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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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

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

  13. Concurrent variation in adiposity and inflammation suggests potential shared functional pathways and pleiotropic disease underpinning. Yet, exploration of pleiotropy in the context of adiposity-inflammation ha...

    Authors: Mohammad Yaser Anwar, Antoine R. Baldassari, Hannah G. Polikowsky, Colleen M. Sitlani, Heather M. Highland, Nathalie Chami, Hung-Hsin Chen, Mariaelisa Graff, Annie Green Howard, Su Yon Jung, Lauren E. Petty, Zhe Wang, Wanying Zhu, Steven Buyske, Iona Cheng, Robert Kaplan…
    Citation: BMC Medical Genomics 2022 15:192
  14. Patient-derived xenograft (PDX) models were established to reproduce the clinical situation of original cancers and have increasingly been applied to preclinical cancer research. Our study was designed to esta...

    Authors: Shuangwei Zou, Miaomiao Ye, Jian-an Zhang, Huihui Ji, Yijie Chen and Xueqiong Zhu
    Citation: BMC Medical Genomics 2022 15:191
  15. Tumor mutation burden (TMB) is a key characteristic used in a tumor-type agnostic context to inform the use of immune checkpoint inhibitors (ICI). Accurate and consistent measurement of TMB is crucial as it ca...

    Authors: Emma Titmuss, Richard D. Corbett, Scott Davidson, Sanna Abbasi, Laura M. Williamson, Erin D. Pleasance, Adam Shlien, Daniel J. Renouf, Steven J. M. Jones, Janessa Laskin and Marco A. Marra
    Citation: BMC Medical Genomics 2022 15:190
  16. Familial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic function. Fifty-one DCM-causative genes have been reported, most of which a...

    Authors: Kai Luo, Chenqing Zheng, Rong Luo, Xin Cao, Huajun Sun, Huihui Ma, Jichang Huang, Xu Yang, Xiushan Wu and Xiaoping Li
    Citation: BMC Medical Genomics 2022 15:189
  17. 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males sh...

    Authors: Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu and Peng Lin
    Citation: BMC Medical Genomics 2022 15:188
  18. Lung cancer is a high-incidence cancer, and it is also the most common cause of cancer death worldwide. 80–85% of lung cancer cases can be classified as non-small cell lung cancer (NSCLC).

    Authors: Huan Ding, Li Shi, Zhuo Chen, Yi Lu, Zhiyu Tian, Hongyu Xiao, Xiaojing Deng, Peiyi Chen and Yue Zhang
    Citation: BMC Medical Genomics 2022 15:187
  19. Several predisposing factors for diabetes mellitus have been identified, including cluster determinant 36 (CD36) receptor expression. We aimed to determine the effects of CD36 gene polymorphisms and hypermethylat...

    Authors: Maïmouna Touré, Abdoulaye Samb, Mbaye Sène, Souleymane Thiam, Cheikh A. B. Mané, Abdou K. Sow, Awa Ba-Diop, Modou O. Kane, Mamadou Sarr, Abdoulaye Ba and Lamine Gueye
    Citation: BMC Medical Genomics 2022 15:186
  20. Intrahepatic cholangiocarcinoma (ICC) is a malignant tumor, which poses a serious threat to human health. Histone 3 lysine 9 trimethylation (H3K9me3) is a post-translational modification involved in regulating...

    Authors: Sheng Hu, Xuejun Wang, Tao Wang, Lianmin Wang, Lixin Liu, Wenjun Ren, Xiaoyong Liu, Weihan Zhang, Weiran Liao, Zhoujun Liao, Renchao Zou and Xiaowen Zhang
    Citation: BMC Medical Genomics 2022 15:185
  21. Thyroid cancer (TC) is the most common endocrine malignancy worldwide. The incidence of TC is high and increasing worldwide due to continuous improvements in diagnostic technology. Therefore, identifying accur...

    Authors: Bo Song, Lijun Tian, Fan Zhang, Zheyu Lin, Boshen Gong, Tingting Liu and Weiping Teng
    Citation: BMC Medical Genomics 2022 15:183
  22. PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epilepti...

    Authors: Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano and Alberto Verrotti
    Citation: BMC Medical Genomics 2022 15:181
  23. Serine and arginine-rich splicing factor 9 (SRSF9) has been linked to the occurrence and progression of various cancers; however, its effects and mechanism of action hepatocellular carcinoma (HCC) have not been r...

    Authors: Guoshun Zhang, Bin Liu, Hua Shang, Guikai Wu, Diyang Wu, Liuqing Wang, Shengnan Li, Zhiyuan Wang, Suying Wang and Juxiang Yuan
    Citation: BMC Medical Genomics 2022 15:180
  24. Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormo...

    Authors: Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao and Daxing Tang
    Citation: BMC Medical Genomics 2022 15:178
  25. Increasing evidence indicates that the immune microenvironment plays a key role in the genesis and progression of colorectal cancer (CRC). This study aimed to establish an immune-related gene (IRG) signature a...

    Authors: Shuwei Wang, Liang Cheng, Fa Jing and Gan Li
    Citation: BMC Medical Genomics 2022 15:177
  26. Recurrent patellar dislocation is the result of anatomical alignment and imbalance of restraint of bone and soft tissue. We investigate the anatomical characteristics of the knee joint in a family of patients ...

