Liang Liu…

    Citation: Human Genomics 2019 13:1

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  32. Content type: Primary research

    Cardiac hypertrophy and acute myocardial infarction (AMI) are two common heart diseases worldwide. However, research is needed into the exact pathogenesis and effective treatment strategies for these diseases....

    Authors: Jiantao Sun, Jiemei Yang, Jing Chi, Xue Ding and Nan Lv

    Citation: Human Genomics 2018 12:52

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  33. Content type: Primary research

    Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protei...

    Authors: Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, Sarah Louise Ariansen and Nina Iversen

    Citation: Human Genomics 2018 12:51

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  34. Content type: Primary research

    Increasing evidence is demonstrating that a patient’s unique genetic profile can be used to detect the disease’s onset, prevent its progression, and optimize its treatment. This led to the increased global eff...

    Authors: Lejla Mahmutovic, Betul Akcesme, Camil Durakovic, Faruk Berat Akcesme, Aida Maric, Muhamed Adilovic, Nour Hamad, Matthias Wjst, Oliver Feeney and Sabina Semiz

    Citation: Human Genomics 2018 12:50

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  35. Content type: Primary research

    Modeling thousands of markers simultaneously has been of great interest in testing association between genetic biomarkers and disease or disease-related quantitative traits. Recently, an expectation-maximizati...

    Authors: Weiwei Duan, Ruyang Zhang, Yang Zhao, Sipeng Shen, Yongyue Wei, Feng Chen and David C. Christiani

    Citation: Human Genomics 2018 12:49

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  36. Content type: Primary research

    Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these v...

    Authors: Sanghoon Moon, Young Lee, Sungho Won and Juyoung Lee

    Citation: Human Genomics 2018 12:48

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  38. Content type: Primary research

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene...

    Authors: Hang Yang, Yanyun Ma, Mingyao Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu and Zhou Zhou

    Citation: Human Genomics 2018 12:46

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  39. Content type: Primary research

    We aimed to clarify the emerging epigenetic landscape in a group of genes classified as “modifier genes” of the β-type globin genes (HBB cluster), known to operate in trans to accomplish the two natural developme...

    Authors: Vasiliki Chondrou, Eleana F. Stavrou, Georgios Markopoulos, Alexandra Kouraklis-Symeonidis, Vasilios Fotopoulos, Argiris Symeonidis, Efthymia Vlachaki, Panagiota Chalkia, George P. Patrinos, Adamantia Papachatzopoulou and Argyro Sgourou

    Citation: Human Genomics 2018 12:45

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  40. Content type: Primary research

    Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence...

    Authors: Huilin Xie, Erge Zhang, Nanchao Hong, Qihua Fu, Fen Li, Sun Chen, Yu Yu and Kun Sun

    Citation: Human Genomics 2018 12:44

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  41. Content type: Primary research

    Genetic polymorphisms can contribute to phenotypic differences amongst individuals, including disease risk and drug response. Characterization of genetic polymorphisms that modulate gene expression and/or prot...

    Authors: Yu Jin, Jingbo Wang, Maulana Bachtiar, Samuel S. Chong and Caroline G. L. Lee

    Citation: Human Genomics 2018 12:43

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  42. Content type: Primary research

    Variants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings. Secondary findings are not the primary targets of whole exome ...

    Authors: Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu and Zhou Zhou

    Citation: Human Genomics 2018 12:42

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  43. Content type: Primary research

    Studying epigenetics is expected to provide precious information on how environmental factors contribute to type 2 diabetes mellitus (T2DM) at the genomic level. With the progress of the whole-genome resequenc...

    Authors: Chandrakumar Sathishkumar, Paramasivam Prabu, Viswanathan Mohan and Muthuswamy Balasubramanyam

    Citation: Human Genomics 2018 12:41

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  44. Content type: Primary research

    Massive occurrences of interstitial loss of heterozygosity (LOH) likely resulting from gene conversions were found by us in different cancers as a type of single-nucleotide variations (SNVs), comparable in abu...

    Authors: Taobo Hu, Yogesh Kumar, Iram Shazia, Shen-Jia Duan, Yi Li, Lei Chen, Jin-Fei Chen, Rong Yin, Ava Kwong, Gilberto Ka-Kit Leung, Wai-Kin Mat, Zhenggang Wu, Xi Long, Cheuk-Hin Chan, Si Chen, Peggy Lee…

    Citation: Human Genomics 2018 12:40

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  45. Content type: Primary research

    Ovarian cancer is the leading cause of death worldwide among gynecologic malignancies. The recent approval of inhibitors of poly (ADP-ribose) polymerase (iPARP) in the treatment of ovarian cancer in the presen...

    Authors: Florencia C. Cardoso, Susana Goncalves, Pablo G. Mele, Natalia C. Liria, Leonardo Sganga, Ignacio Diaz Perez, Ernesto J. Podesta and Angela R. Solano

    Citation: Human Genomics 2018 12:39

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  47. Content type: Primary research

    High-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long t...

    Authors: Xiaowei Fan, Lifeng Ma, Zhiying Zhang, Yi Li, Meng Hao, Zhipeng Zhao, Yiduo Zhao, Fang Liu, Lijun Liu, Xingguang Luo, Peng Cai, Yansong Li and Longli Kang

    Citation: Human Genomics 2018 12:37

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  48. Content type: Genome database

    Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obvi...

    Authors: Isabelle Cusin, Daniel Teixeira, Monique Zahn-Zabal, Valentine Rech de Laval, Anne Gleizes, Valeria Viassolo, Pierre O. Chappuis, Pierre Hutter, Amos Bairoch and Pascale Gaudet

    Citation: Human Genomics 2018 12:36

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  49. Content type: Primary research

    Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigm...

    Authors: Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin and J. Fielding Hetmancik

    Citation: Human Genomics 2018 12:35

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  50. Content type: Primary research

    Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background,...

    Authors: Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz and Cezary Zekanowski

    Citation: Human Genomics 2018 12:34

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Human Genomics

ISSN: 1479-7364