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  1. Large-scale pharmacogenomic resources, such as the Connectivity Map (CMap), have greatly assisted computational drug discovery. However, despite their widespread use, CMap-based methods have thus far been agno...

    Authors: Arda Halu, Sarvesh Chelvanambi, Julius L. Decano, Joan T. Matamalas, Mary Whelan, Takaharu Asano, Namitra Kalicharran, Sasha A. Singh, Joseph Loscalzo and Masanori Aikawa
    Citation: Genome Medicine 2025 17:7
    Content type: Research Published on:

  2. Central nervous system tumors are among the most lethal types of cancer. A critical factor for tailored neurosurgical resection strategies depends on specific tumor types. However, it is uncommon to have a pre...

    Authors: Francesco E. Emiliani, Abdol Aziz Ould Ismail, Edward G. Hughes, Gregory J. Tsongalis, George J. Zanazzi and Chun-Chieh Lin
    Citation: Genome Medicine 2025 17:6
    Content type: Methodology Published on:

  3. Despite extensive analysis, the dynamic changes in prostate epithelial cell states during tissue homeostasis as well as tumor initiation and progression have been poorly characterized. However, recent advances...

    Authors: Luis Aparicio, Laura Crowley, John R. Christin, Caroline J. Laplaca, Hanina Hibshoosh, Raul Rabadan and Michael M. Shen
    Citation: Genome Medicine 2025 17:5
    Content type: Research Published on:

  4. Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is...

    Authors: Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez and Jose A. Lopez-Escamez
    Citation: Genome Medicine 2025 17:4
    Content type: Research Published on:

  5. Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time,...

    Authors: Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló…
    Citation: Genome Medicine 2025 17:3
    Content type: Research Published on:

  6. Senescence classification is an acknowledged challenge within the field, as markers are cell-type and context dependent. Currently, multiple morphological and immunofluorescence markers are required. However, ...

    Authors: Bethany K. Hughes, Andrew Davis, Deborah Milligan, Ryan Wallis, Federica Mossa, Michael P. Philpott, Linda J. Wainwright, David A. Gunn and Cleo L. Bishop
    Citation: Genome Medicine 2025 17:2
    Content type: Research Published on:

  7. A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the p...

    Authors: Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert and Joris Robert Vermeesch
    Citation: Genome Medicine 2025 17:1
    Content type: Research Published on:

  8. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although thes...

    Authors: A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay…
    Citation: Genome Medicine 2024 16:154
    Content type: Guideline Published on:

  11. The impact of community carriage on the influx of extended-spectrum beta-lactamase-producing Enterobacterales (ESBL-E) into hospitals remains understudied. In this prospective 2-year single-centre study, we in...

    Authors: Minh Ngoc Nguyen, Beryl Primrose Gladstone, Giulia De Angelis, Michael Biggel, Basil Britto Xavier, Christine Lammens, Qiang Lin, Sandra Van Puyvelde, Herman Goossens, Samir Kumar-Singh, Youri Glupczynski, Yehuda Carmeli, Evelina Tacconelli and Surbhi Malhotra-Kumar
    Citation: Genome Medicine 2024 16:151
    Content type: Research Published on:

  12. The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript det...

    Authors: Reece K. Hart, Ivo F. A. C. Fokkema, Marina DiStefano, Ros Hastings, Jeroen F. J. Laros, Rachel Taylor, Alex H. Wagner and Johan T. den Dunnen
    Citation: Genome Medicine 2024 16:149
    Content type: Guideline Published on:

  13. Ireland’s COVID-19 response combined extensive SARS-CoV-2 testing to estimate incidence, with whole genome sequencing (WGS) for genome surveillance. As an island with two political jurisdictions―Northern Irela...

    Authors: Alan M. Rice, Evan P. Troendle, Stephen J. Bridgett, Behnam Firoozi Nejad, Jennifer M. McKinley, Declan T. Bradley, Derek J. Fairley, Connor G. G. Bamford, Timofey Skvortsov and David A. Simpson
    Citation: Genome Medicine 2024 16:150
    Content type: Research Published on:

  14. Understanding the stepwise progression of esophageal squamous cell carcinoma (ESCC) is crucial for developing customized strategies for early detection and optimal clinical management. Herein, we aimed to unra...

