Skip to main content

Articles

Page 3 of 18

  1. Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as ...

    Authors: Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann and Alexander Zimprich
    Citation: Human Genomics 2023 17:55
    Content type: Research Published on:

    The Correction to this article has been published in Human Genomics 2023 17:79

  2. Clinical severity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outcomes could be influenced by genetic polymorphisms in angiotensin I-converting enzyme (ACE1) and ACE2. This study aims to exami...

    Authors: Farzaneh Sheikhian, Sahar Sadeghi Mofrad, Samira Tarashi, Morteza Ghazanfari Jajin, Fatemeh Sakhaee, Iraj Ahmadi, Enayat Anvari, Mojgan Sheikhpour and Abolfazl Fateh
    Citation: Human Genomics 2023 17:54
    Content type: Research Published on:

  4. Inattention has been given to the pathogenesis of adolescent and young adult (AYA) hepatocellular carcinoma (HCC). Due to the more advanced tumor progression and poorer prognosis of AYA-HCC, together with a be...

    Authors: Tao Lv, Bo Zhang, Xi Xu, Chenhao Jiang, Daofeng Zheng, Diao He, Yongjie Zhou and Jiayin Yang
    Citation: Human Genomics 2023 17:52
    Content type: Research Published on:

  5. Individuals infected with SARS-CoV-2 vary greatly in their disease severity, ranging from asymptomatic infection to severe disease. The regulation of gene expression is an important mechanism in the host immun...

    Authors: T. Gjorgjieva, A. Chaloemtoem, T. Shahin, O. Bayaraa, M. M. Dieng, M. Alshaikh, M. Abdalbaqi, J. Del Monte, G. Begum, C. Leonor, V. Manikandan, N. Drou, M. Arshad, M. Arnoux, N. Kumar, A. Jabari…
    Citation: Human Genomics 2023 17:49
    Content type: Research Published on:

  6. Cardiovascular diseases and especially Acute Coronary Syndrome (ACS) constitute a major health issue impacting millions of patients worldwide. Being a leading cause of death and hospital admissions in many Eur...

    Authors: Margarita-Ioanna Koufaki, Vasileios Fragoulakis, Xando Díaz-Villamarín, Kariofyllis Karamperis, Athanassios Vozikis, Jesse J. Swen, Cristina L. Dávila-Fajardo, Konstantinos Z. Vasileiou, George P. Patrinos and Christina Mitropoulou
    Citation: Human Genomics 2023 17:51
    Content type: Research Published on:

  7. The use of molecular biomarkers for COVID-19 remains unconclusive. The application of a molecular biomarker in combination with clinical ones that could help classifying aggressive patients in first steps of t...

    Authors: Silvia Martinez-Diz, Carmen Maria Morales-Álvarez, Yarmila Garcia-Iglesias, Juan Miguel Guerrero-González, Catalina Romero-Cachinero, Jose María González-Cabezuelo, Francisco Javier Fernandez-Rosado, Verónica Arenas-Rodríguez, Rocío Lopez-Cintas, Maria Jesús Alvarez-Cubero and Luis Javier Martinez-Gonzalez
    Citation: Human Genomics 2023 17:50
    Content type: Research Published on:

  8. Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their resp...

    Authors: José Luis Lopez-Campos, Noelia Rapun, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali Munive, Hakan Günen, Estrella Drobnic, Marc Miravitlles and Lourdes Osaba
    Citation: Human Genomics 2023 17:48
    Content type: Research Published on:

  9. Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular disease (CVD) deaths in the USA and around the globe. Due to the complex nature, progression, inherent genetic make...

    Authors: Kush Ketan Patel, Cynthia Venkatesan, Habiba Abdelhalim, Saman Zeeshan, Yuichiro Arima, Suvi Linna-Kuosmanen and Zeeshan Ahmed
    Citation: Human Genomics 2023 17:47
    Content type: Review Published on:

  10. The Million Veteran Program (MVP) participants represent 100 years of US history, including significant social and demographic changes over time. Our study assessed two aspects of the MVP: (i) longitudinal cha...

    Authors: Frank R. Wendt, Gita A. Pathak, Jacqueline Vahey, Xuejun Qin, Dora Koller, Brenda Cabrera-Mendoza, Angela Haeny, Kelly M. Harrington, Nallakkandi Rajeevan, Linh M. Duong, Daniel F. Levey, Flavio De Angelis, Antonella De Lillo, Tim B. Bigdeli, Saiju Pyarajan, John Michael Gaziano…
    Citation: Human Genomics 2023 17:46
    Content type: Research Published on:

  11. Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream r...

