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  1. Assisted reproductive technologies (ART) may perturb DNA methylation (DNAm) in early embryonic development. Although a handful of epigenome-wide association studies of ART have been published, none have invest...

    Authors: Julia Romanowska, Haakon E. Nustad, Christian M. Page, William R. P. Denault, Yunsung Lee, Maria C. Magnus, Kristine L. Haftorn, Miriam Gjerdevik, Boris Novakovic, Richard Saffery, Håkon K. Gjessing, Robert Lyle, Per Magnus, Siri E. Håberg and Astanand Jugessur
    Citation: Human Genomics 2023 17:35
  2. Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype.

    Authors: Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao and Linlin Zhang
    Citation: Human Genomics 2023 17:34
  3. Super-enhancers (SEs), driving high-level expression of genes with tumor-promoting functions, have been investigated recently. However, the roles of super-enhancer-associated lncRNAs (SE-lncRNAs) in tumors rem...

    Authors: Zhihao Yang, Yinfei Zheng, Haoyuan Wu, Han Xie, Jiajia Zhao, Zhigang Chen, Lianxin Li, Xiaoyu Yue, Bing Zhao and Erbao Bian
    Citation: Human Genomics 2023 17:33
  4. Authors: Guanglin He, Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu…
    Citation: Human Genomics 2023 17:32

    The original article was published in Human Genomics 2023 17:3

  5. The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry ...

    Authors: Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron and Hagit Baris Feldman
    Citation: Human Genomics 2023 17:30
  6. Non-recombining regions of the Y-chromosome recorded the evolutionary traces of male human populations and are inherited haplotype-dependently and male-specifically. Recent whole Y-chromosome sequencing studie...

    Authors: Guanglin He, Mengge Wang, Lei Miao, Jing Chen, Jie Zhao, Qiuxia Sun, Shuhan Duan, Zhiyong Wang, Xiaofei Xu, Yuntao Sun, Yan Liu, Jing Liu, Zheng Wang, Lanhai Wei, Chao Liu, Jian Ye…
    Citation: Human Genomics 2023 17:29
  7. Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS) by disrupting the normal homeostatic regulation of serine palmitoyltransferase (SPT). Ho...

    Authors: Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu…
    Citation: Human Genomics 2023 17:28
  8. Pharmacists’ contribution to pharmacogenomics (PGx) implementation in clinical practice is vital, but a great proportion of them are not aware of PGx and its applications. This highlights the university educat...

    Authors: Dimitra Makrygianni, Margarita-Ioanna Koufaki, George P. Patrinos and Konstantinos Z. Vasileiou
    Citation: Human Genomics 2023 17:27
  9. G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activ...

    Authors: Ziyan Li, Zhenyi Huang, Yanxia Liu, Yunshan Cao, Yating Li, Yanping Fang, Meiying Huang, Zixi Liu, Lijuan Lin and Lingxiao Jiang
    Citation: Human Genomics 2023 17:26
  10. Single-nucleotide polymorphisms (SNPs) and DNA methylation are crucial regulators of essential hypertension (EH). Amyloid precursor protein (APP) mutations are implicated in hypertension development. Nonetheless,...

    Authors: Ruichao Li, Juhui Song, Ansu Zhao, Xiaoyan Diao, Ting Zhang, Xiaolan Qi, Zhizhong Guan, Yu An, Lingyan Ren, Chanjuan Wang and Yan He
    Citation: Human Genomics 2023 17:25
  11. Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases. Ou...

    Authors: Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix and Elisabeth Tournier-Lasserve
    Citation: Human Genomics 2023 17:24
  12. Cuproptosis, as a copper-induced mitochondrial cell death, has attracted extensive attention recently, especially in cancer. Although some key regulatory genes have been identified in cuproptosis, the related ...

    Authors: Shichao Liu, Shoucai Zhang, Yingjie Liu, XiaoRong Yang and Guixi Zheng
    Citation: Human Genomics 2023 17:22
  13. Long-read sequencing technologies have the potential to overcome the limitations of short reads and provide a comprehensive picture of the human genome. However, the characterization of repetitive sequences by...

