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  1. MicroRNAs (miRNAs) are a class of small non-coding RNA that can downregulate their targets by selectively binding to the 3′ untranslated region (3′UTR) of most messenger RNAs (mRNAs) in the human genome. MiRNA...

    Authors: Chang Li, Rebecca Wang, Aurora Wu, Tina Yuan, Kevin Song, Yongsheng Bai and Xiaoming Liu
    Citation: BMC Medical Genomics 2022 15(Suppl 2):94

    This article is part of a Supplement: Volume 15 Supplement 2

  2. There is growing evidence indicating that a number of functional connectivity networks are disrupted at each stage of the full clinical Alzheimer’s disease spectrum. Such differences are also detectable in cog...

    Authors: Bing He, Priyanka Gorijala, Linhui Xie, Sha Cao and Jingwen Yan
    Citation: BMC Medical Genomics 2022 15(Suppl 2):92

    This article is part of a Supplement: Volume 15 Supplement 2

  3. NKX2-5 variant in atrial septal defect patients has been reported. However, it is not yet been described in the Southeast Asian population. Here, we screened the NKX2-5 variants in patients with atrial septal def...

    Authors: Royhan Rozqie, Muhammad Gahan Satwiko, Dyah Wulan Anggrahini, Ahmad Hamim Sadewa, Gunadi, Anggoro Budi Hartopo, Hasanah Mumpuni and Lucia Kris Dinarti
    Citation: BMC Medical Genomics 2022 15:91
  4. Intrahepatic cholestasis of pregnancy (ICP) can cause adverse pregnancy outcomes, such as spontaneous preterm delivery and stillbirth. It is a complex disease influenced by multiple factors, including genetics...

    Authors: Hua Lai, Xianxian Liu, Siming Xin, Jiusheng Zheng, Huai Liu, Yu Ouyang, Huoxiu Yang, Yang Zeng, Yang Zou and Xiaoming Zeng
    Citation: BMC Medical Genomics 2022 15:90
  5. Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygou...

    Authors: Mostafa Saghi, Kolsoum InanlooRahatloo, Afagh Alavi, Kimia Kahrizi and Hossein Najmabadi
    Citation: BMC Medical Genomics 2022 15:89
  6. Lymph node metastasis is usually detected based on the images obtained from clinical examinations. Detecting lymph node metastasis from clinical examinations is a direct way of diagnosing metastasis, but the d...

    Authors: Shulei Ren, Wook Lee and Kyungsook Han
    Citation: BMC Medical Genomics 2022 15(Suppl 1):87

    This article is part of a Supplement: Volume 15 Supplement 1

  7. Tumor heterogeneity has been known to cause inter-assay discordance among next-generation sequencing (NGS) results. However, whether preclinical factors such as sample type, sample quality and analytical featu...

    Authors: Pham Nguyen Quy, Keita Fukuyama, Masashi Kanai, Tadayuki Kou, Tomohiro Kondo, Masahiro Yoshioka, Junichi Matsubara, Tomohiro Sakuma, Sachiko Minamiguchi, Shigemi Matsumoto and Manabu Muto
    Citation: BMC Medical Genomics 2022 15:86
  8. In this comment, we highlight the diagnosis of Birt–Hogg–Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indica...

    Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg
    Citation: BMC Medical Genomics 2022 15:85

    The original article was published in BMC Medical Genomics 2022 15:84

  9. The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this pa...

    Authors: Irma van de Beek, Maurice A. M. van Steensel and Arjan C. Houweling
    Citation: BMC Medical Genomics 2022 15:84

    The original article was published in BMC Medical Genetics 2020 21:52

    The Correspondence to this article has been published in BMC Medical Genomics 2022 15:85

  10. Corona virus disease 2019 (COVID-19) increases the risk of cardiovascular occlusive/thrombotic events and is linked to poor outcomes. The underlying pathophysiological processes are complex, and remain poorly ...

    Authors: Ahmed B. Alarabi, Attayeb Mohsen, Kenji Mizuguchi, Fatima Z. Alshbool and Fadi T. Khasawneh
    Citation: BMC Medical Genomics 2022 15:83
  11. Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to d...

