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  1. Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose ...

    Authors: Jun-Lin Yang, Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang and Zhi-Ping Tan
    Citation: BMC Medical Genomics 2024 17:136
  2. Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, whi...

    Authors: Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui and Yujun Chen
    Citation: BMC Medical Genomics 2024 17:135
  3. Acute myocardial infarction (AMI) and diabetic nephropathy (DN) are common clinical co-morbidities, but they are challenging to manage and have poor prognoses. There is no research on the bioinformatics mechan...

    Authors: Bo Li, Xu Zhao, Wanrun Xie, Zhenzhen Hong, Ye Cao, Yi Zhang and Yan Ding
    Citation: BMC Medical Genomics 2024 17:134
  4. Parkinson’s disease (PD) is a progressive neurodegenerative disease with increasing prevalence. Effective diagnostic markers and therapeutic methods are still lacking. Exploring key molecular markers and mecha...

    Authors: Zhenchao Huang, En’peng Song, Zhijie Chen, Peng Yu, Weiwen Chen and Huiqin Lin
    Citation: BMC Medical Genomics 2024 17:133
  5. Polygenic risk scores (PRS) quantify an individual’s genetic predisposition for different traits and are expected to play an increasingly important role in personalized medicine. A crucial challenge in clinica...

    Authors: Christian Staerk, Hannah Klinkhammer, Tobias Wistuba, Carlo Maj and Andreas Mayr
    Citation: BMC Medical Genomics 2024 17:132
  6. Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in acc...

    Authors: Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov and Gennady T. Sukhikh
    Citation: BMC Medical Genomics 2024 17:130
  7. The parallel rise in obesity and male infertility in modern societies necessitates the identification of susceptibility genes underlying these interconnected health issues. In our study, we conducted a compreh...

    Authors: Melika Jahangir, Majid Nazari, Emad Babakhanzadeh and Saeed Dehghan Manshadi
    Citation: BMC Medical Genomics 2024 17:128
  8. Colorectal cancer (CRC) is prone to metastasis and recurrence after surgery, which is one of the main causes for its poor treatment and prognosis. Therefore, it is essential to identify biomarkers associated w...

    Authors: Fang Qian, Qiang Li, Huidan Chang, Kai Wei, Xiaoyi Chen, Tao Huang and Yixue Li
    Citation: BMC Medical Genomics 2024 17:127
  9. Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS ...

    Authors: Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki and Samira Kalayinia
    Citation: BMC Medical Genomics 2024 17:126
  10. Naegleria fowleri, also known as brain-earing amoeba, causes severe and rapidly fatal CNS infection in humans called primary amebic meningoencephalitis (PAM). The DNA from the N. fowleri clinical isolate was sequ...

    Authors: Muhammad Aurongzeb, Muhammad Talha Hafiz Malik, Muhammad Jahanzaib, Syed Shah Hassan, Yasmeen Rashid, Tariq Aziz and Metab Alharbi
    Citation: BMC Medical Genomics 2024 17:125
  11. Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGe...

    Authors: Ao Wang, Jiamei Wu, Xiaohui Yuan, Jianping Liu and Changli Lu
    Citation: BMC Medical Genomics 2024 17:124
  12. Depression is a common chronic debilitating disease with a heavy social burden. single nucleotide polymorphisms (SNPs) can affect the function of microRNAs (miRNAs), which is in turn associated with neurologic...

    Authors: Peng Liang, Xue Yang, Rui Long, Yue Li, Ziling Wang, Pingliang Yang and Yundan Liang
    Citation: BMC Medical Genomics 2024 17:123
  13. There is increasing evidence that type 2 diabetes mellitus (T2DM) is an independent risk factor for the occur of tendinopathy. Therefore, this study is the first to explore the dynamic changes of the “gene pro...

    Authors: Kuishuai Xu, Liang Zhang, Tianrui Wang, Tengbo Yu, Xia Zhao and Yingze Zhang
    Citation: BMC Medical Genomics 2024 17:122
  14. Kidney renal papillary cell carcinoma (KIRP) is the second most prevalent malignant cancer originating from the renal epithelium. Nowadays, cancer stem cells and stemness-related genes (SRGs) are revealed to p...

    Authors: Yifan Liu, Yuntao Yao, Yu Zhang, Chengdang Xu, Tianyue Yang, Mingyu Qu, Bingnan Lu, Xu Song, Xiuwu Pan, Wang Zhou and Xingang Cui
    Citation: BMC Medical Genomics 2024 17:121
  15. Sepsis ranks among the most formidable clinical challenges, characterized by exorbitant treatment costs and substantial demands on healthcare resources. Mitochondrial dysfunction emerges as a pivotal risk fact...

