Skip to main content

Articles

Page 17 of 47

  1. Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigre...

    Authors: Yan Zhang, Yiyi Shang, Luo Liu, Xiaoxue Ding, Haiyan Wu, Lijiang Li and Mingjie Pang
    Citation: BMC Medical Genomics 2021 14:196
  2. Crohn’s disease (CD) is a heritable chronic inflammatory disorder. Non-coding RNAs (ncRNAs) play an important role in epigenetic regulation by affecting gene expression, but can also directly affect protein fu...

    Authors: Ranjit Pelia, Suresh Venkateswaran, Jason D. Matthews, Yael Haberman, David J. Cutler, Jeffrey S. Hyams, Lee A. Denson and Subra Kugathasan
    Citation: BMC Medical Genomics 2021 14:194
  3. Age-related hearing impairment (ARHI) has attracted increasing attention recently. It is caused by genetic and environmental factors. A number of ARHI-related genes have been found. This study aimed to detect ...

    Authors: Wanxue Song, Hainan Cao, Dongfeng Zhang, Haiyan Xu, Qianqian Zhang, Zhaoguo Wang, Suyun Li, Weijing Wang, Wenchao Hu, Bingling Wang and Haiping Duan
    Citation: BMC Medical Genomics 2021 14:193
  4. Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional case...

    Authors: Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang and Prabhakar Kedar
    Citation: BMC Medical Genomics 2021 14:191
  5. Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which pl...

    Authors: Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian and Akio Koizumi
    Citation: BMC Medical Genomics 2021 14:190
  6. SMARCAs, belonged to SWI/SNF2 subfamilies, are critical to cellular processes due to their modulation of chromatin remodeling processes. Although SMARCAs are implicated in the tumor progression of various canc...

    Authors: Feng-Jiao Wang, Yan-Hua Jing, Chien-Shan Cheng, Zhang-Qi Cao, Ju-Ying Jiao and Zhen Chen
    Citation: BMC Medical Genomics 2021 14:189
  7. India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.

    Authors: Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad and Govindasamy Kumaramanickavel
    Citation: BMC Medical Genomics 2021 14:188
  8. Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While v...

    Authors: Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery and Roland Tomb
    Citation: BMC Medical Genomics 2021 14:187
  9. Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotyp...

    Authors: Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster and Joseph J. Shen
    Citation: BMC Medical Genomics 2021 14:186
  10. Benign breast disease (BBD) is a risk factor for breast cancer (BC); however, little is known about the genetic alterations present at the time of BBD diagnosis and how these relate to risk of incident BC.

    Authors: Stacey J. Winham, Chen Wang, Ethan P. Heinzen, Aditya Bhagwate, Yuanhang Liu, Samantha J. McDonough, Melody L. Stallings-Mann, Marlene H. Frost, Robert A. Vierkant, Lori A. Denison, Jodi M. Carter, Mark E. Sherman, Derek C. Radisky, Amy C. Degnim and Julie M. Cunningham
    Citation: BMC Medical Genomics 2021 14:185
  11. To study the accumulation of MS-risk resulting from different combinations of MS-associated conserved-extended-haplotypes (CEHs) of the MHC and three non-MHC “risk-haplotypes” nearby genes EOMES, ZFP36L1, and CLE...

    Authors: D. S. Goodin, P. Khankhanian, P. A. Gourraud and N. Vince
    Citation: BMC Medical Genomics 2021 14:183
  12. SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...

    Authors: Juan Xiong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He, Xiaolu Deng, Ciliu Zhang, Li Yang, Jing Peng and Fei Yin
    Citation: BMC Medical Genomics 2021 14:182
  13. Breast cancer (BC) is the most invasive cancer with different subtypes that its metabolism is unique compared with normal cells. Glutamine is considered critical nutrition that many cancer cells, particularly ...

    Authors: Soheila Delgir, Khandan Ilkhani, Asma Safi, Yazdan Rahmati, Vahid Montazari, Zahra Zaynali-Khasraghi, Farhad Seif, Milad Bastami and Mohammad Reza Alivand
    Citation: BMC Medical Genomics 2021 14:180
  14. Many studies have proposed that the pathogenesis of obesity has a genetic basis, with an important risk factor being the presence of polymorphisms in the region of the TMEM18 gene, which plays a significant role ...

    Authors: Natalia Koj, Łukasz Grochowalski, Justyna Jarczak, Weronika Wójtowicz, Marta Sobalska-Kwapis, Marcin Słomka, Błażej Marciniak and Dominik Strapagiel
    Citation: BMC Medical Genomics 2021 14:179
  15. T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is asso...

    Authors: Martyna Stefaniak, Gabriela Ręka, Joanna Zawitkowska and Monika Lejman
    Citation: BMC Medical Genomics 2021 14:178
  16. This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.

