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  1. Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in...

    Authors: Hongbin Dong, Daniel W. Nebert, Elspeth A. Bruford, David C. Thompson, Hans Joenje and Vasilis Vasiliou
    Citation: Human Genomics 2015 9:32
  2. Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associate...

    Authors: Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu, Fengxiang Wang, Yiran Guo, Brendan Keating, Joseph Glessner, Jiankang Li, Theodore J. Ganley, Jianguo Zhang, Matthew A. Deardorff, Xun Xu and Hakon Hakonarson
    Citation: Human Genomics 2015 9:31

    The Erratum to this article has been published in Human Genomics 2016 10:5

  3. Medication overuse headache (MOH) is a common and debilitating disorder characterized by generation, perpetuation, and persistence of intense chronic migraine, caused by overuse of analgesics, triptans, or oth...

    Authors: Claudia Pisanu, Stefano Caproni, Donatella Congiu, Letizia M. Cupini, Alessio Squassina, George P. Patrinos, Ilenia Corbelli, Paolo Calabresi, Maria Del Zompo and Paola Sarchielli
    Citation: Human Genomics 2015 9:30
  4. The CpG island methylator phenotype (CIMP) was first characterized in colorectal cancer but since has been extensively studied in several other tumor types such as breast, bladder, lung, and gastric. CIMP is o...

    Authors: Matahi Moarii, Fabien Reyal and Jean-Philippe Vert
    Citation: Human Genomics 2015 9:26
  5. Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2). Recent studies have shown that t...

    Authors: Mary B. Mayes, Taniesha Morgan, Jincy Winston, Daniel S. Buxton, Mihir Anant Kamat, Debbie Smith, Maggie Williams, Rebecca L. Martin, Dirk A. Kleinjan, David N. Cooper, Meena Upadhyaya and Nadia Chuzhanova
    Citation: Human Genomics 2015 9:25
  6. “CCN” is an acronym referring to the first letter of each of the first three members of this original group of mammalian functionally and phylogenetically distinct extracellular matrix (ECM) proteins [i.e., cy...

    Authors: Izabela Krupska, Elspeth A. Bruford and Brahim Chaqour
    Citation: Human Genomics 2015 9:24
  7. Esophageal adenocarcinoma (EA) is among the leading causes of cancer mortality, especially in developed countries. A high level of somatic copy number alterations (CNAs) accumulates over the decades in the pro...

    Authors: Xiaoyu Wang, Xiaohong Li, Yichen Cheng, Xin Sun, Xibin Sun, Steve Self, Charles Kooperberg and James Y. Dai
    Citation: Human Genomics 2015 9:22
  8. Known examples of ancient identical-by-descent genetic variants being shared between evolutionarily related species, known as trans-species polymorphisms (TSPs), result from counterbalancing selective forces a...

    Authors: Luisa Azevedo, Catarina Serrano, Antonio Amorim and David N. Cooper
    Citation: Human Genomics 2015 9:21
  9. Many genetic variants have been identified in the human genome. The functional effects of a single variant have been intensively studied. However, the joint effects of multiple variants in the same genes have ...

    Authors: Mingming Liu, Layne T. Watson and Liqing Zhang
    Citation: Human Genomics 2015 9:18
  10. Genome-wide association studies of complex physiological traits and diseases consistently found that associated genetic factors, such as allelic polymorphisms or DNA mutations, only explained a minority of the...

    Authors: Marco Trerotola, Valeria Relli, Pasquale Simeone and Saverio Alberti
    Citation: Human Genomics 2015 9:17
  11. Fine scale population structure of Malays - the major population in Malaysia, has not been well studied. This may have important implications for both evolutionary and medical studies. Here, we investigated th...

    Authors: Boon-Peng Hoh, Lian Deng, Mat Jusoh Julia-Ashazila, Zakaria Zuraihan, Ma’amor Nur-Hasnah, Ab Rajab Nur‐Shafawati, Wan Isa Hatin, Ismail Endom, Bin Alwi Zilfalil, Yusoff Khalid and Shuhua Xu
    Citation: Human Genomics 2015 9:16
  12. Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural an...

    Authors: Mindy H. Li, Jenica L. Abrudan, Matthew C. Dulik, Ariella Sasson, Joshua Brunton, Vijayakumar Jayaraman, Noreen Dugan, Danielle Haley, Ramakrishnan Rajagopalan, Sawona Biswas, Mahdi Sarmady, Elizabeth T. DeChene, Matthew A. Deardorff, Alisha Wilkens, Sarah E. Noon, Maria I. Scarano…
    Citation: Human Genomics 2015 9:15
  13. SIRT1 is likely to play a role in the extension in healthspan induced by dietary restriction. Actions of SIRT1 are pleiotropic, and effects on healthspan may include effects on DNA methylation. Polycomb group ...

