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  1. Genome sequencing has utility, however, it may reveal secondary findings. While Western bioethicists have been occupied with managing secondary findings, specialists’ attention in the Arabic countries has not ...

    Authors: Azhar T. Rahma, Aminu S. Abdullahi, Giulia Graziano and Iffat Elbarazi
    Citation: Human Genomics 2023 17:98
  2. Alternative splicing (AS) plays a crucial role in transcriptomic diversity and is a hallmark of cancer that profoundly influences the development and progression of prostate cancer (PCa), a prevalent and poten...

    Authors: Zhuofan Mou, Jack Spencer, John S. McGrath and Lorna W. Harries
    Citation: Human Genomics 2023 17:97
  3. Fragmentomics, the investigation of fragmentation patterns of cell-free DNA (cfDNA), has emerged as a promising strategy for the early detection of multiple cancers in the field of liquid biopsy. However, the ...

    Authors: Jaeryuk Kim, Seung-Pyo Hong, Seyoon Lee, Woochan Lee, Dakyung Lee, Rokhyun Kim, Young Jun Park, Sungji Moon, Kyunghyuk Park, Bukyoung Cha and Jong-Il Kim
    Citation: Human Genomics 2023 17:96
  4. Mitogen-activated protein kinases 1 and 3 (MAPK1 and MAPK3), also called extracellular regulated kinases (ERK2 and ERK1), are serine/threonine kinase activated downstream by the Ras/Raf/MEK/ERK signal transduc...

    Authors: Maria Petrosino, Leonore Novak, Alessandra Pasquo, Paola Turina, Emidio Capriotti, Velia Minicozzi, Valerio Consalvi and Roberta Chiaraluce
    Citation: Human Genomics 2023 17:95
  5. Tooth agenesis is a common dental anomaly that can substantially affect both the ability to chew and the esthetic appearance of patients. This study aims to identify possible genetic factors that underlie vari...

    Authors: Siyue Yao, Xi Zhou, Min Gu, Chengcheng Zhang, Oliver Bartsch, Barbara Vona, Liwen Fan, Lan Ma and Yongchu Pan
    Citation: Human Genomics 2023 17:93
  6. Congenital heart defects (CHDs) affect approximately half of individuals with Down syndrome (DS), but the molecular reasons for incomplete penetrance are unknown. Previous studies have largely focused on ident...

    Authors: Julia S. Mouat, Shaobo Li, Swe Swe Myint, Benjamin I. Laufer, Philip J. Lupo, Jeremy M. Schraw, John P. Woodhouse, Adam J. de Smith and Janine M. LaSalle
    Citation: Human Genomics 2023 17:92
  7. Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of pare...

    Authors: Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan and Brian H. Y. Chung
    Citation: Human Genomics 2023 17:91
  8. Previous studies have proposed that food intakes are associated with the risk of urolithiasis. Here, we conducted a two-sample Mendelian randomization (MR) study to evaluate the causal effects of different foo...

    Authors: Yiwei Lin, Cheng Zhou, Yuqing Wu, Hong Chen, Liping Xie and Xiangyi Zheng
    Citation: Human Genomics 2023 17:89
  9. Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of he...

    Authors: Susanna Nousiainen, Outi Kuismin, Siiri Reinikka, Roosa Manninen, Sara Khamaiseh, Mari Kuivalainen, Anna Terho, Sari Koivurova, Maarit Niinimäki, Kari Salokas, Markku Varjosalo, Anne Ahtikoski, Ralf Bützow, Outi Lindgren, Outi Uimari and Pia Vahteristo
    Citation: Human Genomics 2023 17:88
  10. In clinical practice, digestive symptoms such as nausea, vomiting are frequently observed in COVID-19 patients. However, the causal relationship between COVID-19 and digestive diseases remains unclear.

    Authors: Zhiqi Wang, Huanyu Zhou, Shurui Zhang, Fei Wang and Haishan Huang
    Citation: Human Genomics 2023 17:87
  11. Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease, with unclear pathogenesis. Although immune disorders, especially T cell infiltration, are thought to play a vital role in PSC, the s...