    Authors: Ko Ikemoto, Hinano Fujimoto and Akihiro Fujimoto
    Citation: Human Genomics 2023 17:21
  14. Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at th...

    Authors: Daniel López-López, Gema Roldán, Jose L. Fernández-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuño, Guillermo Pita, Rocío Núñez-Torres, Anna González-Neira, María Peña-Chilet and Joaquin Dopazo
    Citation: Human Genomics 2023 17:20
  15. Polymorphisms in the interleukin-10 (IL10) gene have been linked to the severity of the patients infected with the viral infections. This study aimed to assess if the IL10 gene polymorphisms rs1800871, rs1800872,...

    Authors: Sattar Jabbar Abbood Abbood, Enayat Anvari and Abolfazl Fateh
    Citation: Human Genomics 2023 17:19
  16. The metabolome is the best representation of cancer phenotypes. Gene expression can be considered a confounding covariate affecting metabolite levels. Data integration across metabolomics and genomics to estab...

    Authors: Chung-I. Li, Yu-Min Yeh, Yi-Shan Tsai, Tzu-Hsuan Huang, Meng-Ru Shen and Peng-Chan Lin
    Citation: Human Genomics 2023 17:18
  17. Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydroc...

    Authors: Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude…
    Citation: Human Genomics 2023 17:16
  18. Genetic variability in the cytochrome P450 CYP2C9 constitutes an important predictor for efficacy and safety of various commonly prescribed drugs, including coumarin anticoagulants, phenytoin and multiple non-...

    Authors: Yitian Zhou, Lenka Nevosadová, Erik Eliasson and Volker M. Lauschke
    Citation: Human Genomics 2023 17:15
  19. The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse sp...

    Authors: Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro…
    Citation: Human Genomics 2023 17:14
  20. Therapy-related myeloid neoplasm (T-MN) rarely occurs among cancer survivors, and was characterized by poor prognosis. T-MN has germline predisposition in a considerable proportion. Here, clinical characterist...

    Authors: Jiwon Yun, Hyojin Song, Sung-Min Kim, Soonok Kim, Seok Ryun Kwon, Young Eun Lee, Dajeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Hongseok Yun and Dong Soon Lee
    Citation: Human Genomics 2023 17:13
  21. Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome du...

    Authors: Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang and Nejat Mahdieh
    Citation: Human Genomics 2023 17:12
  22. While transcription factor (TF) regulation is known to play an important role in osteoblast development, differentiation, and bone metabolism, the molecular features of TFs in human osteoblasts at the single-c...

    Authors: Shengran Wang, Yun Gong, Zun Wang, Xianghe Meng, Zhe Luo, Christopher J. Papasian, Jonathan Greenbaum, Yisu Li, Qilan Liang, Yiping Chen, Xiaohua Li, Qiu Xiang, Hiuxi Zhang, Ying Liu, Liang Cheng, Yihe Hu…
    Citation: Human Genomics 2023 17:11
  23. Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing tech...

    Authors: Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso and Silvia Deaglio
    Citation: Human Genomics 2023 17:10
  24. Protein kinase C delta (PRKCD) and caspase recruitment domain family member 9 (CARD9) are genes involved in B and T cell activation, and cytokine production, which are vital mechanisms underlying autoimmune disea...

    Authors: Chunya Zhou, Shiya Cai, Yuhong Xie, Zhen Zeng, Jun Zhang, Guannan Su, Qiuying Wu, Xingsheng Ye, Qingfeng Cao, Peizeng Yang and Jianmin Hu
    Citation: Human Genomics 2023 17:9
  25. Aging affects the incidence of diseases such as cancer and dementia, so the development of biomarkers for aging is an important research topic in medical science. While such biomarkers have been mainly identif...

    Authors: Daigo Okada, Jian Hao Cheng, Cheng Zheng, Tatsuro Kumaki and Ryo Yamada
    Citation: Human Genomics 2023 17:8
  26. SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs pr...

