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  1. Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO1...

    Authors: Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan and Pu Dai
    Citation: BMC Medical Genomics 2022 15:241
    Content type: Research Published on:

  2. The pathophysiology of hepatitis B-related liver cirrhosis (HBV-LC) remains unclear. This study aimed to explore the disease mechanisms using topological analysis of the miRNA/mRNA network.

    Authors: Heng Yao, Peng Li, Jiaojiao Xin, Xi Liang, Jing Jiang, Dongyan Shi, Jiang Li, Hozeifa Mohamed Hassan, Xin Chen and Jun Li
    Citation: BMC Medical Genomics 2022 15:240
    Content type: Research Published on:

  3. Although emerging evidence has revealed that LHPP, a histidine phosphatase protein, suppresses the progression of different cancers, a pan-cancer analysis still remains unavailable. Therefore, we first utilized d...

    Authors: Kai Guo, Wei Tian, Hongtao Wang, Dongmin Chang, Yawei Dou, Jinyan Yuan, Yaohua Chen and Bin Hou
    Citation: BMC Medical Genomics 2022 15:239
    Content type: Research Published on:

  5. Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations.

    Authors: Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal and Ambroise Wonkam
    Citation: BMC Medical Genomics 2022 15:237
    Content type: Research Published on:

  6. The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disor...

    Authors: Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy and Imen Dorboz
    Citation: BMC Medical Genomics 2022 15:236
    Content type: Research article Published on:

  7. Hepatocellular carcinoma (HCC) is the second leading cause of cancer-related mortality worldwide. It is a highly heterogeneous disease with poor prognosis and limited treatment options, which highlights the ne...

    Authors: Srinivas Reddy Pallerla, Nghiem Xuan Hoan, Sivaramakrishna Rachakonda, Christian G. Meyer, Hoang Van Tong, Nguyen Linh Toan, Le Thi Kieu Linh, Dao Phuong Giang, Peter G. Kremsner, Mai Hong Bang, Le Huu Song and Thirumalaisamy P. Velavan
    Citation: BMC Medical Genomics 2022 15:235
    Content type: Research Published on:

  8. Familial dilated cardiomyopathy (DCM) is a genetic heart disorder characterized by progressive heart failure and sudden cardiac death. Over 250 genes have been reported in association with DCM; nonetheless, th...

    Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar and Samira Kalayinia
    Citation: BMC Medical Genomics 2022 15:234
    Content type: Research Published on:

  9. Glioblastoma (GBM), the most common glial primary brain tumour, is without exception lethal. Every year approximately 600 patients are diagnosed with this heterogeneous disease in The Netherlands. Despite neur...

    Authors: Mark P. van Opijnen, Marike L. D. Broekman, Filip Y. F. de Vos, Edwin Cuppen, Jacobus J. M. van der Hoeven, Myra E. van Linde, Annette Compter, Laurens V. Beerepoot, Martin J. van den Bent, Maaike J. Vos, Helle-Brit Fiebrich, Johan A. F. Koekkoek, Ann Hoeben, Kuan H. Kho, Chantal M. L. Driessen, Hanne-Rinck Jeltema…
    Citation: BMC Medical Genomics 2022 15:233
    Content type: Study protocol Published on:

  11. This study aimed to analyse the genomic alteration profiles and immune characteristics of a cohort of Chinese cervical cancer patients to understand why certain patients benefited from molecular targeted thera...

    Authors: Jing Liu, Zirong Li, Ting Lu, Junping Pan, Li Li, Yanwen Song, Dan Hu, Yanhong Zhuo, Ying Chen and Qin Xu
    Citation: BMC Medical Genomics 2022 15:231
    Content type: Research Published on:

  12. Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the gen...

    Authors: Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He and Jian Song
    Citation: BMC Medical Genomics 2022 15:230
    Content type: Research Published on:

  13. Biological experiments have demonstrated that circRNA plays an essential role in various biological processes and human diseases. However, it is time-consuming and costly to merely conduct biological experimen...

    Authors: Siyuan Shen, Junyi Liu, Cheng Zhou, Yurong Qian and Lei Deng
    Citation: BMC Medical Genomics 2022 13(Suppl 1):196
    Content type: Research Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

  14. Colorectal cancer is common among obese individuals. The purpose of the current study was to determine changes in DNA methylation status and mRNA expression of thyroid hormone receptor beta (THRB), as a tumor sup...