    Authors: Jian Zhang, Huiwen Wang, Jinqing Liu, Lei Fu and Shifang Peng
    Citation: Human Genomics 2023 17:86
  12. Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional protein involved in many cellular processes, but the m...

    Authors: Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch and Judith Armstrong
    Citation: Human Genomics 2023 17:85
  13. The ATP-binding cassette subfamily B member 1 (ABCB1), encoding a multidrug transporter referred to as P-glycoprotein (Pgp), plays a critical role in the efflux of xenobiotics in humans and is implicated in ca...

    Authors: Jinhee Park, Hyosung Kim, Leen Alabdalla, Smriti Mishra and Hassane Mchaourab
    Citation: Human Genomics 2023 17:84
  14. This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of t...

    Authors: Leon Marković, Anja Bukovac, Ana Maria Varošanec, Nika Šlaus and Nives Pećina-Šlaus
    Citation: Human Genomics 2023 17:82
  15. Our study aims to investigate an intrinsic link underlying sex hormone-binding globulin (SHBG) and rheumatoid arthritis (RA), which remains inconclusive in observational settings.

    Authors: Yuan Jiang, Qianwen Liu, Lars Alfredsson, Lars Klareskog, Ingrid Kockum and Xia Jiang
    Citation: Human Genomics 2023 17:81
  16. Over the last century, outbreaks and pandemics have occurred with disturbing regularity, necessitating advance preparation and large-scale, coordinated response. Here, we developed a machine learning predictiv...

    Authors: Georgia Charkoftaki, Reza Aalizadeh, Alvaro Santos-Neto, Wan Ying Tan, Emily A. Davidson, Varvara Nikolopoulou, Yewei Wang, Brian Thompson, Tristan Furnary, Ying Chen, Elsio A. Wunder, Andreas Coppi, Wade Schulz, Akiko Iwasaki, Richard W. Pierce, Charles S. Dela Cruz…
    Citation: Human Genomics 2023 17:80
  17. 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 17:79

    The original article was published in Human Genomics 2023 17:55

  18. The RNA m6A modification has been implicated in multiple neurological diseases as well as macrophage activation. However, whether it regulates microglial activation during hypoxic-ischemic brain damage (HIBD) ...

    Authors: Xiaojuan Su, Lingyi Huang, Shiping Li, Junjie Ying, Fengyan Zhao, Shaopu Wang, Qian Liu, Yi Qu and Dezhi Mu
    Citation: Human Genomics 2023 17:78
  19. Thalassemia is an extremely prevalent monogenic inherited blood disorder in southern China. It is important to comprehensively understand the molecular spectrum of thalassemia in an area with such a high preva...

    Authors: Tong Yang, Xuemei Luo, Yanqiu Liu, Min Lin, Qinfei Zhao, Wenqian Zhang, Zhigang Chen, Minghua Dong, Junli Wang, Qi Wang, Xiaokang Zhang and Tianyu Zhong
    Citation: Human Genomics 2023 17:77
  20. As one of the most common intestinal inflammatory diseases, celiac disease (CD) is typically characterized by an autoimmune disorder resulting from ingesting gluten proteins. Although the incidence and prevale...

    Authors: Tao Shen, Haiyang Wang, Rongkang Hu and Yanni Lv
    Citation: Human Genomics 2023 17:76
  21. Diagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility is emerging as a key next step, however ambiguity in the conceptualisation and measurem...

    Authors: Andrew Mallett, Zornitza Stark, Zoe Fehlberg, Stephanie Best and Ilias Goranitis
    Citation: Human Genomics 2023 17:75
  22. Authors: Ning-Yuan Lee, Melissa Hum, Sabna Zihara, Lanying Wang, Matthew K. Myint, Darren Wan-Teck Lim, Chee-Keong Toh, Anders Skanderup, Jens Samol, Min-Han Tan, Peter Ang, Soo-Chin Lee, Eng-Huat Tan, Gillianne G. Y. Lai, Daniel S. W. Tan, Yoon-Sim Yap…
    Citation: Human Genomics 2023 17:74

    The original article was published in Human Genomics 2023 17:66

  23. Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and complex regions of the genome makes them ideal for clinical applications in molecular dia...