    Authors: Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern…
    Citation: Human Genomics 2023 17:7
  27. RNA methylation is a widely known post-transcriptional regulation which exists in many cancer and immune system diseases. However, the potential role and crosstalk of five types RNA methylation regulators in d...

    Authors: Jia Li, Dongwei Liu, Jingjing Ren, Guangpu Li, Zihao Zhao, Huanhuan Zhao, Qianqian Yan, Jiayu Duan and Zhangsuo Liu
    Citation: Human Genomics 2023 17:6
  28. Clinical exome sequencing (CES) provides a comprehensive and effective analysis of relevant disease-associated genes in a cost-effective manner compared to whole exome sequencing. Although several studies have...

    Authors: Tom Alix, Céline Chéry, Thomas Josse, Jean-Pierre Bronowicki, François Feillet, Rosa-Maria Guéant-Rodriguez, Farès Namour, Jean-Louis Guéant and Abderrahim Oussalah
    Citation: Human Genomics 2023 17:5
  29. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline...

    Authors: Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi and Kazutaka Ikeda
    Citation: Human Genomics 2023 17:4
  30. Fine-scale genetic structure of ethnolinguistically diverse Chinese populations can fill the gap in the missing diversity and evolutionary landscape of East Asians, particularly for anthropologically informed ...

    Authors: Guanglin He, Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu…
    Citation: Human Genomics 2023 17:3

    The Correction to this article has been published in Human Genomics 2023 17:32

  31. Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 (gBRCA1/2) are associated with elevated risk of breast cancer in young women in Asia. BRCA1 and BRCA2 proteins contribute to genomic stabili...

    Authors: Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee and Seock-Ah Im
    Citation: Human Genomics 2023 17:2
  32. At present, the hereditary hearing loss homepage, (https://​hereditaryhearin​gloss.​org/​), includes 258 deafness genes and more than 500 genes that have been re...

    Authors: Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao and Tiesong Zhang
    Citation: Human Genomics 2023 17:1
  33. Blood plasma, one of the most studied liquid biopsies, contains various molecules that have biomarker potential for cancer detection, including cell-free DNA (cfDNA) and cell-free RNA (cfRNA). As the vast majo...

    Authors: Jill Deleu, Kathleen Schoofs, Anneleen Decock, Kimberly Verniers, Sofie Roelandt, Angie Denolf, Joke Verreth, Bram De Wilde, Tom Van Maerken, Katleen De Preter and Jo Vandesompele
    Citation: Human Genomics 2022 16:73
  34. Novel biomarkers for personalizing anticoagulation remain undetermined. We aimed to investigate the association of plasma miRNAs with pharmacokinetic–pharmacodynamic (PK-PD) profiles of rivaroxaban.

    Authors: Hanxu Zhang, Zhuo Zhang, Zhiyan Liu, Guangyan Mu, Qiufen Xie, Shuang Zhou, Zhe Wang, Yu Cao, Yunlong Tan, Xiaohua Wei, Dongdong Yuan, Qian Xiang and Yimin Cui
    Citation: Human Genomics 2022 16:72
  35. Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy i...

    Authors: Abdulrahman H. Al Anazi, Ahmed S. Ammar, Mahmoud Al-Hajj, Cyril Cyrus, Danah Aljaafari, Iname Khoda, Ahmed K. Abdelfatah, Abdullah A. Alsulaiman, Firas Alanazi, Rawan Alanazi, Divya Gandla, Hetal Lad, Samar Barayan, Brendan J. Keating and Amein K. Al-Ali
    Citation: Human Genomics 2022 16:71
  36. Triple-negative breast cancer (TNBC) is a very heterogeneous disease. Several gene expression and mutation profiling approaches were used to classify it, and all converged to the identification of distinct mol...

