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  1. 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

    Content type: Research

    Published on:

  2. 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

    Content type: Research

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  3. 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

    Content type: Research article

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  4. Transmission within families and multiple spike protein mutations have been associated with the rapid transmission of SARS-CoV-2. We aimed to: (1) describe full genome characterization of SARS-CoV-2 and corre...

    Authors: Gunadi, Hendra Wibawa, Mohamad Saifudin Hakim, Marcellus, Ika Trisnawati, Riat El Khair, Rina Triasih, Irene, Afiahayati, Kristy Iskandar, Siswanto, Nungki Anggorowati, Edwin Widyanto Daniwijaya, Endah Supriyati, Dwi Aris Agung Nugrahaningsih, Eko Budiono…

    Citation: BMC Medical Genomics 2021 14:144

    Content type: Research

    Published on:

  5. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Shulei Fan, Qiuxia Wang, Amanda Y. Wang, Ping Zhang, Xiang Zhong, Shasha Chen, Guisen Li, Li Wang and Wei Wang

    Citation: BMC Medical Genomics 2021 14:143

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genomics 2021 14:123

  7. Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with ery...

    Authors: Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez and Gina Cuartas-Montoya

    Citation: BMC Medical Genomics 2021 14:140

    Content type: Case report

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  8. The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk Profile...

    Authors: Jessica L. Bourdon, Amelia Dorsey, Maia Zalik, Amanda Pietka, Patricia Salyer, Michael J. Bray, Laura J. Bierut and Alex T. Ramsey

    Citation: BMC Medical Genomics 2021 14:139

    Content type: Research article

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  9. Older aged adults and those with pre-existing conditions are at highest risk for severe COVID-19 associated outcomes.

    Authors: Stephen W. Bickler, David M. Cauvi, Kathleen M. Fisch, James M. Prieto, Alicia G. Sykes, Hariharan Thangarajah, David A. Lazar, Romeo C. Ignacio, Dale R. Gerstmann, Allen F. Ryan, Philip E. Bickler and Antonio De Maio

    Citation: BMC Medical Genomics 2021 14:138

    Content type: Research article

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  10. We report a patient with Essential Thrombocythemia (ET), subsequently diagnosed with concurrent myeloid and lymphoid leukemia. Generally, the molecular mechanisms underlying leukemic transformation of Philadel...

    Authors: Yujie Chen, Rafee Talukder, Brian Y. Merritt, Katherine Y. King, Marek Kimmel, Gustavo Rivero and Romina Sosa

    Citation: BMC Medical Genomics 2021 14:137

    Content type: Case report

    Published on:

  11. Melatonin is a hormone that is secreted at night by the pineal gland. It exerts its function by binding to the MT1 and MT2 receptors, which are encoded by the MTNR1A and MTNR1B genes, respectively. Previous studi...

    Authors: Cynthia Tchio, Solomon K. Musani, Alexander Quarshie and Gianluca Tosini

    Citation: BMC Medical Genomics 2021 14:136

    Content type: Research article

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  12. Calcific aortic valve disease (CAVD) is the most common subclass of valve heart disease in the elderly population and a primary cause of aortic valve stenosis. However, the underlying mechanisms remain unclear.

    Authors: Jin-Yu Sun, Yang Hua, Hui Shen, Qiang Qu, Jun-Yan Kan, Xiang-Qing Kong, Wei Sun and Yue-Yun Shen

    Citation: BMC Medical Genomics 2021 14:135

    Content type: Research

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  13. Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease that requires surgery. Previous studies have indicated that genetic mutations are implicated in DLSS. However, studies on specific gene mut...

    Authors: Xin Jiang and Dong Chen

    Citation: BMC Medical Genomics 2021 14:134

    Content type: Research article

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  16. Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 re...

    Authors: Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak and Ilona Jaszczuk

    Citation: BMC Medical Genomics 2021 14:131

    Content type: Research article

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  17. The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid le...

    Authors: Weijia Fu, Aijie Huang, Hui Cheng, Yanrong Luo, Lei Gao, Gusheng Tang, Jianmin Yang, Jianmin Wang and Xiong Ni

    Citation: BMC Medical Genomics 2021 14:130

    Content type: Case report

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  18. Copy number variations (CNVs) account for a substantial proportion of inter-individual genomic variation. However, a majority of genomic variation studies have focused on single-nucleotide variations (SNVs), w...

    Authors: Feyza Yilmaz, Megan Null, David Astling, Hung-Chun Yu, Joanne Cole, Stephanie A. Santorico, Benedikt Hallgrimsson, Mange Manyama, Richard A. Spritz, Audrey E. Hendricks and Tamim H. Shaikh

    Citation: BMC Medical Genomics 2021 14:129

    Content type: Research article

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  19. Identification of factors associated with proliferation in the hepatocellular carcinoma (HCC) microenvironment aids in understanding the mechanisms of disease progression and provides druggable targets. Gene e...