    Authors: Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso and Marta Corton
    Citation: Human Genomics 2023 17:45
    Content type: Research Published on:

  12. Ubiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or prevalence is not yet fully understood. The clinical application of next-g...

    Authors: Unbeom Shin, Yeonsong Choi, Hwa Soo Ko, Kyungjae Myung, Semin Lee, Chong Kun Cheon and Yoonsung Lee
    Citation: Human Genomics 2023 17:44
    Content type: Research Published on:

  13. HER2-positive breast cancer occurs in 15–20% of breast cancer patients and is characterized by poor prognosis. Trastuzumab is considered the key drug for treatment of HER2-positive breast cancer patients. It i...

    Authors: Nermine H. Zakaria, Doaa Hashad, Marwa H. Saied, Neamat Hegazy, Alyaa Elkayal and Eman Tayae
    Citation: Human Genomics 2023 17:43
    Content type: Research Published on:

  15. Congenital cataract is one of the most genetically heterogeneous ocular conditions with different genes involved in its etiology. Here, we describe the analysis of a new candidate gene of a congenital bilatera...

    Authors: M. Chograni, H. M. Alahdal and M. Rejili
    Citation: Human Genomics 2023 17:41
    Content type: Research Published on:

  16. Science, technology, engineering, and mathematics (STEM) professionals are regarded as the highly skilled labor force that fosters economic productivity, enterprise innovation, and international competitivenes...

    Authors: Chen Zhu, Qiran Zhao, Jianbo He, Petri Böckerman, Siyang Luo and Qihui Chen
    Citation: Human Genomics 2023 17:40
    Content type: Research Published on:

  17. Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the se...

    Authors: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen and Christian Gilissen
    Citation: Human Genomics 2023 17:39
    Content type: Research Published on:

  18. At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) seq...

    Authors: Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Yukun Zeng and Li Du
    Citation: Human Genomics 2023 17:38
    Content type: Research Published on:

  19. Myelodysplastic syndromes (MDS) consist of a group of hematological malignancies characterized by ineffective hematopoiesis, cytogenetic abnormalities, and often a high risk of transformation to acute myeloid ...

    Authors: Stavroula Siamoglou, Ruben Boers, Maria Koromina, Joachim Boers, Anna Tsironi, Theodora Chatzilygeroudi, Vasileios Lazaris, Evgenia Verigou, Alexandra Kourakli, Wilfred F. J. van IJcken, Joost Gribnau, Argiris Symeonidis and George P. Patrinos
    Citation: Human Genomics 2023 17:37
    Content type: Research Published on:

  20. Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants.

    Authors: Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao and Xu Ma
    Citation: Human Genomics 2023 17:36
    Content type: Database Published on:

  21. 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
    Content type: Research Published on:

  22. 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
    Content type: Research Published on:

  23. 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
    Content type: Research Published on:

  24. 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
    Content type: Correction Published on:

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

  26. 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
    Content type: Research Published on:

  27. 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
    Content type: Research Published on:

  28. 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
    Content type: Correspondence Published on:

  29. 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
    Content type: Research Published on:

  30. 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
    Content type: Research Published on:

  31. 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
    Content type: Research Published on:

  32. 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
    Content type: Research Published on:

  34. 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
    Content type: Research Published on:

  35. 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
    Content type: Research Published on:

  36. 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
    Content type: Database Published on:

  37. 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
    Content type: Research Published on:

  38. 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
    Content type: Research Published on:

  40. 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
    Content type: Research Published on:

  41. 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
    Content type: Research Published on:

  42. 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
    Content type: Research Published on:

  43. 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
    Content type: Research Published on:

  44. 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
    Content type: Research Published on:

  45. 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
    Content type: Research Published on:

  46. 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
    Content type: Research Published on:

  47. 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
    Content type: Research Published on:

  48. 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
    Content type: Research Published on:

  49. 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
    Content type: Perspective Published on:

  50. 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
    Content type: Research Published on:
Submit manuscript

Follow

Annual Journal Metrics

  • 2022 Citation Impact
    4.5 - 2-year Impact Factor
    4.9 - 5-year Impact Factor
    0.823 - SNIP (Source Normalized Impact per Paper)
    1.308 - SJR (SCImago Journal Rank)

    2023 Speed
    13 days submission to first editorial decision for all manuscripts (Median)
    91 days submission to accept (Median)

    2023 Usage
    761,045 downloads
    816 Altmetric mentions

Human Genomics

ISSN: 1479-7364