    Authors: Rutao Li, Na Li, Qianqian Yang, Xing Tong, Wei Wang, Chang Li, Jun Zhao, Dong Jiang, Haitao Huang, Chen Fang, Kai Xie, Jiamin Yuan, Shaomu Chen, Guangbin Li, Haitao Luo, Zhibo Gao…
    Citation: Genome Medicine 2024 16:148
    Content type: Research Published on:

  15. The occurrence of post-traumatic stress disorder (PTSD) following a traumatic event is associated with biological differences that can represent the susceptibility to PTSD, the impact of trauma, or the sequela...

    Authors: Seyma Katrinli, Agaz H. Wani, Adam X. Maihofer, Andrew Ratanatharathorn, Nikolaos P. Daskalakis, Janitza Montalvo-Ortiz, Diana L. Núñez-Ríos, Anthony S. Zannas, Xiang Zhao, Allison E. Aiello, Allison E. Ashley-Koch, Diana Avetyan, Dewleen G. Baker, Jean C. Beckham, Marco P. Boks, Leslie A. Brick…
    Citation: Genome Medicine 2024 16:147
    Content type: Research Published on:

  16. MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying ...

    Authors: Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey…
    Citation: Genome Medicine 2024 16:146
    Content type: Research Published on:

  17. The introduction of poly(ADP-ribose) polymerase (PARP) inhibitors represented a paradigm shift in the treatment of ovarian cancer. Genomic data from patients with high-grade ovarian cancer in six phase II/III ...

    Authors: Alan Barnicle, Isabelle Ray-Coquard, Etienne Rouleau, Karen Cadoo, Fiona Simpkins, Carol Aghajanian, Alexandra Leary, Andrés Poveda, Stephanie Lheureux, Eric Pujade-Lauraine, Benoit You, Jonathan Ledermann, Ursula Matulonis, Charlie Gourley, Kirsten M. Timms, Zhongwu Lai…
    Citation: Genome Medicine 2024 16:145
    Content type: Research Published on:

  18. Clear cell renal cell carcinoma (ccRCC) tumours develop and progress via complex remodelling of the kidney epigenome, transcriptome, proteome and metabolome. Given the subsequent tumour and inter-patient heter...

    Authors: Ariane Mora, Christina Schmidt, Brad Balderson, Christian Frezza and Mikael Bodén
    Citation: Genome Medicine 2024 16:144
    Content type: Research Published on:

  19. Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract and invasive infections. The emergence of β-lactamase-negative ampicillin-resistant (BLNAR) strains and unclea...

    Authors: Margo Diricks, Sabine Petersen, Lennart Bartels, Thiên-Trí Lâm, Heike Claus, Maria Paula Bajanca-Lavado, Susanne Hauswaldt, Ricardo Stolze, Omar Jiménez Vázquez, Christian Utpatel, Stefan Niemann, Jan Rupp, Inken Wohlers and Matthias Merker
    Citation: Genome Medicine 2024 16:140
    Content type: Research Published on:

  20. Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style functional data may help resolve variant classification disparities bet...

    Authors: Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza…
    Citation: Genome Medicine 2024 16:143
    Content type: Research Published on:

  22. Blood cultures are essential for diagnosing bloodstream infections, but current phenotypic tests for antimicrobial resistance (AMR) provide limited information. Oxford Nanopore Technologies introduces nanopore...

    Authors: Po-Yu Liu, Han-Chieh Wu, Ying-Lan Li, Hung-Wei Cheng, Ci-Hong Liou, Feng-Jui Chen and Yu-Chieh Liao
    Citation: Genome Medicine 2024 16:141
    Content type: Research Published on:

  23. CRISPR-Cas9 technology has revolutionised genetic screens and can inform on gene essentiality and chemo-genetic interactions. It is easily deployed and widely supported with many pooled CRISPR libraries availa...