    Authors: Shilin Li, Xiang Li, Sishi Jiang, Chenglin Wang and Yingchun Hu
    Citation: BMC Medical Genomics 2024 17:120
  16. Observational studies that reveal an association between periodontitis (PD) and ankylosing spondylitis (AS) exist. However, observational research is prone to reverse causality and confounding factors, which m...

    Authors: Chong Han, Dongchao Wu, Feiyan Yu, Qianqian Wang, Yang Yang, Yi Li, Rao Qin, Yue Chen, Linkun Xu and Dongning He
    Citation: BMC Medical Genomics 2024 17:118
  17. Colorectal cancer (CRC) is one of the significant global health concerns with an increase in cases. Regular screening tests are crucial for early detection as it is often asymptomatic in the initial stages. Li...

    Authors: Mehrdad Shavali, Arash Moradi, Mohammad Tahmaseb, Kamal Mohammadian and Shahla Mohammad Ganji
    Citation: BMC Medical Genomics 2024 17:117
  18. Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is o...

    Authors: Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong and Jing Zhang
    Citation: BMC Medical Genomics 2024 17:116
  19. The genetic basis of type 2 diabetes (T2D) is under-investigated in the Middle East, despite the rapidly growing disease prevalence. We aimed to define the genetic determinants of T2D in Qatar.

    Authors: Asma A Elashi, Salman M Toor, Umm-Kulthum Ismail Umlai, Yasser A Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra and Omar M E Albagha
    Citation: BMC Medical Genomics 2024 17:115

    The Correction to this article has been published in BMC Medical Genomics 2024 17:131

  20. The risk of intracranial aneurysms (IAs) development and rupture is significantly higher in patients with periodontitis (PD), suggesting an association between the two. However, the specific mechanisms of asso...

    Authors: Yao Chen, Jian-huang Huang, Yuan-bao Kang, Zheng-jian Yao and Jian-hua Song
    Citation: BMC Medical Genomics 2024 17:114
  21. Metabolic syndrome is one of the major public-health challenges, affecting one-quarter of the world population. Fatty acid quality indices are novel determinants of this disease and their interactions with gen...

    Authors: Niloufar Rasaei, Elnaz Daneshzad, Alireza Khadem, Fatemeh Gholami, Mahsa Samadi and Khadijeh Mirzaei
    Citation: BMC Medical Genomics 2024 17:113
  22. The Warburg effect is a hallmark characteristic of colorectal cancer (CRC). Despite extensive research, the role of long non-coding RNAs (lncRNAs) in influencing the Warburg effect remains incompletely underst...

    Authors: Rui Mao, Chenxin Xu, Quanzheng Zhang, Zheng Wang, Yanjun Liu, Yurui Peng and Ming Li
    Citation: BMC Medical Genomics 2024 17:112
  23. Escherichia coli is known to cause about 2 million deaths annually of which diarrhea infection is leading and typically occurs in children under 5 years old. Although Africa is the most affected region there is l...

    Authors: Livin E. Kanje, Happiness Kumburu, Davis Kuchaka, Mariana Shayo, Masoud A. Juma, Patrick Kimu, Melkiory Beti, Marco van Zwetselaar, Boaz Wadugu, Blandina T. Mmbaga, Sixbert Isdory Mkumbaye and Tolbert Sonda
    Citation: BMC Medical Genomics 2024 17:110
  24. This study aimed to explore the clinical significance of immunogenic cell death (ICD) in acute myeloid leukemia (AML) and its relationship with the tumor immune microenvironment characteristics. It also aimed ...

    Authors: Yongyu Chen, Xue Qiu and Rongrong Liu
    Citation: BMC Medical Genomics 2024 17:107
  25. Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. T...

    Authors: Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen and Meng-Che Tsai
    Citation: BMC Medical Genomics 2024 17:106
  26. Research on the fatty acid metabolism related gene SLC27A2 is currently mainly focused on solid tumors, and its mechanism of action in hematological tumors has not been reported.

    Authors: Yi Wang, Xue Chen, Yun Li, Zhixue Zhang, Leiming Xia, Jiang Jiang, Yuqin Chai, Ziming Wang, Yu Wan, Tongyu Li, Fengbo Jin and Hongxia Li
    Citation: BMC Medical Genomics 2024 17:105
  27. Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the sk...

    Authors: Yuanyuan Li, Yuxue Chen, Yang Sun, Shouxin Li, Lingli Dong, Zongzhe Li and Guifen Shen
    Citation: BMC Medical Genomics 2024 17:104
  28. Hepatocellular carcinoma represents a significant global burden in terms of cancer-related mortality, posing a substantial risk to human health. Despite the availability of various treatment modalities, the ov...

    Authors: Yujian He, Wei Qi, Xiaoli Xie and Huiqing Jiang
    Citation: BMC Medical Genomics 2024 17:103
  29. Nonalcoholic fatty liver disease (NAFLD) is on the rise globally, and past research suggests a significant association with various blood cell components. Our goal is to explore the potential correlation betwe...

