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  1. In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discovered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly from...

    Authors: Nasna Nassir, Asma Bankapur, Bisan Samara, Abdulrahman Ali, Awab Ahmed, Ibrahim M. Inuwa, Mehdi Zarrei, Seyed Ali Safizadeh Shabestari, Ammar AlBanna, Jennifer L. Howe, Bakhrom K. Berdiev, Stephen W. Scherer, Marc Woodbury-Smith and Mohammed Uddin

    Citation: Human Genomics 2021 15:68

    Content type: Primary research

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  2. Heart failure (HF) is one of the most common complications of cardiovascular diseases (CVDs) and among the leading causes of death in the US. Many other CVDs can lead to increased mortality as well. Investigat...

    Authors: Zeeshan Ahmed, Saman Zeeshan and Bruce T. Liang

    Citation: Human Genomics 2021 15:67

    Content type: Primary research

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  3. Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with...

    Authors: Michela Biancolella, Nabonswindé Lamoussa Marie Ouédraogo, Nayi Zongo, Théodora Mahoukèdè Zohoncon, Barbara Testa, Barbara Rizzacasa, Andrea Latini, Chiara Conte, Tégwindé Rebeca Compaore, Charlemagne Marie Rayang-Newendé Ouedraogo, Si Simon Traore, Jacques Simpore and Giuseppe Novelli

    Citation: Human Genomics 2021 15:65

    Content type: Primary research

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  4. Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabet...

    Authors: Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida and Mohamed Denguezli

    Citation: Human Genomics 2021 15:63

    Content type: Primary research

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  5. Pharmacists play a unique role in integrating genomic medicine and pharmacogenomics into the clinical practice and to translate pharmacogenomics from bench to bedside. However, the literature suggests that the...

    Authors: Azhar T. Rahma, Iffat Elbarazi, Bassam R. Ali, George P. Patrinos, Luai A. Ahmed, Mahanna Elsheik and Fatma Al-Maskari

    Citation: Human Genomics 2021 15:62

    Content type: Primary research

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  6. Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the gen...

    Authors: Shaza Malik, Roan Zaied, Najeeb Syed, Puthen Jithesh and Mashael Al-Shafai

    Citation: Human Genomics 2021 15:61

    Content type: Primary research

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  7. Single-variant associations with age-related macular degeneration (AMD), one of the most prevalent causes of irreversible vision loss worldwide, have been studied extensively. However, because of a lack of ref...

    Authors: Chris M. Pappas, Moussa A. Zouache, Stacie Matthews, Caitlin D. Faust, Jill L. Hageman, Brandi L. Williams, Burt T. Richards and Gregory S. Hageman

    Citation: Human Genomics 2021 15:60

    Content type: Primary research

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  8. Low-pass sequencing (LPS) has been extensively investigated for applicability to various genetic studies due to its advantages over genotype array data including cost-effectiveness. Predicting the risk of comp...

    Authors: Sungjae Kim, Jong-Yeon Shin, Nak-Jung Kwon, Chang-Uk Kim, Changhoon Kim, Chong Sik Lee and Jeong-Sun Seo

    Citation: Human Genomics 2021 15:58

    Content type: Primary research

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  9. Whether microRNAs (miRNAs) from plasma exosomes might be dysregulated in patients with depression, especially treatment-resistant depression (TRD), remains unclear, based on study of which novel biomarkers and...

    Authors: Lian-Di Li, Muhammad Naveed, Zi-Wei Du, Huachen Ding, Kai Gu, Lu-Lu Wei, Ya-Ping Zhou, Fan Meng, Chun Wang, Feng Han, Qi-Gang Zhou and Jing Zhang

    Citation: Human Genomics 2021 15:55

    Content type: Primary research

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  10. The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyz...

    Authors: Nicholas Yan Chai Cheung, Jasmine Lee Fong Fung, Yvette Nga Chung Ng, Wilfred Hing Sang Wong, Claudia Ching Yan Chung, Christopher Chun Yu Mak and Brian Hon Yin Chung

    Citation: Human Genomics 2021 15:54

    Content type: Primary research

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  11. Skin cutaneous melanoma (SKCM) is one of the most highly prevalent and complicated malignancies. Glycolysis and cholesterogenesis pathways both play important roles in cancer metabolic adaptations. The main ai...

    Authors: Enchong Zhang, Yijing Chen, Shurui Bao, Xueying Hou, Jing Hu, Oscar Yong Nan Mu, Yongsheng Song and Liping Shan

    Citation: Human Genomics 2021 15:53

    Content type: Primary research

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  12. Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exom...

