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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. The application of long-read sequencing using the Oxford Nanopore Technologies (ONT) MinION sequencer is getting more diverse in the medical field. Having a high sequencing error of ONT and limited throughput ...

    Authors: Amy Wing-Sze Leung, Henry Chi-Ming Leung, Chak-Lim Wong, Zhen-Xian Zheng, Wui-Wang Lui, Ho-Ming Luk, Ivan Fai-Man Lo, Ruibang Luo and Tak-Wah Lam
    Citation: BMC Medical Genomics 2022 15:43
  13. Atherosclerosis is one of the major causes of cardiovascular disease. It is characterized by the accumulation of atherosclerotic plaque in arteries under the influence of inflammatory responses, proliferation ...

    Authors: Sheuli Kangsa Banik, Somorita Baishya, Anupam Das Talukdar and Manabendra Dutta Choudhury
    Citation: BMC Medical Genomics 2022 15:42
  14. We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant ...

    Authors: Mariam Dessay, Emile Couture, Halim Maaroufi, Frédéric Fournier, Edith Gagnon, Arnaud Droit, Jacques P. Brown and Laëtitia Michou
    Citation: BMC Medical Genomics 2022 15:41
  15. Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of...

    Authors: Hairui Sun, Siyao Zhang, Jingyi Wang, Xiaoxue Zhou, Hongjia Zhang, Huixia Yang and Yihua He
    Citation: BMC Medical Genomics 2022 15:40
  16. Recently, an increasing number of studies have reported that sperm-associated antigen (SPAG) proteins play crucial roles in solid tumorigenesis, and may serve as potentially helpful biomarkers for cancer diagn...

    Authors: Yu Gu, Ming-qiang Chu, Zi-jun Xu, Qian Yuan, Ting-juan Zhang, Jiang Lin and Jing-dong Zhou
    Citation: BMC Medical Genomics 2022 15:38
  17. Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associat...

    Authors: Peng Tu, Hairui Sun, Xiaohang Zhang, Qian Ran, Yihua He and Suzhen Ran
    Citation: BMC Medical Genomics 2022 15:36
  18. Hepatocellular carcinoma (HCC) is prevalent worldwide with a high mortality rate. Prognosis prediction is crucial for improving HCC patient outcomes, but effective tools are still lacking. Characteristics rela...

    Authors: Wei Chen, Hao Wang, Tong Li, Te Liu, Wenjing Yang, Anli Jin, Lin Ding, Chunyan Zhang, Baishen Pan, Wei Guo and Beili Wang
    Citation: BMC Medical Genomics 2022 15:34
  19. To analyze chromosomal status in reserved multiple displacement amplification (MDA) products of embryos that result in miscarriages or live births.

    Authors: Guoxia Yang, Yan Xu, Yanhong Zeng, Jing Guo, Jiafu Pan, Canquan Zhou and Yanwen Xu
    Citation: BMC Medical Genomics 2022 15:35
  20. Precision medicine has increased the accuracy of cancer diagnosis and treatment, especially in the era of cancer immunotherapy. Despite recent advances in cancer immunotherapy, the overall survival rate of adv...

    Authors: Chang Li, Chen Tian, Yulan Zeng, Jinyan Liang, Qifan Yang, Feifei Gu, Yue Hu and Li Liu
    Citation: BMC Medical Genomics 2022 15:33
  21. The use of whole-genome sequencing in clinical practice has revealed variable genomic characteristics across cancer types, one of which is whole-genome doubling (WGD), which describes the duplication of a comp...

    Authors: Yuto Baba, Takeo Kosaka, Hiroaki Kobayashi, Kohei Nakamura, Shuji Mikami, Hiroshi Nishihara, Makoto Nakanishi and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:32
  22. Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of...

    Authors: Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim and S. Mohsen Hosseini
    Citation: BMC Medical Genomics 2022 15:31
  23. Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignancy associated with a poor prognosis. High-throughput disease-related-gene expression data provide valuable information on gene interaction, which con...