    Authors: Nan Zhu, Xiaoliang Wang, Huiting Zhu and Yue Zheng
    Citation: BMC Medical Genomics 2024 17:102
  30. Allopurinol has been causing substantial morbidity and mortality particularly in Asian population by producing cutaneous adverse drug reactions (cADRs). Nonetheless, there are no data describing whether other ...

    Authors: Gaidganok Sornsamdang, Patompong Satapornpong, Pimonpan Jinda, Thawinee Jantararoungtong, Napatrupron Koomdee, Therdpong Tempark, Jettanong Klaewsongkram, Ticha Rerkpattanapipat, Pawinee Rerknimitr, Papapit Tuchinda, Leena Chularojanamontri, Napatra Tovanabutra, Kumutnart Chanprapaph, Wareeporn Disphanurat, Panlop Chakkavittumrong, Chutika Srisuttiyakorn…
    Citation: BMC Medical Genomics 2024 17:101
  31. This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presen...

    Authors: Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi and Benedetto Falsini
    Citation: BMC Medical Genomics 2024 17:100
  32. Osteoporosis (OP) is one of the most common bone diseases worldwide, characterized by low bone mineral density and susceptibility to pathological fractures, especially in postmenopausal women and elderly men. ...

    Authors: Shi-Wei Long, Shi-Hong Li, Jian Li, Yang He, Bo Tan, Hao-Han Jing, Wei Zheng and Juan Wu
    Citation: BMC Medical Genomics 2024 17:99
  33. Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic bac...

    Authors: Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos and Artúr Beke
    Citation: BMC Medical Genomics 2024 17:98
  34. The treatment of lung adenocarcinoma is difficult due to the limited therapeutic options. Cancer-associated fibroblasts play an important role in the development of cancers. This study aimed to identify a prom...

    Authors: Haosheng Zheng, Jian Tan, Fei Qin, Yuzhen Zheng, Xingping Yang, Xianyu Qin and Hongying Liao
    Citation: BMC Medical Genomics 2024 17:97
  35. The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing ...

    Authors: Fang Fu, Xin Yang, Ru Li, Yingsi Li, Hang Zhou, Ken Cheng, Ruibin Huang, You Wang, Fei Guo, Lina Zhang, Min Pan, Jin Han, Li Zhen, Lushan Li, Tingying Lei, Dongzhi Li…
    Citation: BMC Medical Genomics 2024 17:96
  36. Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in ...

    Authors: Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao and Nan-Kai Wang
    Citation: BMC Medical Genomics 2024 17:94
  37. Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some p...

    Authors: Zhonghua Lu, Yan Tang, Ruxue Qin, Ziyu Han, Hu Chen, Lijun Cao, Pinjie Zhang, Xiang Yang, Weili Yu, Na Cheng and Yun Sun
    Citation: BMC Medical Genomics 2024 17:93
  38. Repressor element 1 (RE1) silencing transcription factor (REST) is a transcriptional repressor abundantly expressed in aging human brains. It is known to regulate genes associated with oxidative stress, inflam...

    Authors: Jaejoon Choi and Eunjung Alice Lee
    Citation: BMC Medical Genomics 2024 17(Suppl 1):92

    This article is part of a Supplement: Volume 17 Supplement 1

  39. Dietary patterns could have a notable role in shaping gut microbiota composition. Evidence confirms the positive impact of the Mediterranean diet (MD), as one of the most studied healthy dietary patterns, on t...

    Authors: Armin Khavandegar, Ali Heidarzadeh, Pooneh Angoorani, Shirin Hasani-Ranjbar, Hanieh-Sadat Ejtahed, Bagher Larijani and Mostafa Qorbani
    Citation: BMC Medical Genomics 2024 17:91
  40. Liver cancer ranks sixth in incidence and third in mortality globally and hepatocellular carcinoma (HCC) accounts for 90% of it. Hypoxia, glycolysis, and lactate metabolism have been found to regulate the prog...

    Authors: Xiaodan Qin, Huiling Sun, Shangshang Hu, Yuqin Pan and Shukui Wang
    Citation: BMC Medical Genomics 2024 17:88
  41. This study aims to screen the differentially expressed long non-coding RNAs (DELncRNAs) related to the regulation of epithelial-mesenchymal transition (EMT) in hypospadias in mesenchymal stem cell-derived exos...

    Authors: Mengmeng Chang, Hongjie Gao, Yingying Li, Chen Ding, Zhiyi Lu, Ding Li, Fan Huang, Jiawei Chen and Fengyin Sun
    Citation: BMC Medical Genomics 2024 17:87
  42. Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilia...

    Authors: Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski and Zeynep Coban-Akdemir
    Citation: BMC Medical Genomics 2024 17:85

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