    Authors: Mohamed Abouelhoda, Dania Mohty, Islam Alayary, Brian F. Meyer, Stefan T. Arold, Bahaa M. Fadel and Dorota Monies

    Citation: Human Genomics 2021 15:52

    Content type: Primary research

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  13. The field of pharmacogenomics focuses on the way a person’s genome affects his or her response to a certain dose of a specified medication. The main aim is to utilize this information to guide and personalize ...

    Authors: Maria-Theodora Pandi, Maria Koromina, Iordanis Tsafaridis, Sotirios Patsilinakos, Evangelos Christoforou, Peter J. van der Spek and George P. Patrinos

    Citation: Human Genomics 2021 15:51

    Content type: Primary research

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  14. The diagnostic process for uncommon disorders with similar manifestations is complicated and requires newer technology, like gene sequencing for a correct diagnosis.

    Authors: Samantha S. Sáenz, Benjamin Arias, Kazuyoshi Hosomichi and Vanessa I. Romero

    Citation: Human Genomics 2021 15:49

    Content type: Review

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  15. Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and tr...

    Authors: Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras and Rita Guerreiro

    Citation: Human Genomics 2021 15:48

    Content type: Primary research

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  16. Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWA...

    Authors: John L. Slunecka, Matthijs D. van der Zee, Jeffrey J. Beck, Brandon N. Johnson, Casey T. Finnicum, René Pool, Jouke-Jan Hottenga, Eco J. C. de Geus and Erik A. Ehli

    Citation: Human Genomics 2021 15:46

    Content type: Review

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  17. Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroima...

    Authors: Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi and Ali Reza Tavasoli

    Citation: Human Genomics 2021 15:45

    Content type: Primary research

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  18. Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo n...

    Authors: Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman…

    Citation: Human Genomics 2021 15:44

    Content type: Primary research

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  19. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the...

    Authors: Yang Zhao, Hao Guo, Wenda Wang, Guoyang Zheng, Zhan Wang, Xu Wang and Yushi Zhang

    Citation: Human Genomics 2021 15:43

    Content type: Primary research

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  20. Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exom...

    Authors: Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii, Mohammad Reza Moradi, Reza Pazhoomand, Shima Farrokhi, Masoumeh Heidari Feizabadi, Farzaneh Alizadeh and Majid Mojarrad

    Citation: Human Genomics 2021 15:42

    Content type: Primary research

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  21. To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT se...

    Authors: Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang and Aihua Yin

    Citation: Human Genomics 2021 15:41

    Content type: Primary research

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  22. Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multip...

    Authors: Xiaofen Qiu, Haiyan Yu, Hongwei Wu, Zhiyang Hu, Jun Zhou, Hua Lin, Wen Xue, Wanxia Cai, Jiejing Chen, Qiang Yan, Weier Dai, Ming Yang, Donge Tang and Yong Dai

    Citation: Human Genomics 2021 15:40

    Content type: Primary research

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  23. Liver cancer is one of the most common cancers and causes of cancer death worldwide. The objective was to elucidate novel hub genes which were benefit for diagnosis, prognosis, and targeted therapy in liver cance...

    Authors: Xinyi Lei, Miao Zhang, Bingsheng Guan, Qiang Chen, Zhiyong Dong and Cunchuan Wang

    Citation: Human Genomics 2021 15:39

    Content type: Primary research

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  24. Acute myeloid leukemia (AML) is recognized as a hematological neoplasm with heterogenetic cytology and short-term outcome. HCP5 has been proven to be related with the pathogenesis of AML. However, the underlyi...

    Authors: Yan Liu, Xue-Bing Jing, Zhen-Cheng Wang and Qing-Kun Han

    Citation: Human Genomics 2021 15:38

    Content type: Primary research

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  25. Genetic disposition is considered critical for identifying subjects at high risk for disease development. Investigating disease-causing and high and low expressed genes can support finding the root causes of u...

    Authors: Zeeshan Ahmed, Eduard Gibert Renart, Saman Zeeshan and XinQi Dong

    Citation: Human Genomics 2021 15:37

    Content type: Primary research

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  26. Mitochondrial genome copy number (MT-CN) varies among humans and across tissues and is highly heritable, but its causes and consequences are not well understood. When measured by bulk DNA sequencing in blood, ...