    Authors: Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho and Beom Hee Lee
    Citation: BMC Medical Genomics 2021 14:177
  17. Huntingtin (Htt) protein is the product of the gene mutated in Huntington’s disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the develo...

    Authors: Johanna Bensalel, Hongyuan Xu, Michael L. Lu, Enrico Capobianco and Jianning Wei
    Citation: BMC Medical Genomics 2021 14:176
  18. Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities,...

    Authors: Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang and Zongfu Cao
    Citation: BMC Medical Genomics 2021 14:175
  19. Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients.

    Authors: Sumaira Kanwal, Yu JIn Choi, Si On Lim, Hee Ji Choi, Jin Hee Park, Rana Nuzhat, Aneela khan, Shazia Perveen, Byung-Ok Choi and Ki Wha Chung
    Citation: BMC Medical Genomics 2021 14:174
  20. Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies ...

    Authors: Zhuo Chang, Wei Lu, Zhuhui Zhao, Li Xi, Xiaojing Li, Rong Ye, Jinwen Ni, Zhou Pei, Miaoying Zhang, Ruoqian Cheng, Zhangqian Zheng, Chengjun Sun, Jing Wu and Feihong Luo
    Citation: BMC Medical Genomics 2021 14:172
  21. Chronic lymphocytic leukemia (CLL) is an indolent heme malignancy characterized by the accumulation of CD5+ CD19+ B cells and episodes of relapse. The biological signaling that influence episodes of relapse in CL...

    Authors: Ti’ara L. Griffen, Eric B. Dammer, Courtney D. Dill, Kaylin M. Carey, Corey D. Young, Sha’Kayla K. Nunez, Adaugo Q. Ohandjo, Steven M. Kornblau and James W. Lillard Jr.
    Citation: BMC Medical Genomics 2021 14:171
  22. Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirm...

    Authors: Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou and Qiujing Zhang
    Citation: BMC Medical Genomics 2021 14:170
  23. Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory effect, and STAT4 is an important mediator of inflammation in diabetes. Our ...

    Authors: Jiaqi Cui, Rui Tong, Jing Xu, Yanni Tian, Juan Pan, Ning Wang, Huan Chen, Yanqi Peng, Sijia Fei, Wang Ling, Chaoying Guo, Juanchuan Yao and Wei Cui
    Citation: BMC Medical Genomics 2021 14:169
  24. Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes...

    Authors: Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu and Liangdan Sun
    Citation: BMC Medical Genomics 2021 14:168
  25. Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such di...

    Authors: Jude Emmanuel Cléophat, Michel Dorval, Zaki El Haffaf, Jocelyne Chiquette, Stephanie Collins, Benjamin Malo, Vincent Fradet, Yann Joly and Hermann Nabi
    Citation: BMC Medical Genomics 2021 14:167
  26. Repeat elements constitute a large proportion of the human genome and recent evidence indicates that repeat element expression has functional roles in both physiological and pathological states. Specifically f...

    Authors: M. Onishi-Seebacher, G. Erikson, Z. Sawitzki, D. Ryan, G. Greve, M. Lübbert and T. Jenuwein
    Citation: BMC Medical Genomics 2021 14:166
  27. DNA polymerase epsilon (POLE) is encoded by the POLE gene, and POLE-driven tumors are characterized by high mutational rates. POLE-driven tumors are relatively common in endometrial and colorectal cancer, and the...

    Authors: Jaime I. Davila, Pritha Chanana, Vivekananda Sarangi, Zachary C. Fogarty, S. John Weroha, Ruifeng Guo, Ellen L. Goode, Yajue Huang and Chen Wang
    Citation: BMC Medical Genomics 2021 14:165
  28. Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidenc...

    Authors: Chunyan Jin, Zhiping Gu, Xiaohan Jiang, Pei Yu and Tianhui Xu
    Citation: BMC Medical Genomics 2021 14:164
  29. Genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with increased risk for intracranial aneurysm (IA). However, how such variants affect gene expression with...

    Authors: Kerry E. Poppenberg, Haley R. Zebraski, Naval Avasthi, Muhammad Waqas, Adnan H. Siddiqui, James N. Jarvis and Vincent M. Tutino
    Citation: BMC Medical Genomics 2021 14:162
  30. Single cell sequencing of human heart tissue is technically challenging and methods to cryopreserve heart tissue for obtaining single cell information have not been standardized. Studies published to date have...

    Authors: Amy Larson and Michael T. Chin
    Citation: BMC Medical Genomics 2021 14:161
  31. Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial n...

    Authors: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa and Rim Goucha
    Citation: BMC Medical Genomics 2021 14:160
  32. Recent scientific research has enabled the identification of macrophages related-genes (MaRG), which play a key role in the control of the immune microenvironment in many human cancers. However, the functional...