    Authors: Josephine B. Oehler, Helen Wright, Zornitza Stark, Andrew J. Mallett and Ulf Schmitz
    Citation: Human Genomics 2023 17:73
  24. Head and neck cancers are a complex malignancy comprising multiple anatomical sites, with cancer of the oral cavity ranking among the deadliest and the most disfiguring cancers globally. Oral cancer (OC) const...

    Authors: Mohammed Muzamil Khan, Jennifer Frustino, Alessandro Villa, Bach-Cuc Nguyen, Sook-Bin Woo, William Evan Johnson, Xaralabos Varelas, Maria Kukuruzinska and Stefano Monti
    Citation: Human Genomics 2023 17:72
  25. Marine seaweeds are considered as a rich source of health-promoting compounds by the food and pharmaceutical industry. Hypnea musciformis is a marine red macroalga (seaweed) that is widely distributed throughout ...

    Authors: Rodiola Begolli, Myrto Chatziangelou, Martina Samiotaki, Andreas Goutas, Sofia Barda, Nikolaos Goutzourelas, Dimitrios Phaedon Kevrekidis, Paraskevi Malea, Varvara Trachana, Ming Liu, Xiukun Lin, Nikolaos Kollatos, Dimitrios Stagos and Antonis Giakountis
    Citation: Human Genomics 2023 17:71
  26. ALS is a heterogeneous disease in which different factors such as mitochondrial phenotypes act in combination with a genetic predisposition. This study addresses the question of whether homoplasmic (total mito...

    Authors: Sarah J. Brockmann, Eva Buck, Tiziana Casoli, João L. Meirelles, Wolfgang P. Ruf, Paolo Fabbietti, Karlheinz Holzmann, Jochen H. Weishaupt, Albert C. Ludolph, Fiorenzo Conti and Karin M. Danzer
    Citation: Human Genomics 2023 17:70
  27. Cardiovascular diseases (CVDs) are the leading cause of death worldwide. Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) appearing in non-coding genomic regio...

    Authors: Chaonan Zhu, Nina Baumgarten, Meiqian Wu, Yue Wang, Arka Provo Das, Jaskiran Kaur, Fatemeh Behjati Ardakani, Thanh Thuy Duong, Minh Duc Pham, Maria Duda, Stefanie Dimmeler, Ting Yuan, Marcel H. Schulz and Jaya Krishnan
    Citation: Human Genomics 2023 17:69
  28. Three and a half years after the pandemic outbreak, now that WHO has formally declared that the emergency is over, COVID-19 is still a significant global issue. Here, we focus on recent developments in genetic...

    Authors: Michela Biancolella, Vito Luigi Colona, Lucio Luzzatto, Jessica Lee Watt, Giorgio Mattiuz, Silvestro G. Conticello, Naftali Kaminski, Ruty Mehrian-Shai, Albert I. Ko, Gregg S. Gonsalves, Vasilis Vasiliou, Giuseppe Novelli and Juergen K. V. Reichardt
    Citation: Human Genomics 2023 17:68
  29. To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically...

    Authors: Antonella De Lillo, Frank R. Wendt, Gita A. Pathak and Renato Polimanti
    Citation: Human Genomics 2023 17:67
  30. Cancer predisposition is most often studied in the context of single cancers. However, inherited cancer predispositions can also give rise to multiple primary cancers. Yet, there is a paucity of studies on gen...