    Authors: Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel, Chul Joo Kang, Alexandra Scott, Aki Havulinna, Charleston W. K. Chiang, Susan Service, Nelson Freimer…

    Citation: Human Genomics 2021 15:34

    Content type: Primary research

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  27. Recent efforts in the field of nutritional science have allowed the discovery of disease-beating molecules within foods based on the commonality of bioactive food molecules to FDA-approved drugs. The pioneerin...

    Authors: Guadalupe Gonzalez, Shunwang Gong, Ivan Laponogov, Michael Bronstein and Kirill Veselkov

    Citation: Human Genomics 2021 15:33

    Content type: Primary research

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  28. For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the...

    Authors: Kariofyllis Karamperis, Maria T. Tsoumpeli, Fotios Kounelis, Maria Koromina, Christina Mitropoulou, Catia Moutinho and George P. Patrinos

    Citation: Human Genomics 2021 15:32

    Content type: Review

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  29. UDP-glucuronosyltransferases (UGTs) are the main phase II drug-metabolizing enzymes mediating the most extensive glucuronidation-binding reaction in the human body. The UGT1A family is involved in more than ha...

    Authors: Cui-Lan Meng, Wei Zhao and Dan-Ni Zhong

    Citation: Human Genomics 2021 15:30

    Content type: Review

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  30. Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and...

    Authors: Laksmi Wulandari, Berliana Hamidah, Cennikon Pakpahan, Nevy Shinta Damayanti, Neneng Dewi Kurniati, Christophorus Oetama Adiatmaja, Monica Rizky Wigianita, Soedarsono, Dominicus Husada, Damayanti Tinduh, Cita Rosita Sigit Prakoeswa, Anang Endaryanto, Ni Nyoman Tri Puspaningsih, Yasuko Mori, Maria Inge Lusida, Kazufumi Shimizu…

    Citation: Human Genomics 2021 15:29

    Content type: Primary research

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  31. Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a hi...

    Authors: Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim…

    Citation: Human Genomics 2021 15:28

    Content type: Primary research

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  32. COVID-19 has engulfed the world and it will accompany us all for some time to come. Here, we review the current state at the milestone of 1 year into the pandemic, as declared by the WHO (World Health Organiza...

    Authors: Giuseppe Novelli, Michela Biancolella, Ruty Mehrian-Shai, Vito Luigi Colona, Anderson F. Brito, Nathan D. Grubaugh, Vasilis Vasiliou, Lucio Luzzatto and Juergen K. V. Reichardt

    Citation: Human Genomics 2021 15:27

    Content type: Review

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    The Editorial to this article has been published in Human Genomics 2021 15:57

  33. Mathematical approaches have been for decades used to probe the structure of nucleotide sequences. This has led to the development of Bioinformatics. In this exploratory work, a novel mathematical method is ap...

    Authors: Anastasios A. Tsonis, Geli Wang, Lvyi Zhang, Wenxu Lu, Aristotle Kayafas and Katia Del Rio-Tsonis

    Citation: Human Genomics 2021 15:26

    Content type: Primary research

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    The Correction to this article has been published in Human Genomics 2021 15:31

  34. Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...

    Authors: Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi and Allison Piovesan

    Citation: Human Genomics 2021 15:25

    Content type: Primary research

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  35. The occurrence of osteoarthritis is related to genetic and environmental factors. Among them, the change of chondrocyte gene expression pattern regulated by epigenetic modification is an important participant....

    Authors: Guoliang Wang, Yanlin Li, Guang Yang, Tengyun Yang, Lu He and Yang Wang

    Citation: Human Genomics 2021 15:24

    Content type: Primary research

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  36. Currently, Chlamydia trachomatis–specific host defense mechanisms in humans remain poorly defined. To study the characteristics of host cells infected early with Chlamydia trachomatis, we used bioinformatics meth...

    Authors: Guo-Dong Zhu, Xun-Jie Cao, Ya-Ping Li, Jia-Xin Li, Zi-Jian Leng, Li-Min Xie and Xu-Guang Guo

    Citation: Human Genomics 2021 15:22

    Content type: Primary research

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  37. Non-small cell lung carcinoma (NSCLC) is one of the most common human cancers, comprising approximately 80–85% of all lung carcinomas. An estimated incidence of NSCLC is approximately 2 million new cases per y...

    Authors: Ya-jun Zhou, Wei Zheng, Qing-hua Zeng, Yang Ye, Ce Wang, Cheng Fang, Chao-jun Liu, Li Niu and Li-ming Wu

    Citation: Human Genomics 2021 15:21

    Content type: Primary research

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