    Authors: Simon Lam, John C. Thomas and Stephen P. Jackson
    Citation: Genome Medicine 2024 16:139
    Content type: Software Published on:

  24. Lung cancer brain metastases (LC-BrMs) are frequently associated with dismal mortality rates in patients with lung cancer; however, standard of care therapies for LC-BrMs are still limited in their efficacy. A...

    Authors: Hao Duan, Jianlan Ren, Shiyou Wei, Zhenyu Yang, Chuan Li, Zhenning Wang, Meichen Li, Zhi Wei, Yu Liu, Xiuqi Wang, Hongbin Lan, Zhen Zeng, Maodi Xie, Yuan Xie, Suwen Wu, Wanming Hu…
    Citation: Genome Medicine 2024 16:138
    Content type: Research Published on:

  25. Multidrug-resistant organisms (MDRO) pose a significant threat to public health worldwide. The ability to identify antimicrobial resistance determinants, to assess changes in molecular types, and to detect tra...

    Authors: Fabian Landman, Casper Jamin, Angela de Haan, Sandra Witteveen, Jeroen Bos, Han G. J. van der Heide, Leo M. Schouls and Antoni P. A. Hendrickx
    Citation: Genome Medicine 2024 16:137
    Content type: Research Published on:

  26. Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene function and vulnerabilities conferred by such mutations are required.

    Authors: Yuka Takemon, Erin D. Pleasance, Alessia Gagliardi, Christopher S. Hughes, Veronika Csizmok, Kathleen Wee, Diane L. Trinh, Ryan D. Huff, Andrew J. Mungall, Richard A. Moore, Eric Chuah, Karen L. Mungall, Eleanor Lewis, Jessica Nelson, Howard J. Lim, Daniel J. Renouf…
    Citation: Genome Medicine 2024 16:136
    Content type: Research Published on:

  27. The association between increased cancer risk following a cerebrovascular event (CVE) has been previously reported. We hypothesize that biological age (B-age) acceleration is involved in this association. Our ...

    Authors: Antoni Suárez-Pérez, Adrià Macias-Gómez, Isabel Fernández-Pérez, Marta Vallverdú-Prats, Elisa Cuadrado-Godia, Eva Giralt-Steinhauer, Maia Campanale, Daniel Guisado-Alonso, Ana Rodríguez-Campello, Joan Jiménez-Balado, Jordi Jiménez-Conde and Angel Ois
    Citation: Genome Medicine 2024 16:135
    Content type: Research Published on:

  28. Inter- and intra-tumor heterogeneity is considered a significant factor contributing to the development of endocrine resistance in breast cancer. Recent advances in single-cell RNA sequencing (scRNA-seq) and s...

    Authors: Kun Fang, Aigbe G. Ohihoin, Tianxiang Liu, Lavanya Choppavarapu, Bakhtiyor Nosirov, Qianben Wang, Xue-Zhong Yu, Sailaja Kamaraju, Gustavo Leone and Victor X. Jin
    Citation: Genome Medicine 2024 16:134
    Content type: Research Published on:

  29. Despite remarkable achievements in applying chimeric antigen receptor (CAR)-T cells to treat hematological malignancies, they remain much less effective against solid tumors, facing several challenges affectin...

    Authors: Tongpeng Xu, Tian Tian, Chen Wang, Xiaofeng Chen, Xiangrong Zuo, Hanyu Zhou, Jianan Bai, Chenhui Zhao, Sujie Fu, Chongqi Sun, Ting Wang, Ling Zhu, Jingzhi Zhang, Enxiu Wang, Ming Sun and Yongqian Shu
    Citation: Genome Medicine 2024 16:133
    Content type: Research Published on:

  30. Neoantigen-targeting therapies including personalized vaccines have shown promise in the treatment of cancers, particularly when used in combination with checkpoint blockade therapy. At least 100 clinical tria...

    Authors: Huiming Xia, My H. Hoang, Evelyn Schmidt, Susanna Kiwala, Joshua McMichael, Zachary L. Skidmore, Bryan Fisk, Jonathan J. Song, Jasreet Hundal, Thomas Mooney, Jason R. Walker, S. Peter Goedegebuure, Christopher A. Miller, William E. Gillanders, Obi L. Griffith and Malachi Griffith
    Citation: Genome Medicine 2024 16:132
    Content type: Software Published on:

  31. Neoantigen vaccines can induce or enhance highly specific antitumor immune responses with minimal risk of autoimmunity. We have developed a neoantigen DNA vaccine platform capable of efficiently presenting bot...