    Authors: Laila Akhouayri, Paola Ostano, Maurizia Mello-Grand, Ilaria Gregnanin, Francesca Crivelli, Sara Laurora, Daniele Liscia, Francesco Leone, Angela Santoro, Antonino Mulè, Donatella Guarino, Claudia Maggiore, Angela Carlino, Stefano Magno, Maria Scatolini, Alba Di Leone…
    Citation: Human Genomics 2022 16:70
  37. Authors: Ning Yuan Lee, Melissa Hum, Aseervatham Anusha Amali, Wei Kiat Lim, Matthew Wong, Matthew Khine Myint, Ru Jin Tay, Pei-Yi Ong, Jens Samol, Chia Wei Lim, Peter Ang, Min-Han Tan, Soo-Chin Lee and Ann S. G. Lee
    Citation: Human Genomics 2022 16:68

    The original article was published in Human Genomics 2022 16:61

  38. The human exposome is composed of diverse metabolites and small chemical compounds originated from endogenous and exogenous sources, respectively. Genetic and environmental factors influence metabolite levels,...

    Authors: In-Hee Lee, Matthew Ryan Smith, Azam Yazdani, Sumiti Sandhu, Douglas I. Walker, Kenneth D. Mandl, Dean P. Jones and Sek Won Kong
    Citation: Human Genomics 2022 16:67
  39. The HUGO Gene Nomenclature Committee assigns unique symbols and names to human genes. The use of approved nomenclature enables effective communication between researchers, and there are multiple examples of ho...

    Authors: Bryony Braschi, Elspeth A. Bruford, Amy T. Cavanagh, Sarah D. Neuman and Arash Bashirullah
    Citation: Human Genomics 2022 16:66
  40. The tripartite motif (TRIM) proteins function as important regulators in innate immunity, tumorigenesis, cell differentiation and ontogenetic development. However, we still lack knowledge about the genetic and...

    Authors: Yueying Gao, Tao Pan, Gang Xu, Si Li, Jing Guo, Ya Zhang, Qi Xu, Jiwei Pan, Yanlin Ma, Juan Xu and Yongsheng Li
    Citation: Human Genomics 2022 16:65
  41. Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the ...

    Authors: Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He and Jian Lu
    Citation: Human Genomics 2022 16:64
  42. Recently, several rare variants of TP73 were identified as potential disease cause for amyotrophic lateral sclerosis (ALS) in the European population. However, further replication was still necessary, especially ...

    Authors: Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao…
    Citation: Human Genomics 2022 16:63
  43. In recent years, a growing interest in the characterization of the molecular basis of psoriasis has been observed. However, despite the availability of a large amount of molecular data, many pathogenic mechani...

    Authors: Antonio Federico, Alisa Pavel, Lena Möbus, David McKean, Giusy del Giudice, Vittorio Fortino, Hanna Niehues, Joe Rastrick, Kilian Eyerich, Stefanie Eyerich, Ellen van den Bogaard, Catherine Smith, Stephan Weidinger, Emanuele de Rinaldis and Dario Greco
    Citation: Human Genomics 2022 16:62
  44. For the majority of individuals with early-onset or familial breast cancer referred for genetic testing, the genetic basis of their familial breast cancer remains unexplained. To identify novel germline varian...

    Authors: Ning Yuan Lee, Melissa Hum, Aseervatham Anusha Amali, Wei Kiat Lim, Matthew Wong, Matthew Khine Myint, Ru Jin Tay, Pei-Yi Ong, Jens Samol, Chia Wei Lim, Peter Ang, Min-Han Tan, Soo-Chin Lee and Ann S. G. Lee
    Citation: Human Genomics 2022 16:61

    The Correction to this article has been published in Human Genomics 2022 16:68

  45. The interferon-induced transmembrane-protein 3 (IFITM3) is a vital component of the immune system's defense against viral infection. Variants in the IFITM3 gene have been linked to changes in expression and the r...

    Authors: Melika Gholami, Fatemeh Sakhaee, Fattah Sotoodehnejadnematalahi, Mohammad Saber Zamani, Iraj Ahmadi, Enayat Anvari and Abolfazl Fateh
    Citation: Human Genomics 2022 16:60
  46. The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for cr...

    Authors: Elspeth A. Bruford, Bryony Braschi, Liora Haim-Vilmovsky, Tamsin E. M. Jones, Ruth L. Seal and Susan Tweedie
    Citation: Human Genomics 2022 16:58

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