    Authors: Yingxiang Chen, Cui Zhang, Xiang Zou, Miao Yu, Bo Yang, Chen-Feng Ji, Shi-Yong Gao, Jun Li and Bin Liu
    Citation: BMC Medical Genomics 2021 14:159
  33. Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal tra...

    Authors: Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli and Vittoria Petruzzella
    Citation: BMC Medical Genomics 2021 14:157
  34. Genetic polymorphisms in the MTNR1B gene is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This prospective case–contro...

    Authors: Jin-Fang Song, Jie Zhang, Ming-Zhu Zhang, Jiang Ni, Tao Wang, Yi-Qing Zhao and Naveed Ullah Khan
    Citation: BMC Medical Genomics 2021 14:156
  35. COVID-19 is a respiratory viral infection with unique features including a more chronic course and systemic disease manifestations including multiple organ involvement; and there are differences in disease sev...

    Authors: Philip Kam Weng Kwan, Gail B. Cross, Claire M. Naftalin, Bintou A. Ahidjo, Chee Keng Mok, Felic Fanusi, Intan Permata Sari, Siok Ching Chia, Shoban Krishna Kumar, Rawan Alagha, Sai Meng Tham, Sophia Archuleta, October M. Sessions, Martin L. Hibberd and Nicholas I. Paton
    Citation: BMC Medical Genomics 2021 14:155
  36. Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurr...

    Authors: Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick and Jennifer G. Mulle
    Citation: BMC Medical Genomics 2021 14:154
  37. Refractive eye development is regulated by optical defocus in a process of emmetropization. Excessive exposure to negative optical defocus often leads to the development of myopia. However, it is still largely...

    Authors: Tatiana V. Tkatchenko and Andrei V. Tkatchenko
    Citation: BMC Medical Genomics 2021 14:153
  38. Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Stu...

    Authors: Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu and Xiaodong Wang
    Citation: BMC Medical Genomics 2021 14:152
  39. Milroy disease (MD) is a rare, autosomal-dominant disorder. Variants in the Fms-related tyrosine kinase 4 (FLT4/VEGFR3) gene cause the symptoms of this disease. In this report, we investigated the variant in a la...

    Authors: Yu Sui, Yongping Lu, Meina Lin, Xiang Ni, Xinren Chen, Huan Li and Miao Jiang
    Citation: BMC Medical Genomics 2021 14:151
  40. Oligonucleotide array comparative genomic hybridization (aCGH) analysis has been used for detecting somatic copy number alterations (CNAs) in various types of tumors. This study aimed to assess the clinical ut...

    Authors: Gang Peng, Hongyan Chai, Weizhen Ji, Yufei Lu, Shengming Wu, Hongyu Zhao, Peining Li and Qiping Hu
    Citation: BMC Medical Genomics 2021 14:150
  41. Type 2 diabetes mellitus (T2DM) is mainly affected by genetic and environmental factors; however, the correlation of long noncoding RNAs (lncRNAs) with T2DM remains largely unknown.

    Authors: Hui Jiang, Peian Lou, Xiaoluo Chen, Chenguang Wu and Shihe Shao
    Citation: BMC Medical Genomics 2021 14:149
  42. Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments ...

    Authors: Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah and Melita Irving
    Citation: BMC Medical Genomics 2021 14:148
  43. Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been id...

    Authors: Zeng Zhang, Kechao Zhu, Huiyong Dai, Qi Wang, Changqing Zhang and Zhenlin Zhang
    Citation: BMC Medical Genomics 2021 14:147
  44. Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different ...

    Authors: Hossam Murad, Mohamad Baseel Alhalabi, Amir Dabboul, Nour Alfakseh, Mohamad Sayah Nweder, Youssef Zghib and Hala Wannous
    Citation: BMC Medical Genomics 2021 14:146
  45. Atherosclerosis is a chronic inflammatory disease that affects multiple arteries. Numerous studies have shown the inherent immune diversity in atheromatous plaques and suggest that the dysfunction of different...

    Authors: Yang Shen, Li-rong Xu, Xiao Tang, Chang-po Lin, Dong Yan, Song Xue, Rui-zhe Qian and Da-qiao Guo
    Citation: BMC Medical Genomics 2021 14:145

Annual Journal Metrics

  • 2022 Citation Impact
    2.7 - 2-year Impact Factor
    3.2 - 5-year Impact Factor
    0.730 - SNIP (Source Normalized Impact per Paper)
    0.892 - SJR (SCImago Journal Rank)

    2023 Speed
    33 days submission to first editorial decision for all manuscripts (Median)
    164 days submission to accept (Median)

    2023 Usage 
    1,335,753 downloads
    593 Altmetric mentions 

Peer-review Terminology

  • The following summary describes the peer review process for this journal:

    Identity transparency: Single anonymized

    Reviewer interacts with: Editor

    Review information published: Review reports. Reviewer Identities reviewer opt in. Author/reviewer communication

    More information is available here

Sign up for article alerts and news from this journal