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  1. Molecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possibl...

    Authors: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder and Isabel Diebold

    Citation: BMC Medical Genomics 2021 14:94

    Content type: Technical advance

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  2. This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and ...

    Authors: Marco La Verde, Luigia De Falco, Annalaura Torella, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Anna Conte, Vera Fico, Marco Torella and Antonio Fico

    Citation: BMC Medical Genomics 2021 14:93

    Content type: Research article

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  3. Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large number of patients remain genetically undiagnosed. Targeted next-...

    Authors: Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu and Xiangdong Kong

    Citation: BMC Medical Genomics 2021 14:92

    Content type: Research article

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  4. Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on ...

    Authors: Julia Suárez-González, Verónica Seidel, Cristina Andrés-Zayas, Elvira Izquierdo and Ismael Buño

    Citation: BMC Medical Genomics 2021 14:91

    Content type: Case report

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  5. Coronary Artery Disease (CAD) is the narrowing or blockage of the coronary arteries. It is closely associated with numerous genetics and environmental factors that have been extensively evaluated in various po...

    Authors: Victor Wakim, Elie Abi Khalil, Angelique K. Salloum, Georges Khazen, Michella Ghassibe-Sabbagh and Pierre A. Zalloua

    Citation: BMC Medical Genomics 2021 14:90

    Content type: Research article

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  6. Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract, microcephaly and growth failure. The aim of this study...

    Authors: Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca and Tamara Stampalija

    Citation: BMC Medical Genomics 2021 14:89

    Content type: Case report

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  8. Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed....

    Authors: Worrawit Wanitsuwan, Sukanya Vijasika, Pichai Jirarattanasopa and Sukanya Horpaopan

    Citation: BMC Medical Genomics 2021 14:87

    Content type: Research article

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  9. RNA gene expression of renal transplantation biopsies is commonly used to identify the immunological patterns of graft rejection. Mostly done with microarrays, seminal findings defined the patterns of gene set...

    Authors: R. N. Smith

    Citation: BMC Medical Genomics 2021 14:86

    Content type: Research article

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  10. Long noncoding RNAs (lncRNAs) are closely associated with the development of hepatocellular carcinoma (HCC). The present study conducted a genome-wide microarray analysis and qPCR validation to obtain comprehe...

    Authors: Zan-Xi Fang, Jian-Jun Niu, Ping-Guo Liu and Yong Lin

    Citation: BMC Medical Genomics 2021 14:85

    Content type: Research article

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  11. Recent studies have identified susceptibility genes of HBV clearance, chronic hepatitis B, liver cirrhosis, hepatocellular carcinoma, and showed the host genetic factors play an important role in these HBV-rel...

    Authors: Zheng Zeng, Hankui Liu, Huifang Xu, Haiying Lu, Yanyan Yu, Xiaoyuan Xu, Min Yu, Tao Zhang, Xiulan Tian, Hongli Xi, Liping Guan, Jianguo Zhang and Stephen J. O’Brien

    Citation: BMC Medical Genomics 2021 14:84

    Content type: Research article

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  13. Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to hea...

    Authors: Xiliang Wang, Changsheng Wu, Dongmei Hao, Jinyan Zhang, Chang Tan, De-hua Cheng, Jia Fei and Yuexin Yu

    Citation: BMC Medical Genomics 2021 14:82

    Content type: Case report

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  15. The prevalence of open-angle glaucoma (OAG) varies from 0.5% to 7.0% among populations of diverse ancestry, suggesting the existence of genetic differences. The purposes of this study were to provide insights ...

    Authors: Hyun-Tae Shin, Byung Woo Yoon and Je Hyun Seo

    Citation: BMC Medical Genomics 2021 14:80

    Content type: Research article

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  16. Intervertebral disc degeneration, one of the major causes of low-back pain, results from altered biosynthesis/turnover of extracellular matrix in the disc. Previously, we reported that the analgesic drug Neuro...

    Authors: Tomoko Nakai, Daisuke Sakai, Yoshihiko Nakamura, Natsumi Horikita, Erika Matsushita, Mitsuru Naiki and Masahiko Watanabe

    Citation: BMC Medical Genomics 2021 14:79

    Content type: Research article

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  17. The most important health benefit of selenium (Se) is in the prevention and control of cancer. Glutathione peroxidases (GPXs) and thioredoxin reductases (TXNRDs) are selenoenzymes that are thought to play a ro...

    Authors: Wentao Wu, Daning Li, Xiaojie Feng, Fanfan Zhao, Chengzhuo Li, Shuai Zheng and Jun Lyu

    Citation: BMC Medical Genomics 2021 14:78

    Content type: Research article

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  18. To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membra...

    Authors: Lichun Xie, Zhihao Xing, Changgang Li, Si-xi Liu and Fei-qiu Wen

    Citation: BMC Medical Genomics 2021 14:77

    Content type: Case report

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  19. 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare am...