    Authors: Ghazaleh Shimi, Katayoun Pourvali, Arman Ghorbani, Sajad Nooshin, Shohreh Zare Karizi, Reza Iranirad and Hamid Zand
    Citation: BMC Medical Genomics 2022 15:229
    Content type: Research Published on:

  15. Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. To explain the...

    Authors: Nipaporn Deejai, Nunghathai Sawasdee, Choochai Nettuwakul, Wanchai Wanachiwanawin, Suchai Sritippayawan, Pa-thai Yenchitsomanus and Nanyawan Rungroj
    Citation: BMC Medical Genomics 2022 15:228
    Content type: Research Published on:

  17. Acute lymphoblastic leukemia (ALL) is a type of heterogeneous hematopoietic malignancy that accounts for approximately 20% of adult ALL. Although ALL complete remission (CR) rate has increased to 85–90% after ...

    Authors: Xin Zong, Zhijie Kang, Dan Huang, Xuehong Zhang, Yuan Gao, Haina Wang, Weiling Li and Jinsong Yan
    Citation: BMC Medical Genomics 2022 15:226
    Content type: Case report Published on:

  19. To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart...

    Authors: A. Martínez-Hernández, D. Martínez-Anaya, C. Durán-McKinster, V. Del Castillo-Ruiz, P. Navarrete-Meneses, E. J. Córdova, B. E. Villegas-Torres, A. Ruiz-Herrera, R. Juárez-Velázquez, E. Yokoyama-Rebollar, D. Cervantes-Barragán, A. Pedraza-Meléndez, L. Orozco, P. Pérez-Vera and C. Salas-Labadía
    Citation: BMC Medical Genomics 2022 15:224
    Content type: Case report Published on:

  20. In China, gastric cancer (GC) is one of the most common malignant tumors. This study aimed to explore the relationship of rs2297810, rs4646491 and rs2297809 polymorphisms of CYP4B1 with susceptibility to GC in th...

    Authors: Shuyong Yu, Zhuang Chen, Jiajia Cheng, Xingang Shi, Jiaqi Liu, Ping Zhong and Jian Song
    Citation: BMC Medical Genomics 2022 15:223
    Content type: Research Published on:

  21. hepatocellular carcinoma (HCC) is the major form of liver cancer with a poor prognosis. Amino acid metabolism has been found to alter in cancers and contributes to malignant progression. However, the asparagin...

    Authors: Jianguo Bai, Ruifeng Tang, Keyu Zhou, Jialei Chang, Hongyue Wang, Qixin Zhang, Jiahui Shi and Chao Sun
    Citation: BMC Medical Genomics 2022 15:222
    Content type: Research Published on:

  22. Energy metabolism disorder, especially lipid metabolism disorder, is an important biological characteristic of colon cancer. This research sought to examine the association between lipid metabolism-related lon...

    Authors: Yaobin Lin, Yu Xiao, Shan Liu, Liang Hong, Lingdong Shao and Junxin Wu
    Citation: BMC Medical Genomics 2022 15:221
    Content type: Research Published on:

  23. Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the cli...

    Authors: Bin Zuo, Hongen Xu, Zhaoyu Pan, Lu Mao, Haifeng Feng, Beiping Zeng, Wenxue Tang and Wei Lu
    Citation: BMC Medical Genomics 2022 15:220
    Content type: Research Published on:

  24. Various studies showed that the effect of immune activation is pro-atherogenic and coronary heart disease (CHD) should therefore be considered an autoimmune disease. This study aimed to identify potential immu...

    Authors: Lianbo Zhang, Guibin Li, Bo Liang, Xiaoli Su, Haolin Xie, Hongxia Sun and Ge Wu
    Citation: BMC Medical Genomics 2022 15:219
    Content type: Research Published on:

  25. Autophagy regulators play important roles in the occurrence and development of a variety of tumors and are involved in immune regulation and drug resistance. However, the modulatory roles and prognostic value ...

    Authors: Si-Yuan Lu, Jie Hua, Jiang Liu, Miao-Yan Wei, Chen Liang, Qing-Cai Meng, Bo Zhang, Xian Jun Yu, Wei Wang and Jin Xu
    Citation: BMC Medical Genomics 2022 15:218
    Content type: Research Published on:

  26. Bladder cancer (BC) is the 10th most frequent tumor worldwide. Evidence shows an association between elevated risk of BC and various single nucleotide polymorphisms (SNP). BC incidence was the highest in Lebanon ...