    Authors: Xiuli Zhang, S. Peter Goedegebuure, Michael Y. Chen, Rashmi Mishra, Felicia Zhang, Yik Yeung Yu, Kartik Singhal, Lijin Li, Feng Gao, Nancy B. Myers, Tammi Vickery, Jasreet Hundal, Michael D. McLellan, Mark A. Sturmoski, Samuel W. Kim, Ina Chen…
    Citation: Genome Medicine 2024 16:131
    Content type: Research Published on:

  32. Clinically important lineages in Klebsiella, especially those expressing multi-drug resistance (MDR), pose severe threats to public health worldwide. They arose from the co-evolution of the vertically inherited c...

    Authors: Heng Li, Xiao Liu, Shengkai Li, Jie Rong, Shichang Xie, Yuan Gao, Ling Zhong, Quangui Jiang, Guilai Jiang, Yi Ren, Wanping Sun, Yuzhi Hong and Zhemin Zhou
    Citation: Genome Medicine 2024 16:130
    Content type: Software Published on:

  33. Circular RNAs (circRNAs) are highly stable regulators, often accumulated in mammalian brains and thought to serve as “memory molecules” that govern the long process of aging. Mounting evidence demonstrated cir...

    Authors: Feng Wang, Yangping Li, Huifeng Shen, Paula Martinez-Feduchi, Xingyu Ji, Peng Teng, Siddharth Krishnakumar, Jian Hu, Li Chen, Yue Feng and Bing Yao
    Citation: Genome Medicine 2024 16:129
    Content type: Research Published on:

  34. Phenotypic age (PhenoAge), a widely used marker of biological aging, has been shown to be a robust predictor of all-cause mortality and morbidity in different populations. Existing studies on biological aging ...

    Authors: Li Chen, Karen Mei-Ling Tan, Jia Xu, Priti Mishra, Sartaj Ahmad Mir, Min Gong, Kothandaraman Narasimhan, Bryan Ng, Jun Shi Lai, Mya Thway Tint, Shirong Cai, Suresh Anand Sadananthan, Navin Michael, Jadegoud Yaligar, Sambasivam Sendhil Velan, Melvin Khee Shing Leow…
    Citation: Genome Medicine 2024 16:128
    Content type: Research Published on:

  35. Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust ...

    Authors: T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E. Hunt, Elena Cibrian Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline F. Wright and Helen V. Firth
    Citation: Genome Medicine 2024 16:127
    Content type: Method Published on:

  36. Circular RNAs (circRNAs) have emerged as a prominent class of covalently closed single-stranded RNA molecules that exhibit tissue-specific expression and potential as biomarkers in extracellular vesicles (EVs)...

    Authors: Jingjing Zhao, Qiaojuan Li, Jia Hu, Hongwu Yu, Youmin Shen, Hongyan Lai, Qin Li, Hena Zhang, Yan Li, Zhuting Fang and Shenglin Huang
    Citation: Genome Medicine 2024 16:126
    Content type: Research Published on:

  37. Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at...

    Authors: Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R. A. Thomas, Sarah Ennis, Angharad M. Roberts and James S. Ware
    Citation: Genome Medicine 2024 16:125
    Content type: Research Published on:

  39. Streptococcus pneumoniae is a major cause of mortality globally. The introduction of pneumococcal conjugate vaccines (PCVs) has reduced the incidence of the targeted serotypes significantly, but expansion of non-...

    Authors: Vegard Eldholm, Magnus N. Osnes, Martha L. Bjørnstad, Daniel Straume and Rebecca A. Gladstone
    Citation: Genome Medicine 2024 16:123
    Content type: Research Published on:

  40. Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment. Interrogating functional genetic variants enhances our understanding of disease pathog...