    Authors: Qi-hao Zhang, Yan Zhang, Rui-xuan He, Han-ming Guo and Xin-guang Wang
    Citation: BMC Medical Genomics 2022 15:176
  27. Sulfur mustard (SM) is an alkylating and forming chemical that was widely used by Iraqi forces during the Iran–Iraq wars. One of the target organs of SM is the skin. Understanding the mechanisms involved in th...

    Authors: Vahid Jamshidi, B. Fatemeh Nobakht M. Gh, Shahram Parvin, Hasan Bagheri, Mostafa Ghanei, Alireza Shahriary, Seyyed Masoud Davoudi and Masoud Arabfard
    Citation: BMC Medical Genomics 2022 15:175
  28. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familia...

    Authors: Fanxi Xu, Sen Huang, Xu-Ying Li, Jianing Lin, Xiuli Feng, Shu Xie, Zhanjun Wang, Xian Li, Junge Zhu, Hong Lai, Yanming Xu, Xusheng Huang, Xiaoli Yao and Chaodong Wang
    Citation: BMC Medical Genomics 2022 15:173
  29. Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been ident...

    Authors: Lihua Ye, Li Wang, Kexin Peng, Ou Fang, Zhen Tian, Caihua Li, Xiaopeng Fu, Qingdong Chen, Jia Chen, Jing Luan, Zhenghua Zhang and Qiaoan Zhang
    Citation: BMC Medical Genomics 2022 15:172
  30. Acute lymphoblastic leukemia is the most prevailing pediatric hematologic malignancy, and various factors such as environmental exposures and genetic variation affect ALL susceptibility and patients outcome. A...

    Authors: Mahla Sattarzadeh Bardsiri, Shahrzad Zehtab, Najibe Karami, Alireza Farsinejad, Mohsen Ehsan and Ahmad Fatemi
    Citation: BMC Medical Genomics 2022 15:171
  31. Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic biotechnologies (e.g., next-generation sequencing panels) facilitating the discovery...

    Authors: Olivia J. Veatch, Jacob Steinle, Waheeda A. Hossain and Merlin G. Butler
    Citation: BMC Medical Genomics 2022 15:169
  32. Alzheimer’s disease (AD) is a complex neurodegenerative disorder and the most common type of dementia. AD is characterized by a decline of cognitive function and brain atrophy, and is highly heritable with est...

    Authors: Mansu Kim, Ruiming Wu, Xiaohui Yao, Andrew J. Saykin, Jason H. Moore and Li Shen
    Citation: BMC Medical Genomics 2022 15(Suppl 2):168

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

  33. Next-generation sequencing provides comprehensive information about individuals’ genetic makeup and is commonplace in precision oncology practice. Due to the heterogeneity of individual patient’s disease condi...

    Authors: Yiqing Zhao, Anastasios Dimou, Feichen Shen, Nansu Zong, Jaime I. Davila, Hongfang Liu and Chen Wang
    Citation: BMC Medical Genomics 2022 15:167
  34. Hepatocellular carcinoma (HCC) is a cancer with a poor prognosis. Many recent studies have suggested that pyroptosis is important in tumour progression. However, the role of pyroptosis-related genes (PRGs) in ...

    Authors: Sainan Duan, Jianying Gao, Weiming Lou, Yize Zhang, Ying Deng, Cong Wang, Haiyue Huang, Hui Xu, Sixuan Guo, Shuhui Lai, Feiyang Xi, Zhangwang Li, Libin Deng and Yuanbin Zhong
    Citation: BMC Medical Genomics 2022 15:166
  35. X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from on...

    Authors: Hamza Chouk, Sarra Saad, Sarra Dimassi, Nadia Ghariani Fetoui, Ayda Bennour, Rima Gammoudi, Haifa Elmabrouk, Ali Saad, Mohamed Denguezli and Dorra H’mida
    Citation: BMC Medical Genomics 2022 15:165
  36. Studies have shown that long noncoding RNAs and N6-methyladenosine play important roles in gastric cancer. The purpose of this study was to determine the correlation and prognostic value of m6A-related lncRNAs...

    Authors: Jiarong Huang, Jinxuan Song, xiangyu Li, Shuangfei Liu, Wentao Huang, Ziyi Shen, Yan Cheng, Shien Kou, Zhenguo Gao, Yunhong Tian and Jiani Hu
    Citation: BMC Medical Genomics 2022 15:164
  37. The most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at h...

    Authors: Qiong Li, Shujuan Wang, Pengfei Liang, Wei Li, Jian Wang, Bei Fan, Yang Yang, Xiaogang An, Jun Chen and Dingjun Zha
    Citation: BMC Medical Genomics 2022 15:163
  38. Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑li...

    Authors: Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang and Xiuli Zhao
    Citation: BMC Medical Genomics 2022 15:161
  39. Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomat...

    Authors: Kirsten M. Farncombe, Emily Thain, Carolina Barnett-Tapia, Hamid Sadeghian and Raymond H. Kim
    Citation: BMC Medical Genomics 2022 15:160
  40. Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin ...

    Authors: Yi Hua, Di Cui, Lin Han, Lu Xu, Shanshan Mao, Cuiwei Yang, Feng Gao and Zhefeng Yuan
    Citation: BMC Medical Genomics 2022 15:159
  41. Tumor protein p63 is an important transcription factor regulating epithelial morphogenesis. Variants associated with the TP63 gene are known to cause multiple disorders. In this study, we determined the genetic c...

    Authors: Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin and Lizhou Sun
    Citation: BMC Medical Genomics 2022 15:157

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