    Authors: Liang Hu and Chao Wu

    Citation: BMC Medical Genomics 2021 14:128

    Content type: Research article

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  20. This study aimed to determine and verify the prognostic value and potential functional mechanism of signal recognition particle 14 (SRP14) in acute myeloid leukemia (AML) using a genome-wide expression profile...

    Authors: Lingling Shi, Rui Huang and Yongrong Lai

    Citation: BMC Medical Genomics 2021 14:127

    Content type: Research article

    Published on:

  21. Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of year...

    Authors: Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu and Shu-Hong Hu

    Citation: BMC Medical Genomics 2021 14:126

    Content type: Case report

    Published on:

  24. Both Genome-wide associations and our previous study have shown that single nucleotide polymorphisms (SNPs) of M-type phospholipase A2 receptor (PLA2R) and human leukocyte antigen complex class II HLA-DQα-chain 1...

    Authors: Shulei Fan, Qiuxia Wang, Amanda Y. Wang, Ping Zhang, Xiang Zhong, Shasha Chen, Guisen Li, Li Wang and Wei Wang

    Citation: BMC Medical Genomics 2021 14:123

    Content type: Research article

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:143

  25. Today, there are a lot of markers on the prognosis and diagnosis of complex diseases such as primary breast cancer. However, our understanding of the drivers that influence cancer aggression is limited.

    Authors: Leila Mirsadeghi, Reza Haji Hosseini, Ali Mohammad Banaei-Moghaddam and Kaveh Kavousi

    Citation: BMC Medical Genomics 2021 14:122

    Content type: Research

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  26. ABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in bladder cancer, and high expression in solid cancer has also been detected.

    Authors: Min-Hye Kim, Gi-Eun Yang, Mi-So Jeong, Jeong-Yeon Mun, Sang-Yeop Lee, Jong-Kil Nam, Yung Hyun Choi, Tae Nam Kim and Sun-Hee Leem

    Citation: BMC Medical Genomics 2021 14:121

    Content type: Research

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  28. Kindlin Family Members have been reported to be aberrantly expressed in various human cancer types and involved in tumorigenesis, tumor progression, and chemoresistance. However, their roles in non-small cell ...

    Authors: Xiaoshan Su, Ning Liu, Weijing Wu, Zhixing Zhu, Yuan Xu, Feng He, Xinfu Chen and Yiming Zeng

    Citation: BMC Medical Genomics 2021 14:119

    Content type: Research

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  29. Associations have been observed among genetic variants, dietary patterns, and metabolic syndrome (MetS). A gap in knowledge is whether a genetic risk score (GRS) and dietary patterns interact to increase MetS ...

    Authors: Dale S. Hardy, Susan B. Racette, Jane T. Garvin, Hirut T. Gebrekristos and Tesfaye B. Mersha

    Citation: BMC Medical Genomics 2021 14:118

    Content type: Research article

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  30. Studies on the XRCC3 rs1799794 polymorphism show that this polymorphism is involved in a variety of cancers, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was ...

    Authors: Weiqing Liu, Shumin Ma, Lei Liang, Zhiyong Kou, Hongbin Zhang and Jun Yang

    Citation: BMC Medical Genomics 2021 14:117

    Content type: Research article

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  31. Colorectal cancer (CRC) is the second most prevalent cancer, as it accounts for approximately 10% of all annually diagnosed cancers. Studies have indicated that DNA methylation is involved in cancer genesis. T...

    Authors: Xiao-Liang Xing, Zhi-Yong Yao, Chaoqun Xing, Zhi Huang, Jing Peng and Yuan-Wu Liu

    Citation: BMC Medical Genomics 2021 14:116

    Content type: Research

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  32. Hepatocellular carcinoma (HCC) is one of the most common and fatal cancers worldwide. HCC invasion and metastasis are crucial for its poor prognosis. SH3PXD2B is a scaffold protein and critical for intravascul...

    Authors: Xiang Kui, Yan Wang, Cheng Zhang, Hai Li, Qingfeng Li, Yang Ke and Lin Wang

    Citation: BMC Medical Genomics 2021 14:115

    Content type: Research

    Published on:

  33. Genetic variants in the human leukocyte antigen (HLA) locus contribute to the risk for developing scleroderma/systemic sclerosis (SSc). However, there are other replicated loci that also contribute to genetic ...

    Authors: Kerry E. Poppenberg, Vincent M. Tutino, Evan Tarbell and James N. Jarvis

    Citation: BMC Medical Genomics 2021 14:114

    Content type: Research

    Published on:

  34. Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most freq...

    Authors: Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani and Jaber Lyahyai

    Citation: BMC Medical Genomics 2021 14:113

    Content type: Case report

    Published on:

  35. Pancreatic adenocarcinoma (PA) is a very aggressive cancer and has one of the poorest prognoses. Usually, the diagnosis is late and resistant to conventional treatment. Environmental and genetic factors contri...