    Authors: Robert Carreras-Torres, Iván Galván-Femenía, Xavier Farré, Beatriz Cortés, Virginia Díez-Obrero, Anna Carreras, Ferran Moratalla-Navarro, Susana Iraola-Guzmán, Natalia Blay, Mireia Obón-Santacana, Víctor Moreno and Rafael de Cid
    Citation: Genome Medicine 2024 16:122
    Content type: Research Published on:

  41. Progressive hearing loss is a common problem in the human population with no effective therapeutics currently available. However, it has a strong genetic contribution, and investigating the genes and regulator...

    Authors: Morag A. Lewis, Maria Lachgar-Ruiz, Francesca Di Domenico, Graham Duddy, Jing Chen, Sergio Fernandez, Matias Morin, Gareth Williams, Miguel Angel Moreno Pelayo and Karen P. Steel
    Citation: Genome Medicine 2024 16:121
    Content type: Research Published on:

  42. Altered metabolism plays a role in the pathophysiology of cardiac diseases, such as atrial fibrillation (AF) and heart failure (HF). We aimed to identify novel plasma metabolites and proteins associating with ...

    Authors: Marion van Vugt, Chris Finan, Sandesh Chopade, Rui Providencia, Connie R. Bezzina, Folkert W. Asselbergs, Jessica van Setten and A. Floriaan Schmidt
    Citation: Genome Medicine 2024 16:120
    Content type: Research Published on:

  43. Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA s...

    Authors: Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra…
    Citation: Genome Medicine 2024 16:119
    Content type: Research Published on:

  44. Liquid biopsy based on cell-free DNA (cfDNA) analysis holds significant promise as a minimally invasive approach for the diagnosis, genotyping, and monitoring of solid malignancies. Human tumors release cfDNA ...

    Authors: Valeria Pessei, Marco Macagno, Elisa Mariella, Noemi Congiusta, Vittorio Battaglieri, Paolo Battuello, Marco Viviani, Giulia Gionfriddo, Simona Lamba, Annalisa Lorenzato, Daniele Oddo, Fariha Idrees, Alessandro Cavaliere, Alice Bartolini, Simonetta Guarrera, Michael Linnebacher…
    Citation: Genome Medicine 2024 16:118
    Content type: Research Published on:

  45. Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major constituents of the uncharted dark genome and evade conventional sequencing approaches. The ...

    Authors: Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Lukas Forer, Silvia Di Maio, Hansi Weissensteiner, Bernhard Paulweber, Sebastian Schönherr, Florian Kronenberg and Stefan Coassin
    Citation: Genome Medicine 2024 16:117
    Content type: Research Published on:

  46. Epigenetic clocks are mathematical models used to estimate epigenetic age based on DNA methylation at specific CpG sites. As new methylation microarrays are developed and older models discontinued, existing ep...

    Authors: Leonardo D. Garma and Miguel Quintela-Fandino
    Citation: Genome Medicine 2024 16:116
    Content type: Research Published on:

    The Correction to this article has been published in Genome Medicine 2024 16:142

  47. Foodborne infections such as listeriosis caused by the bacterium Listeria monocytogenes represent a significant public health concern, particularly when outbreaks affect many individuals over prolonged time. Syst...

    Authors: Sven Halbedel, Sabrina Wamp, Raskit Lachmann, Alexandra Holzer, Ariane Pietzka, Werner Ruppitsch, Hendrik Wilking and Antje Flieger
    Citation: Genome Medicine 2024 16:115
    Content type: Research Published on:

  48. Whole-genome sequencing (WGS) analyses have found higher genetic burden in autistic females compared to males, supporting higher liability threshold in females. However, genomic evidence of sex differences has...

    Authors: Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jungeun Ji, Jung Woo Park, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Jaewon Kim, Ashish Jung, Junehawk Lee, Eunha Kim…
    Citation: Genome Medicine 2024 16:114
    Content type: Research Published on:

  49. Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection. Th...

    Authors: Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan and Yongguo Yu
    Citation: Genome Medicine 2024 16:113
    Content type: Research Published on:

  50. X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologica...

    Authors: Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould…
    Citation: Genome Medicine 2024 16:112
    Content type: Research Published on:
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Genome Medicine

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