    Authors: Luisa A Wakeling, Laura J Ions, Suzanne M Escolme, Simon J Cockell, Tianhong Su, Madhurima Dey, Emily V Hampton, Gail Jenkins, Linda J Wainwright, Jill A McKay and Dianne Ford
    Citation: Human Genomics 2015 9:14
  14. Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of kidney-specific as well as multi-organ entities, many with highly variable phenotype-genotype relationships. The rapid increase in ...

    Authors: Andrew Mallett, Christopher Corney, Hugh McCarthy, Stephen I. Alexander and Helen Healy
    Citation: Human Genomics 2015 9:13
  15. Cancer, like many common disorders, has a complex etiology, often with a strong genetic component and with multiple environmental factors contributing to susceptibility. A considerable number of genomic varian...

    Authors: Ioannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, Cristiana Pavlidis, Brock A. Peters, Zoi Zagoriti, Peter D. Stenson, Konstantinos Mitropoulos, Joseph Borg, Haralabos P. Kalofonos, Radoje Drmanac, Andrew Stubbs, Peter van der Spek, David N. Cooper, Theodora Katsila and George P. Patrinos
    Citation: Human Genomics 2015 9:12
  16. In recent years, the translation of genomic discoveries into mainstream medical practice and public health has gained momentum, facilitated by the advent of new technologies. However, there are often major dis...

    Authors: Konstantinos Mitropoulos, Hayat Al Jaibeji, Diego A. Forero, Paul Laissue, Ambroise Wonkam, Catalina Lopez-Correa, Zahurin Mohamed, Wasun Chantratita, Ming Ta Michael Lee, Adrian Llerena, Angela Brand, Bassam R. Ali and George P. Patrinos
    Citation: Human Genomics 2015 9:11
  17. The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated tra...

    Authors: Marc S. Williams
    Citation: Human Genomics 2015 9:9
  18. The current practice of using only a few strongly associated genetic markers in regression models results in generally low power in prediction or accounting for heritability of complex human traits.

    Authors: Madhuchhanda Bhattacharjee, Mangalathu S. Rajeevan and Mikko J. Sillanpää
    Citation: Human Genomics 2015 9:8
  19. Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI of...

    Authors: Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu and Aare Märtson
    Citation: Human Genomics 2015 9:6
  20. Serogroup A of Neisseria meningitidis is the organism responsible for causing epidemic diseases in developing countries by a pilus-mediated adhesion to human brain endothelial cells. Type IV pilus assembly protei...

    Authors: Abijeet Singh Mehta, Kirti Snigdha, M Sharada Potukuchi and Panagiotis A Tsonis
    Citation: Human Genomics 2015 9:5
  21. The Editors of Human Genomics would like to thank all our reviewers who have contributed to the journal in volume 8 (2014).

    Authors: Vasilis Vasiliou
    Citation: Human Genomics 2015 9:4
  22. Neurofibromatosis type-1 (NF1) is a complex neurogenetic disorder characterised by the development of benign and malignant tumours of the peripheral nerve sheath (MPNSTs). Whilst biallelic NF1 gene inactivation c...

    Authors: Laura E Thomas, Jincy Winston, Ellie Rad, Matthew Mort, Kayleigh M Dodd, Andrew R Tee, Fionnuala McDyer, Stephen Moore, David N Cooper and Meena Upadhyaya
    Citation: Human Genomics 2015 9:3
  23. Breast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, tripl...

    Authors: Suqin Liu, Hongjiang Wang, Lizhi Zhang, Chuanning Tang, Lindsey Jones, Hua Ye, Liying Ban, Aman Wang, Zhiyuan Liu, Feng Lou, Dandan Zhang, Hong Sun, Haichao Dong, Guangchun Zhang, Zhishou Dong, Baishuai Guo…
    Citation: Human Genomics 2015 9:2
  24. This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including ra...

    Authors: Tesfaye B Mersha and Tilahun Abebe
    Citation: Human Genomics 2015 9:1

    The Correction to this article has been published in Human Genomics 2021 15:35

  25. Amphibians have the remarkable ability to regenerate missing body parts. After complete removal of the eye lens, the dorsal but not the ventral iris will transdifferentiate to regenerate an exact replica of th...

    Authors: Konstantinos Sousounis, Rital Bhavsar, Mario Looso, Marcus Krüger, Jessica Beebe, Thomas Braun and Panagiotis A Tsonis
    Citation: Human Genomics 2014 8:22
  26. Osteosarcoma (OS) is a prevalent primary malignant bone tumour with unknown etiology. These highly metastasizing tumours are among the most frequent causes of cancer-related deaths. Thus, there is an urgent ne...