    Authors: Hampig Raphael Kourie, Bahaa Succar, Eliane Chouery, Cybel Mehawej, Nizar Ahmadieh, Joseph Zouein, Avedis Mardirossian, Nadine Jalkh, Ghassan Sleilaty, Joseph Kattan and Elie Nemr
    Citation: BMC Medical Genomics 2022 15:217
    Content type: Research Published on:

  27. Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic var...

    Authors: Zhi Yi, Zhenfeng Song, Jiao Xue, Chengqing Yang, Fei Li, Hua Pan, Xuan Feng, Ying Zhang and Hong Pan
    Citation: BMC Medical Genomics 2022 15:216
    Content type: Research article Published on:

  28. RNA is a critical analyte for unambiguous detection of actionable mutations used to guide treatment decisions in oncology. Currently available methods for gene fusion detection include molecular or antibody-ba...

    Authors: Eleanor R Gray, Justyna M Mordaka, Efthimia R Christoforou, Kristine von Bargen, Nicola D Potts, Christina Xyrafaki, Ana-Luisa Silva, Magdalena Stolarek-Januszkiewicz, Katarzyna Anton, Paulina K Powalowska, Simonetta Andreazza, Alessandro Tomassini, Rebecca N Palmer, Aishling Cooke, Robert J Osborne and Barnaby W Balmforth
    Citation: BMC Medical Genomics 2022 15:215
    Content type: Research Published on:

  30. Ventricular septal defect is the most common form of congenital heart diseases. MYH6 gene has a critical effect on the growth and development of the heart but the variants in the promoter of MYH6 is unknown.

    Authors: Ji-Yang Zuo, Huan-Xin Chen, Zhi-Gang Liu, Qin Yang and Guo-Wei He
    Citation: BMC Medical Genomics 2022 15:213
    Content type: Research Published on:

  31. Geriatric people are prone to suffer from multiple chronic diseases, which can directly or indirectly affect renal function. Through bioinformatics analysis, this study aimed to identify key genes and pathways...

    Authors: Lingyun Zhang, Jiasheng Cai, Jing Xiao and Zhibin Ye
    Citation: BMC Medical Genomics 2022 15:212
    Content type: Research Published on:

  32. In previous studies, five vasoactive drugs were investigated for their effect on the recovery process after extended liver resection without observing relevant improvements. We hypothesized that an analysis of...

    Authors: Janine Arlt, Sebastian Vlaic, Ronny Feuer, Maria Thomas, Utz Settmacher, Uta Dahmen and Olaf Dirsch
    Citation: BMC Medical Genomics 2022 15:211
    Content type: Research Published on:

  33. Syndactyly (SD) refers to a deformity caused by the fusion and limb differentiation disorder of soft tissues and/or skeletons to varying extents between adjacent fingers (toes). The main features of this disea...

    Authors: Husile Husile, Zhifeng Wu, Liqing Yang, Yaning Cao and Qizhu Wu
    Citation: BMC Medical Genomics 2022 15:210
    Content type: Research Published on:

  35. Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has show...

    Authors: Yimeng Qiao, Yangong Wang, Yiran Xu, Jin Zhang, Yu Su, Ye Cheng, Dan Bi, Juan Song, Lei Xia, Ming Li, Xiaoli Zhang, Dengna Zhu, Ting Wang, Jian Ding, Xiaoyang Wang, Changlian Zhu…
    Citation: BMC Medical Genomics 2022 15:208
    Content type: Research Published on:

  36. Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applyin...

    Authors: Manuel Corpas, Karyn Megy, Antonio Metastasio and Edmund Lehmann
    Citation: BMC Medical Genomics 2022 15(Suppl 3):207
    Content type: Case study Published on:

    This article is part of a Supplement: Volume 15 Supplement 3

  37. The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-trea...

    Authors: Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo and Beom Hee Lee
    Citation: BMC Medical Genomics 2022 15:206
    Content type: Research Published on:

  38. Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifestin...