    Authors: Ning-Yuan Lee, Melissa Hum, Sabna Zihara, Lanying Wang, Matthew K. Myint, Darren Wan-Teck Lim, Chee-Keong Toh, Anders Skanderup, Jens Samol, Min-Han Tan, Peter Ang, Soo-Chin Lee, Eng-Huat Tan, Gillianne G. Y. Lai, Daniel S. W. Tan, Yoon-Sim Yap…
    Citation: Human Genomics 2023 17:66

    The Correction to this article has been published in Human Genomics 2023 17:74

  31. Female breast cancer remains the second leading cause of cancer-related death in the USA. The heterogeneity in the tumor morphology across the cohort and within patients can lead to unpredictable therapy resis...

    Authors: Neetha Nanoth Vellichirammal, Yuan-De Tan, Peng Xiao, James Eudy, Oleg Shats, David Kelly, Michelle Desler, Kenneth Cowan and Chittibabu Guda
    Citation: Human Genomics 2023 17:64
  32. The adoption and implementation of genomic medicine and pharmacogenomics (PGx) in healthcare systems have been very slow and limited worldwide. Major barriers to knowledge translation into clinical practice li...

    Authors: Azhar T. Rahma, Bassam R. Ali, George P. Patrinos, Luai A. Ahmed, Iffat Elbarazi, Aminu S. Abdullahi, Mahanna Elsheik, Maram Abbas, Farah Afandi, Aisha Alnaqbi and Fatma Al Maskari
    Citation: Human Genomics 2023 17:63
  33. This pilot study aims to identify and functionally assess pharmacovariants in whole exome sequencing data. While detection of known variants has benefited from pharmacogenomic-dedicated bioinformatics tools be...

    Authors: Alireza Tafazoli, John Mikros, Faeze Khaghani, Maliheh Alimardani, Mahboobeh Rafigh, Mahboobeh Hemmati, Stavroula Siamoglou, Agnieszka Kitlas Golińska, Karol A. Kamiński, Magdalena Niemira, Wojciech Miltyk and George P. Patrinos
    Citation: Human Genomics 2023 17:62
  34. MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Differential miRNA expression, which is widely shown to be associated with the pathogenesis of various diseases, can be influenced by ...

    Authors: Irma Karabegović, Silvana C. E. Maas, Yu Shuai, M. Arfan Ikram, Bruno Stricker, Joachim Aerts, Guy Brusselle, Lies Lahousse, Trudy Voortman and Mohsen Ghanbari
    Citation: Human Genomics 2023 17:61
  35. This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variabl...

    Authors: Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi and Ikhlas A. Sindi
    Citation: Human Genomics 2023 17:60
  36. The influence of genetic factors on the pharmacokinetics and clinical outcomes of rivaroxaban in patients with non-valvular atrial fibrillation (NVAF) is poorly understood. This study aimed to explore the effe...

    Authors: Tingting Wu, Shuyi Wu, Li Li, Jing Xiang, Na Wang, Wenjun Chen and Jinhua Zhang
    Citation: Human Genomics 2023 17:59
  37. Wastewater-based epidemiological surveillance has been considered a powerful tool for early detection and monitoring of the dynamics of SARS-CoV-2 and its lineages circulating in a community. This study is aim...

    Authors: Rehnuma Haque, Mohammad Enayet Hossain, Mojnu Miah, Mahbubur Rahman, Nuhu Amin, Ziaur Rahman, Md. Shariful Islam and Mohammed Ziaur Rahman
    Citation: Human Genomics 2023 17:58
  38. Alzheimer’s disease (AD) poses a profound human, social, and economic burden. Previous studies suggest that extra virgin olive oil (EVOO) may be helpful in preventing cognitive decline. Here, we present a netw...

    Authors: Luís Rita, Natalie R. Neumann, Ivan Laponogov, Guadalupe Gonzalez, Dennis Veselkov, Domenico Pratico, Reza Aalizadeh, Nikolaos S. Thomaidis, David C. Thompson, Vasilis Vasiliou and Kirill Veselkov
    Citation: Human Genomics 2023 17:57
  39. 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

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

  40. 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
  41. 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
  42. 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
  43. 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
  44. 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

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