    Authors: Ene Reimann, Sulev Kõks, Xuan Dung Ho, Katre Maasalu and Aare Märtson
    Citation: Human Genomics 2014 8:20
  27. There is an increasing demand to determine the clinical implication of experimental findings in molecular biomedical research. Survival (or failure time) analysis methodologies have been adapted to the analysi...

    Authors: Xintong Chen, Xiaochen Sun and Yujin Hoshida
    Citation: Human Genomics 2014 8:21
  28. Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenoty...

    Authors: Donna S Mackay, Thomas M Bennett, Susan M Culican and Alan Shiels
    Citation: Human Genomics 2014 8:19
  29. Rapid advances in human genomic research are increasing the availability of genomic data for secondary analysis. Particularly in the case of vulnerable African populations, ethics and informed consent processe...

    Authors: Galen EB Wright, Adebowale A Adeyemo and Nicki Tiffin
    Citation: Human Genomics 2014 8:18
  30. Biological systems are exquisitely poised to respond and adjust to challenges, including damage. However, sustained damage can overcome the ability of the system to adjust and result in a disease phenotype, it...

    Authors: Victoria Petri, G Thomas Hayman, Marek Tutaj, Jennifer R Smith, Stanley JF Laulederkind, Shur-Jen Wang, Rajni Nigam, Jeff De Pons, Mary Shimoyama, Melinda R Dwinell, Elizabeth A Worthey and Howard J Jacob
    Citation: Human Genomics 2014 8:17
  31. Embracing the complexity of biological systems has a greater likelihood to improve prediction of clinical drug response. Here we discuss limitations of a singular focus on genomics, epigenomics, proteomics, tr...

    Authors: Andrew A Monte, Chad Brocker, Daniel W Nebert, Frank J Gonzalez, David C Thompson and Vasilis Vasiliou
    Citation: Human Genomics 2014 8:16
  32. This is a report on a workshop titled ‘Ethics for genomic research across five African countries: Guidelines, experiences and challenges’, University of the Witwatersrand, Johannesburg, South Africa, 10 and 11...

    Authors: Michèle Ramsay, Jantina de Vries, Himla Soodyall, Shane A Norris and Osman Sankoh
    Citation: Human Genomics 2014 8:15
  33. Cross-species research in drug development is novel and challenging. A bivariate mixture model utilizing information across two species was proposed to solve the fundamental problem of identifying differential...

    Authors: Yuhua Su, Lei Zhu, Alan Menius and Jason Osborne
    Citation: Human Genomics 2014 8:12
  34. The processing and analysis of the large scale data generated by next-generation sequencing (NGS) experiments is challenging and is a burgeoning area of new methods development. Several new bioinformatics tool...

    Authors: Mehdi Pirooznia, Melissa Kramer, Jennifer Parla, Fernando S Goes, James B Potash, W Richard McCombie and Peter P Zandi
    Citation: Human Genomics 2014 8:14
  35. The use of radiation therapy is a cornerstone of modern cancer treatment. The number of patients that undergo radiation as a part of their therapy regimen is only increasing every year, but this does not come ...

    Authors: Leena Rivina, Michael Davoren and Robert H Schiestl
    Citation: Human Genomics 2014 8:13
  36. As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant ...

    Authors: Hashem A Shihab, Julian Gough, Matthew Mort, David N Cooper, Ian NM Day and Tom R Gaunt
    Citation: Human Genomics 2014 8:11
  37. Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild t...

    Authors: Amos Toren, Juergen K Reichardt, Ali Andalibi, Nancy Ya-Hsuan Hsu, Joni Doherty, William Slattery and Ruty Mehrian-Shai
    Citation: Human Genomics 2014 8:10
  38. Understanding genotype/phenotype relationships has become more complicated as increasing amounts of inter- and intra-tissue genetic heterogeneity have been revealed through next-generation sequencing and evide...

    Authors: Bruce Gottlieb, Lenore K Beitel and Mark Trifiro
    Citation: Human Genomics 2014 8:9
  39. Congenital heart defects (CHD) are the most common cause of death in children under the age of 1. Tetralogy of Fallot (TOF) is a severe CHD that results from developmental defects in the conotruncal outflow tr...

    Authors: Amy Rodemoyer, Nataliya Kibiryeva, Alexis Bair, Jennifer Marshall, James E O’Brien Jr and Douglas C Bittel
    Citation: Human Genomics 2014 8:6
  40. Deciphering of the information content of eukaryotic promoters has remained confined to universal landmarks and conserved sequence elements such as enhancers and transcription factor binding motifs, which are ...

    Authors: Zhe Jing, Rajendra K Gangalum, Dennis C Mock and Suraj P Bhat
    Citation: Human Genomics 2014 8:5

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