    Authors: Mateus Nóbrega Aoki, Angelika Stein, Jaqueline Carvalho de Oliveira, Roger Chammas, Miyuki Uno, Francielle Boçon de Araújo Munhoz, Anelis Maria Marin and Federico Canzian

    Citation: BMC Medical Genomics 2021 14:111

    Content type: Research article

    Published on:

  36. Dried blood spots (DBS) are a relatively inexpensive source of nucleic acids and are easy to collect, transport, and store in large-scale field surveys, especially in resource-limited settings. However, their ...

    Authors: Pooja Agrawal, Shanmukh Katragadda, Arun K. Hariharan, Vijayashree Gauribidanur Raghavendrachar, Arunika Agarwal, Rashmi Dayalu, Disha Awasthy, Sanjay C. Sharma, Yasodha Kannan Sivasamy, P. Lakshmana, Ashwini Shanmugam, Vamsi Veeramachaneni, Vaijayanti Gupta, B. P. Vani, Lekha Subaiya, T. S. Syamala…

    Citation: BMC Medical Genomics 2021 14:110

    Content type: Research article

    Published on:

  38. Cryptococcal meningitis (CM) is a major cause of death in HIV-infected patients in sub-Saharan Africa. Many CM patients experience cryptococcosis-associated immune reconstitution inflammatory syndrome (C-IRIS)...

    Authors: Irina Vlasova-St Louis, Abdu K. Musubire, David B. Meya, Henry W. Nabeta, Hesham Mohei, David R. Boulware and Paul R. Bohjanen

    Citation: BMC Medical Genomics 2021 14:108

    Content type: Research article

    Published on:

  39. X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more t...

    Authors: Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie and Yizhou Zheng

    Citation: BMC Medical Genomics 2021 14:107

    Content type: Research article

    Published on:

  40. Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (C...

    Authors: Yunsheng Ge, Jia Li, Jianlong Zhuang, Jian Zhang, Yanru Huang, Meihua Tan, Wei Li, Jiayan Chen and Yulin Zhou

    Citation: BMC Medical Genomics 2021 14:106

    Content type: Research article

    Published on:

  41. Tumor molecular profile analysis by Next Generation Sequencing technology is currently widely applied in clinical practice and has enabled the detection of predictive biomarkers of response to targeted treatme...

    Authors: Mustafa Özdoğan, Eirini Papadopoulou, Nikolaos Tsoulos, Aikaterini Tsantikidi, Vasiliki-Metaxa Mariatou, Georgios Tsaousis, Evgenia Kapeni, Evgenia Bourkoula, Dimitrios Fotiou, Georgios Kapetsis, Ioannis Boukovinas, Nikolaos Touroutoglou, Athanasios Fassas, Achilleas Adamidis, Paraskevas Kosmidis, Dimitrios Trafalis…

    Citation: BMC Medical Genomics 2021 14:105

    Content type: Research article

    Published on:

  43. Multiple factors have been attributed to acne vulgaris predisposition and individual variations in the severity of skin symptoms, and genetics stood out as one of the major factors.

    Authors: Anna Hwee Sing Heng, Yee-How Say, Yang Yie Sio, Yu Ting Ng and Fook Tim Chew

    Citation: BMC Medical Genomics 2021 14:103

    Content type: Research article

    Published on:

  44. Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as...

    Authors: Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, Rui Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, Chaonan Shi, Hongyun Zhang, Wei Dong, Hui Huang…

    Citation: BMC Medical Genomics 2021 14:102

    Content type: Research article

    Published on:

  45. Long noncoding RNAs (lncRNAs) are involved in a variety of human immune diseases. However, the expression profile and precise function of lncRNAs in allergic rhinitis (AR) remain unknown. In the present study,...

    Authors: Xian Wei, Man Xu, Chao Wang, Shengjian Fang, Yu Zhang and Weihua Wang

    Citation: BMC Medical Genomics 2021 14:100

    Content type: Research article

    Published on:

  46. Potocki–Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a s...

    Authors: Xuejiao Chen, Huihui Xu, Weiwu Shi, Feng Wang, Fenfen Xu, Yang Zhang, Jun Gan, Xiong Tian, Baojun Chen and Meizhen Dai

    Citation: BMC Medical Genomics 2021 14:99

    Content type: Research article

    Published on:

  47. Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurod...

    Authors: Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano and Antonina Fontana

    Citation: BMC Medical Genomics 2021 14:98

    Content type: Case report

    Published on:

  48. α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-glo...

    Authors: Xi Luo, Xiang-mei Zhang, Liu-song Wu, Jindong Chen and Yan Chen

    Citation: BMC Medical Genomics 2021 14:97

    Content type: Research article

    Published on:

  49. Bioinformatics was used to analyze the skin cutaneous melanoma (SKCM) gene expression profile to provide a theoretical basis for further studying the mechanism underlying metastatic SKCM and the clinical progn...

    Authors: Guoliang Jia, Zheyu Song, Zhonghang Xu, Youmao Tao, Yuanyu Wu and Xiaoyu Wan

    Citation: BMC Medical Genomics 2021 14:96

    Content type: Research article

    Published on:

  50. ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far.

    Authors: Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen and Xuqin Chen

    Citation: BMC Medical Genomics 2021 14:95

    Content type: Case report

    Published on:

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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

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