    Authors: Monika Szelest, Martyna Stefaniak, Gabriela Ręka, Ilona Jaszczuk and Monika Lejman

    Citation: BMC Medical Genomics 2021 14:76

    Content type: Case report

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  20. As a complex system participating in tumor development and progression, the tumor microenvironment was poorly understood in esophageal cancer especially squamous cell carcinoma (ESCC).

    Authors: Mingdi Liu, Faping Li, Bin Liu, Yongping Jian, Dan Zhang, Honglan Zhou, Yishu Wang and Zhixiang Xu

    Citation: BMC Medical Genomics 2021 14:75

    Content type: Research article

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  21. To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profi...

    Authors: Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee and Hyeong Gon Yu

    Citation: BMC Medical Genomics 2021 14:74

    Content type: Research article

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  23. Kidney renal clear cell carcinoma (KIRC) is the most common type of kidney cell carcinoma which has the worst overall survival rate. Almost 30% of patients with localized cancers eventually develop to metastas...

    Authors: Minjiang Huang, Ti Zhang, Zhi-Yong Yao, Chaoqung Xing, Qingyi Wu, Yuan-Wu Liu and Xiao-Liang Xing

    Citation: BMC Medical Genomics 2021 14:72

    Content type: Research article

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  24. This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild ...

    Authors: Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, Ekaterina Alexandrovna Nikolaeva and Ekaterina Yurievna Zakharova

    Citation: BMC Medical Genomics 2021 14:71

    Content type: Research article

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  25. The diagnosis of systemic lupus erythematosus (SLE) is complicated. This study explores the expression of circular RNAs (circRNAs), which are closed non-coding RNAs in which the 5′ and 3′ ends are covalently l...

    Authors: Fengping Zheng, Xiangqi Yu, Donge Tang, Xiaoping Hong, Xinzhou Zhang, Dongzhou Liu and Yong Dai

    Citation: BMC Medical Genomics 2021 14:70

    Content type: Research article

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  26. The pathogenesis of germinal center B-cell type diffuse large B-cell lymphoma (GCB-DLBCL) is not fully elucidated. This study aims to explore the regulation of super enhancers (SEs) on GCB-DLBCL by identifying...

    Authors: Xi Li, Yan Duan and Yuxia Hao

    Citation: BMC Medical Genomics 2021 14:69

    Content type: Research article

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  27. KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of ankyrin repeat domain-containing protein 11 (ANKRD11) or deletions involving ANKRD11. Herein, we report a novel de...

    Authors: Jing Chen, Zhongmin Xia, Yulin Zhou, Xiaomin Ma, Xudong Wang and Qiwei Guo

    Citation: BMC Medical Genomics 2021 14:68

    Content type: Case report

    Published on:

  29. Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendment...

    Authors: Adelyn Beil, Whitney Hornsby, Wendy R. Uhlmann, Rajani Aatre, Patricia Arscott, Brooke Wolford, Kim A. Eagle, Bo Yang, Jennifer McNamara, Cristen Willer and J. Scott Roberts

    Citation: BMC Medical Genomics 2021 14:66

    Content type: Research article

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  30. Traditionally, mutational burden and mutational signatures have been assessed by tumor-normal pair DNA sequencing. The requirement of having both normal and tumor samples is not always feasible from a clinical...

    Authors: Erik Jessen, Yuanhang Liu, Jaime Davila, Jean-Pierre Kocher and Chen Wang

    Citation: BMC Medical Genomics 2021 14:65

    Content type: Research article

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  31. Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we...

    Authors: Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott and Christopher Barnett

    Citation: BMC Medical Genomics 2021 14:64

    Content type: Research article

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  32. Clinical genomics represents a paradigm shifting change to health service delivery and practice across many conditions and life-stages. Introducing this complex technology into an already complex health system...

    Authors: Janet C. Long, Hossai Gul, Elise McPherson, Stephanie Best, Hanna Augustsson, Kate Churruca, Louise A. Ellis and Jeffrey Braithwaite

    Citation: BMC Medical Genomics 2021 14:63

    Content type: Research article

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  33. Gene fusions represent promising targets for cancer therapy in lung cancer. Reliable detection of multiple gene fusions is therefore essential.

    Authors: Carina Heydt, Christina B. Wölwer, Oscar Velazquez Camacho, Svenja Wagener-Ryczek, Roberto Pappesch, Janna Siemanowski, Jan Rehker, Florian Haller, Abbas Agaimy, Karl Worm, Thomas Herold, Nicole Pfarr, Wilko Weichert, Thomas Kirchner, Andreas Jung, Jörg Kumbrink…

    Citation: BMC Medical Genomics 2021 14:62

    Content type: Research article

    Published on:

  34. Congenital hearing loss is one of the most common birth defects. Early identification and management play a crucial role in improving patients’ communication and language acquisition. Previous studies demonstr...