    Authors: D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai and V. H. W. Dissanayake
    Citation: BMC Medical Genomics 2022 15:82
  12. Cyclin-dependent kinase subunit 2 (CKS2) is a member of cyclin dependent kinase subfamily and the relationship between CKS2 and osteosarcoma (OS) remains to be further analyzed.

    Authors: Chaohua Mo, Yanxing Wu, Jie Ma, Le Xie, Yingxin Huang, Yuanyuan Xu, Huizhi Peng, Zengwei Chen, Min Zeng and Rongjun Mao
    Citation: BMC Medical Genomics 2022 15:81
  13. Being the most common arrhythmia in clinic, atrial fibrillation (AF) causes various comorbidities to patients such as heart failure and stroke. LncRNAs were reported involved in pathogenesis of AF, yet, little...

    Authors: Xi Chen, Xiang-Yu He, Qing Dan and Yang Li
    Citation: BMC Medical Genomics 2022 15:80
  14. Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Wi...

    Authors: Jianrong Zhou, Ying Zheng, Guiying Liang, Xiaoli Xu, Jian Liu, Shaoxian Chen, Tongkai Ge, Pengju Wen, Yong Zhang, Xiaoqing Liu, Jian Zhuang, Yueheng Wu and Jimei Chen
    Citation: BMC Medical Genomics 2022 15:79
  15. Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of...

    Authors: Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh and Masoud Garshasbi
    Citation: BMC Medical Genomics 2022 15:78
  16. Circular RNAs (circRNAs) is a newly discovered non-coding RNA that can be used as biomarkers in clinical blood samples. This study aims to screen differentially expressed circular RNAs in PBMCs of patients wit...

    Authors: Huangxin Lu, Yifan Yang, Dong Kuang, Ping Liu and Junping Yang
    Citation: BMC Medical Genomics 2022 15:77
  17. Acute exposure to cigarette smoke alters gene expression in several biological pathways such as apoptosis, immune response, tumorigenesis and stress response, among others. However, the effects of electronic n...

    Authors: Rachael E. Rayner, Patrudu Makena, Gang Liu, G. L. Prasad and Estelle Cormet-Boyaka
    Citation: BMC Medical Genomics 2022 15:76
  18. Immunotherapy using immune checkpoint inhibitors (ICIs), such as antibody of programmed death-1 (PD-1)/programmed death-ligand 1 (PD-L1) has showed as a promising treatment for esophageal squamous cell carcino...

    Authors: Donghui Jin, Ligong Yuan, Feng Li, Shuaibo Wang and Yousheng Mao
    Citation: BMC Medical Genomics 2022 15:75
  19. The remarkable growth of genome-wide association studies (GWAS) has created a critical need to experimentally validate the disease-associated variants, 90% of which involve non-coding variants.

    Authors: Ammar J. Alsheikh, Sabrina Wollenhaupt, Emily A. King, Jonas Reeb, Sujana Ghosh, Lindsay R. Stolzenburg, Saleh Tamim, Jozef Lazar, J. Wade Davis and Howard J. Jacob
    Citation: BMC Medical Genomics 2022 15:74
  20. Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pr...

    Authors: Xiaoqing Wu, Ying Li, Na Lin, Linjuan Su, Xiaorui Xie, Bing Liang, Qingmei Shen, Meiying Cai, Danhua Guo, Hailong Huang and Liangpu Xu
    Citation: BMC Medical Genomics 2022 15:73
  21. Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype–phenotype correlation of MYO...

    Authors: Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan and Pu Dai
    Citation: BMC Medical Genomics 2022 15:71
  22. Next generation sequencing for oncology patient management is now routine in clinical pathology laboratories. Although wet lab, sequencing and pipeline tasks are largely automated, the analysis of variants for...

    Authors: Kenneth D. Doig, Christopher G. Love, Thomas Conway, Andrei Seleznev, David Ma, Andrew Fellowes, Piers Blombery and Stephen B. Fox
    Citation: BMC Medical Genomics 2022 15:70
  23. A majority of studies reporting human genetic variants were performed in populations of European ancestry whereas other global populations, and particularly many ethnolinguistic groups in other continents, are...

    Authors: Abdimajid Osman and Jon Jonasson
    Citation: BMC Medical Genomics 2022 15:69
  24. It has been suggested that the local microbiota in the reproductive organs is relevant to women's health and may also affect pregnancy outcomes. Analysis of partial 16S ribosomal RNA (rRNA) gene sequences gene...