    Authors: Zahra Shokati Eshkiki, Nasibeh Khayer, Atefeh Talebi, Reza Karbalaei and Abolfazl Akbari
    Citation: BMC Medical Genomics 2022 15:30
  24. Observational studies have suggested that obstructive sleep apnea (OSA) is in relation to atrial fibrillation (AF); however, these studies might be confounded and whether the relationship is causal remains unc...

    Authors: Lu Chen, Xingang Sun, Yuxian He, Yunlong Lu and Liangrong Zheng
    Citation: BMC Medical Genomics 2022 15:28
  25. Linkeropathies refers to a series of extremely rare hereditary connective tissue diseases affected by various glycosyltransferases in the biosynthesis of proteoglycans. We report for the first time two heteroz...

    Authors: Ying Li, Chuangwen Zhang, Hongyu Zhang, Weiqi Feng, Qiuji Wang and Ruixin Fan
    Citation: BMC Medical Genomics 2022 15:27
  26. Targeted Next Generation Sequencing is a common and powerful approach used in both clinical and research settings. However, at present, a large fraction of the acquired genetic information is not used since pa...

    Authors: M. Tarozzi, A. Bartoletti-Stella, D. Dall’Olio, T. Matteuzzi, S. Baiardi, P. Parchi, G. Castellani and S. Capellari
    Citation: BMC Medical Genomics 2022 15:26
  27. Mutations in the telomerase reverse transcriptase (TERT) promoter region have been proposed as novel mechanisms for the transcriptional activation of telomerase. Two recurrent mutations in the TERT promoter, C...

    Authors: So Young Kang, Deok Geun Kim, Hyunjin Kim, Yoon Ah Cho, Sang Yun Ha, Ghee Young Kwon, Kee-Taek Jang and Kyoung-Mee Kim
    Citation: BMC Medical Genomics 2022 15:25
  28. Pyroptosis can not only inhibit the occurrence and development of tumors but also develop a microenvironment conducive to cancer growth. However, pyroptosis research in prostate cancer (PCa) has rarely been re...

    Authors: Ding Hu, Qingfei Cao, Ming Tong, Chundong Ji, Zizhi Li, Weichao Huang, Yanyang Jin, Guangquan Tong, Yutao Wang, Pengfei Li and Huashan Zhang
    Citation: BMC Medical Genomics 2022 15:24
  29. Hydroxychloroquine (HCQ) is a cornerstone therapy for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). This study aimed to investigate the relationship of cytochrome P450 (CYP450) gene polymor...

    Authors: Beibei Gao, Tingfei Tan, Xi Cao, Menglu Pan, Chunlan Yang, Jianxiong Wang, Zongwen Shuai and Quan Xia
    Citation: BMC Medical Genomics 2022 15:23
  30. Previous studies on the relationship between ACE I/D, ACE2 G8790A and CYP11B2-344T/C gene polymorphisms and essential hypertension (EH) were inconsistent. Moreover, few studies have reported the combined effec...

    Authors: Xiaohong Zhang, Ying Wang, Yao Zheng, Juxiang Yuan, Junwang Tong, Jingya Xu, Qinglin Li, Peishuai Li, Shoufang Jiang, Zhaoyang Wang, Feng Chai and Xiangwen Li
    Citation: BMC Medical Genomics 2022 15:22
  31. Acute lymphoblastic leukemia is the most common type of cancer in children. Most often it affects the age group between 2 and 5 years of age. Studies have shown an improvement in general survivability, more th...

    Authors: Aleksandra Mroczkowska, Bożena Jaźwiec, Justyna Urbańska-Rakus, Sylwia Szymanowska, Anna Tessmann, Sonia Pająk, Katarzyna Machnik, Olga Haus and Tomasz Wróbel
    Citation: BMC Medical Genomics 2022 15:20
  32. SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without men...

    Authors: Caiqi Du, Feiya Wang, Zhuoguang Li, Mini Zhang, Xiao Yu, Yan Liang and Xiaoping Luo
    Citation: BMC Medical Genomics 2022 15:19
  33. Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which t...

