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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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

  8. 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
  9. 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
  10. 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
  11. 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
  12. 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

  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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

  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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

  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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

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