    Authors: Shinnosuke Komiya, Yoshiyuki Matsuo, So Nakagawa, Yoshiharu Morimoto, Kirill Kryukov, Hidetaka Okada and Kiichi Hirota
    Citation: BMC Medical Genomics 2022 15:68
  25. SMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by brain, heart, and growth and developmental abnormalities. This ...

    Authors: Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi and Jingsi Luo
    Citation: BMC Medical Genomics 2022 15:67
  26. Field cancerization is the process in which a population of normal or pre-malignant cells is affected by oncogenic alterations leading to progressive molecular changes that drive malignant transformation. Aber...

    Authors: Qiushi Wang, Libo Wu, Jiaxing Yu, Guanghua Li, Pengfei Zhang, Haozhe Wang, Lin Shao, Jinying Liu and Weixi Shen
    Citation: BMC Medical Genomics 2022 15:66
  27. This study is aimed at investigating the association of Fibrillin-1 (FBN1) and transforming growth factor β (TGF-β) signaling-related gene polymorphisms with the susceptibility of Stanford type B aortic dissectio...

    Authors: Ling Sun, Yafei Chang, Peipei Jiang, Yitong Ma, Qinghua Yuan and Xiang Ma
    Citation: BMC Medical Genomics 2022 15:65
  28. We aimed to screen out biomarkers for atrial fibrillation (AF) based on machine learning methods and evaluate the degree of immune infiltration in AF patients in detail.

    Authors: Li-Da Wu, Feng Li, Jia-Yi Chen, Jie Zhang, Ling-Ling Qian and Ru-Xing Wang
    Citation: BMC Medical Genomics 2022 15:64
  29. Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide ...

    Authors: Mansour Al Qurashi, Ahmed Mustafa, Syed Sameer Aga, Abrar Ahmad, Abdellatif El-Farra, Aiman Shawli, Mohammed Al Hindi and Mohammed Hasosah
    Citation: BMC Medical Genomics 2022 15:63
  30. The origin of SARS-CoV-2 is uncertain. Findings support a “bat origin” but results are not highly convincing. Studies found evidence that SARS-CoV-2 was around for many years before the pandemic outbreak. Evid...

    Authors: Konstantinos Voskarides
    Citation: BMC Medical Genomics 2022 15:62
  31. In traditional Chinese medicine, it is believed that the “tongue coating is produced by fumigation of stomach gas”, and that tongue coating can reflect the health status of humans, especially stomach health. T...

    Authors: Jiaxing Cui, Siyu Hou, Bing Liu, Mingran Yang, Lai Wei, Shiyu Du and Shao Li
    Citation: BMC Medical Genomics 2022 15:60
  32. Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present ...

    Authors: Yingxuan Li, Miaomiao Wang, Zhaoyang Huang, Jing Ye and Yuping Wang
    Citation: BMC Medical Genomics 2022 15:59
  33. The major histocompatibility complex (MHC) in humans includes three classical class I loci (A, B, and C), which are important biomarkers for the transplantation of organs and hematopoietic stem cells. In the M...

    Authors: Li-Qun Zhang, Erik Rozemuller, Dan Wang, Xiang-Jun Liu and Jian-Ping Cai
    Citation: BMC Medical Genomics 2022 15:58
  34. It is known that long non-coding RNA (lncRNA) PTCSC3 is involved in thyroid cancer and glioma, but its function in osteoporosis is unknown. The aim of our study was to investigate the role of lncRNA PTCSC3 in ...

    Authors: Xingchao Liu, Mingliang Chen, Qinghe Liu, Gang Li, Pei Yang and Guodong Zhang
    Citation: BMC Medical Genomics 2022 15:57
  35. Clinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genotyping platform characteristics. BeadChip arrays, such as the Global Screening Array (GSA), pot...

    Authors: Praveen F. Cherukuri, Melissa M. Soe, David E. Condon, Shubhi Bartaria, Kaitlynn Meis, Shaopeng Gu, Frederick G. Frost, Lindsay M. Fricke, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Robert E. Pyatt, Catherine Hajek, Cornelius F. Boerkoel and Lynn Carmichael
    Citation: BMC Medical Genomics 2022 15:56
  36. Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and ace...