    Authors: Yi Sun, Wenhui Qiang, Runze Wu, Tong Yin, Jie Yuan, Jin Yuan and Yunjuan Gu
    Citation: BMC Medical Genomics 2022 15:205
    Content type: Case report Published on:

  39. Approximately 90% of renal malignancies are RCCs (renal cell carcinomas), and the primary subtype in histology is ccRCC (clear cell RCC). In recent years, pyroptosis has been considered a kind of inflammation-...

    Authors: Zhiyuan Li, Zhinan Xia, Yipeng Yu, Licheng Cai, Wengang Jian, Tengda Wang, Wei Xue, Xingyuan Wang, Bowen Wang, Peng Zhang, Wenhao Yao, Cheng Zhang and Chunyang Wang
    Citation: BMC Medical Genomics 2022 15:204
    Content type: Research Published on:

  40. Next-generation sequencing (NGS) detects somatic mutations in a high proportion of plasma cell dyscrasias (PCD), but is currently not integrated into diagnostic routine. We correlated NGS data with degree of b...

    Authors: Ekaterina Rebmann Chigrinova, Naomi A. Porret, Martin Andres, Gertrud Wiedemann, Yara Banz, Myriam Legros, Matthias Pollak, Elisabeth Oppliger Leibundgut, Thomas Pabst and Ulrike Bacher
    Citation: BMC Medical Genomics 2022 15:203
    Content type: Research article Published on:

  41. We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia an...

    Authors: Qiuling Zhao, Xiaoduo Li, Li Liu, Xu Zhang, Xin Pan, Hong Yao, Yongyi Ma and Bo Tan
    Citation: BMC Medical Genomics 2022 15:202
    Content type: Research Published on:

  42. Noncoding RNAs (ncRNAs), pyroptosis and tumours are all hot topics in current research, but there are very limited studies on pyroptosis and its regulated ncRNAs in colon adenocarcinoma (COAD).

    Authors: Yanfeng Chen, Zongbiao Tian, Hebin Hou and Wei Gai
    Citation: BMC Medical Genomics 2022 15:201
    Content type: Research Published on:

  43. Acquired immunodeficiency syndrome (AIDS) is a chronic infectious disease characterized by consistent immune dysfunction. The objective of this study is to determine whether immune cell-related genes can be us...

    Authors: Ruojing Bai, Zhen Li, Shiyun Lv, Wei Hua, Lili Dai and Hao Wu
    Citation: BMC Medical Genomics 2022 15:200
    Content type: Research Published on:

  45. Although the relationship between inflammatory response and tumor has been gradually recognized, the potential implications of of inflammatory response genes in lung adenocarcinoma (LUAD) remains poorly invest...

    Authors: Congkuan Song, Shize Pan, Donghang Li, Bo Hao, Zilong Lu, Kai Lai, Ning Li and Qing Geng
    Citation: BMC Medical Genomics 2022 15:198
    Content type: Research Published on:

  46. Leber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the ...

    Authors: Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu and Liwei Zhang
    Citation: BMC Medical Genomics 2022 15:197
    Content type: Research Published on:

  47. The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in ...

    Authors: Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng and Hong-ying Pan
    Citation: BMC Medical Genomics 2022 15:196
    Content type: Case report Published on:

  48. Formalin-fixed, paraffin-embedded (FFPE) tissues have many advantages for identification of risk biomarkers, including wide availability and potential for extended follow-up endpoints. However, RNA derived fro...

    Authors: Yuanhang Liu, Aditya Bhagwate, Stacey J. Winham, Melissa T. Stephens, Brent W. Harker, Samantha J. McDonough, Melody L. Stallings-Mann, Ethan P. Heinzen, Robert A. Vierkant, Tanya L. Hoskin, Marlene H. Frost, Jodi M. Carter, Michael E. Pfrender, Laurie Littlepage, Derek C. Radisky, Julie M. Cunningham…
    Citation: BMC Medical Genomics 2022 15:195
    Content type: Research Published on:

  50. Personalized medicine is an emerging field, aiming to improve the safety and efficacy of pharmacotherapy. The field’s implementation in clinical care is steadily increasing. Pharmacogenomics are one example of...

    Authors: Ahmed Edris, Evi Callier and Lies Lahousse
    Citation: BMC Medical Genomics 2022 15(Suppl 3):193
    Content type: Research Published on:

    This article is part of a Supplement: Volume 15 Supplement 3

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BMC Medical Genomics

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