    Authors: Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh and Sima Mansoori Derakhshan
    Citation: BMC Medical Genomics 2022 15:18
  34. Although differential expression of genes is apparent during the adipogenic/osteogenic differentiation of marrow mesenchymal stem cells (MSCs), it is not known whether this is associated with changes in chromo...

    Authors: Jianyun Liu, Lijun Gan, Baichen Ma, Shan He, Ping Wu, Huiming Li and Jianjun Xiong
    Citation: BMC Medical Genomics 2022 15:17
  35. Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific p...

    Authors: LiFen Zhu, DingYa Cao, Min Chen, Huimin Zhang, XiaoFang Sun and WeiQiang Liu
    Citation: BMC Medical Genomics 2022 15:16
  36. Determining the prognosis of lung adenocarcinoma (LUAD) is challenging. The present study aimed to identify prognostic ferroptosis-related long noncoding RNAs (FRLs) and construct a prognostic model. Moreover,...

    Authors: Chen Gao, Ning Kong, Fan Zhang, Tianyu Tang, Jiaying Li, Honglei Ding, Zhichao Sun, Linyu Wu and Maosheng Xu
    Citation: BMC Medical Genomics 2022 15:15
  37. Cerebral palsy (CP) is a spectrum of non-progressive motor disorders caused by brain injury during fetal or postnatal periods. Current diagnosis of CP mainly relies on neuroimaging and motor assessment. Here, ...

    Authors: Yuanyuan Hu, Xuzhao Bian, Chao Wu, Yan Wang, Yang Wu, Xiaoqin Gu, Suyan Zhuo and Shiquan Sun
    Citation: BMC Medical Genomics 2022 15:13
  38. Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic informa...

    Authors: Xiaohua Jin, Shasha Huang, Lisha An, Chuan Zhang, Pu Dai, Huafang Gao and Xu Ma
    Citation: BMC Medical Genomics 2022 15:12
  39. Authors: Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah and Babu Rao Vundinti
    Citation: BMC Medical Genomics 2022 15:11

    The original article was published in BMC Medical Genomics 2022 15:2

  40. The Philadelphia (Ph)-negative myeloproliferative neoplasms (MPNs), namely essential thrombocythaemia (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF), are a group of chronic clonal haematopoietic...

    Authors: Jaymi Tan, Yock Ping Chow, Norziha Zainul Abidin, Kian Meng Chang, Veena Selvaratnam, Nor Rafeah Tumian, Yang Ming Poh, Abhi Veerakumarasivam, Michael Arthur Laffan and Chieh Lee Wong
    Citation: BMC Medical Genomics 2022 15:10
  41. Pain is a complex polygenic trait whose common genetic underpinnings are relatively ill-defined due in part to challenges in measuring pain as a phenotype. Pain sensitivity can be quantified, but this is diffi...

    Authors: Aidan P. Nickerson, Laura J. Corbin, Nicholas J. Timpson, Keith Phillips, Anthony E. Pickering and James P. Dunham
    Citation: BMC Medical Genomics 2022 15:9
  42. Colorectal cancer (CRC) is one of the common cancers with a high mortality rate worldwide. In Iran, there has been a trend of increased incidence of colorectal cancer in the last three decades that necessitate...

    Authors: Maryam Alidoust, Leila Hamzehzadeh, Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Mohammad Amin Kerachian, Azar Fanipakdel, Seyed Amir Aledavood, Abolghasem Allahyari, Alireza Bari, Hooman Moosanen Mozaffari, Ladan Goshayeshi and Alireza Pasdar
    Citation: BMC Medical Genomics 2022 15:8
  43. Kidney stone disease (KSD) is a multifactorial disease involving both environmental and genetic factors, whose pathogenesis remains unclear. This study aims to explore the hub genes related to stone formation ...

    Authors: Sen-Yuan Hong, Qi-Dong Xia, Jin-Zhou Xu, Chen-Qian Liu, Jian-Xuan Sun, Yang Xun and Shao-Gang Wang
    Citation: BMC Medical Genomics 2022 15:7

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