    Authors: Chen Cheng, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren and Xinlin Chen
    Citation: BMC Medical Genomics 2022 15:55
  37. Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variants in 20 Chinese families with FEVR.

    Authors: Handong Dan, Dongdong Wang, Zixu Huang, Qianqian Shi, Miao Zheng, Yuanyuan Xiao and Zongming Song
    Citation: BMC Medical Genomics 2022 15:54
  38. N6-methyladenosine (m6A) RNA regulation was recently reported to be important in carcinogenesis and cancer development. However, the characteristics of m6A modification and its correlations with clinical featu...

    Authors: Tengfei Yin, Lang Zhao and Shukun Yao
    Citation: BMC Medical Genomics 2022 15:53
  39. Pituitary adenomas (PA) are the second most common intracranial tumors and are classified according to hormone they produce, and the transcription factors they express. The majority of PA occur sporadically, a...

    Authors: Keiko Taniguchi-Ponciano, Lesly A. Portocarrero-Ortiz, Gerardo Guinto, Sergio Moreno-Jimenez, Erick Gomez-Apo, Laura Chavez-Macias, Eduardo Peña-Martínez, Gloria Silva-Román, Sandra Vela-Patiño, Jesús Ordoñez-García, Sergio Andonegui-Elguera, Aldo Ferreira-Hermosillo, Claudia Ramirez-Renteria, Etual Espinosa-Cardenas, Ernesto Sosa, Ana Laura Espinosa-de-los-Monteros…
    Citation: BMC Medical Genomics 2022 15:52
  40. Pseudomyxoma peritonei is a rare disease condition mainly caused by primary mucinous tumors from the appendix and rarely from the ovary, such as when mucinous ovarian tumors arise from within a teratoma. Molec...

    Authors: Ayumi Taguchi, Hirofumi Rokutan, Katsutoshi Oda, Michihiro Tanikawa, Saki Tanimoto, Kenbun Sone, Mayuyo Mori, Tetsushi Tsuruga, Shinji Kohsaka, Kenji Tatsuno, Aya Shinozaki-Ushiku, Kiyoshi Miyagawa, Hiroyuki Mano, Hiroyuki Aburatani, Tetsuo Ushiku and Yutaka Osuga
    Citation: BMC Medical Genomics 2022 15:51
  41. The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic ...

    Authors: Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han and Yan Sun
    Citation: BMC Medical Genomics 2022 15:49
  42. Male infertility is a heterogeneous disease which can occur due to spermatogenesis defects. The idiopathic azoospermia and oligospermia are the common cause of male infertility with unknown underlying molecula...

    Authors: Mohammadreza Behvarz, Seyyed Ali Rahmani, Elham Siasi Torbati, Shahla Danaei Mehrabad and Maryam Bikhof Torbati
    Citation: BMC Medical Genomics 2022 15:47
  43. The germline mutations of DDX41, also known as DEAD box RNA helicase 41, have been found in about 1.5% of myeloid neoplasms (MNs). Development of MDS/AML is relatively common in germline DDX41 mutations. However,...

    Authors: Woo Yong Shin, Seug Yun Yoon, Rojin Park, Jung-Ah Kim, Ho Hyun Song, Hae In Bang, Jong-Ho Won and Jieun Kim
    Citation: BMC Medical Genomics 2022 15:46
  44. DNA methylation (DNAm) age metrics have been widely accepted as an epigenetic biomarker for biological aging and disease. The purpose of this study is to assess whether or not individuals carrying Lynch Syndro...

    Authors: Marta Cuadros, Carlos Cano, Sonia Garcia-Rodriguez, José Luis Martín, Antonio Poyatos-Andujar, Francisco Ruiz-Cabello, Susana Pedrinaci, Gema Durán, Manuel Benavides, María Dolores Bautista-Ojeda, Teresa Pereda, Maria Soledad Benitez-Cantos, Pedro Medina, Armando Blanco, Antonio Gonzalez and Paul Lizardi
    Citation: BMC Medical Genomics 2022 15:45
  45. Li–Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one...

    Authors: Hela Sassi, Rym Meddeb, Mohamed Aziz Cherif, Chiraz Nasr, Aouatef Riahi, Samia Hannachi, Neila Belguith and Ridha M’rad
    Citation: BMC Medical Genomics 2022 15:44

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