    Authors: Haiyan Yang, Hongyu Luo, Guiwei Zhang, Junqing Zhang, Zhiyu Peng and Jiale Xiang

    Citation: BMC Medical Genomics 2021 14:61

    Content type: Research article

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  36. Hypertension is a complex disorder affected by gene-environment interactions. Methylenetetrahydrofolate reductase (MTHFR) gene is one of the genes in One Carbon Metabolic (OCM) pathway that affects both blood pre...

    Authors: Suniti Yadav, Imnameren Longkumer, Shipra Joshi and Kallur Nava Saraswathy

    Citation: BMC Medical Genomics 2021 14:59

    Content type: Research article

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  37. Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy...

    Authors: Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy and Muriel Holder-Espinasse

    Citation: BMC Medical Genomics 2021 14:58

    Content type: Case report

    Published on:

  38. A substantial number of infants infected with RSV develop severe symptoms requiring hospitalization. We currently lack accurate biomarkers that are associated with severe illness.

    Authors: Lu Wang, Chin-Yi Chu, Matthew N. McCall, Christopher Slaunwhite, Jeanne Holden-Wiltse, Anthony Corbett, Ann R. Falsey, David J. Topham, Mary T. Caserta, Thomas J. Mariani, Edward E. Walsh and Xing Qiu

    Citation: BMC Medical Genomics 2021 14:57

    Content type: Research article

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  39. Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a ...

    Authors: Na Ma, Hui Xi, Jing Chen, Ying Peng, Zhengjun Jia, Shuting Yang, Jiancheng Hu, Jialun Pang, Yanan Zhang, Rong Hu, Hua Wang and Jing Liu

    Citation: BMC Medical Genomics 2021 14:56

    Content type: Research article

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  40. Major depressive disorder (MDD) is a leading psychiatric disorder that involves complex abnormal biological functions and neural networks. This study aimed to compare the changes in the network connectivity of...

    Authors: Ruijie Geng and Xiao Huang

    Citation: BMC Medical Genomics 2021 14:55

    Content type: Research article

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  41. In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort for comprehensiveness and practicality, we attemp...

    Authors: Ege Ülgen, Özge Can, Kaya Bilguvar, Cemaliye Akyerli Boylu, Şirin Kılıçturgay Yüksel, Ayça Erşen Danyeli, O. Uğur Sezerman, M. Cengiz Yakıcıer, M. Necmettin Pamir and Koray Özduman

    Citation: BMC Medical Genomics 2021 14:54

    Content type: Research article

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  42. Cleft lip with or without cleft palate (CL/P) is the most common craniofacial anomaly with a high incidence of live births. The specific pathogenesis of CL/P is still unclear, although plenty of studies have b...

    Authors: Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen and Chunyan Jin

    Citation: BMC Medical Genomics 2021 14:53

    Content type: Case report

    Published on:

  45. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent compli...

    Authors: V. Thadchanamoorthy, M. T. R. Jayatunga, Kavinda Dayasiri, E. Jasinge, M. L. M. Jinnah, C. Pereira, V. Skrahina and Markandu Thirukumar

    Citation: BMC Medical Genomics 2021 14:50

    Content type: Case report

    Published on:

  47. Huntington's disease (HD) is one of the most common polyglutamine disorders, leading to progressive dyskinesia, cognitive impairment, and neuropsychological problems. Besides the dysregulation of many protein-...

    Authors: Xiaoping Tan, Yang Liu, Taiming Zhang and Shuyan Cong

    Citation: BMC Medical Genomics 2021 14:48

    Content type: Research article

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  48. Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, a...

    Authors: Ryan N. Doan, Michael B. Miller, Sonia N. Kim, Rachel E. Rodin, Javier Ganz, Sara Bizzotto, Katherine S. Morillo, August Yue Huang, Reethika Digumarthy, Zachary Zemmel and Christopher A. Walsh

    Citation: BMC Medical Genomics 2021 14:47

    Content type: Technical advance

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  49. Graves’ disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family.

    Authors: Zhuoqing Hu, Wei Li, Miaosheng Li, Hao Wei, Zhihui Hu, Yanting Chen, Ai Luo and Wangen Li

    Citation: BMC Medical Genomics 2021 14:46

    Content type: Research article

    Published on:

  50. Coronary artery calcification (CAC) is a noninvasive measure of coronary atherosclerosis, the proximal pathophysiology underlying most cases of myocardial infarction (MI). We sought to identify expression sign...

    Authors: Xiaoling Zhang, Jeroen G. J. van Rooij, Yoshiyuki Wakabayashi, Shih-Jen Hwang, Yanqin Yang, Mohsen Ghanbari, Daniel Bos, Daniel Levy, Andrew D. Johnson, Joyce B. J. van Meurs, Maryam Kavousi, Jun Zhu and Christopher J. O’Donnell

    Citation: BMC Medical Genomics 2021 14:45

    Content type: Research article

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BMC Medical Genomics

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