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Review Cycle Records

npj Genomic Medicine

Springer SCIE OA
2026 Emerging Zone 22025 CAS Zone 22025 JCR Q1
177Average days
171.5Median days
97Fastest days
257Longest days
872025 publications

Paper Review Records

All Paper Review Records

10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.

257 days

Environmentally responsible human genomic data governance: points for consideration

AuthorsNarcyz Ghinea; Gabrielle Samuel; Wendy Xin; Emma Bonser; Robert Cook-Deegan; Monica Ferrie; Christopher Gyngell; Margaret Otlowski; Alan Petersen; Bridget Pratt; Susie Roczo-Farkas; Ainsley J. Newson

Affiliations1. Sydney Health Ethics Faculty of Medicine and Health, Sydney School of Public Health, University of Sydney, Sydney, Australia; 2. Department of Global Health and Social Medicine, King’s College London, London, UK; 3. Genetic Alliance Australia, Darlinghurst, Australia; 4. Arizona State University, Washington, USA; 5. Genetic Support Network Victoria, Parkville, Australia; 6. Department of Paediatrics, The University of Melbourne, Melbourne, Australia; 7. Biomedical Ethics, Murdoch Children’s Research Institute, Melbourne, Australia; 8. Melbourne Law School, The University of Melbourne, Parkville, Australia; 9. Faculty of Law, Centre for Law and Genetics, University of Tasmania, Hobart, Australia; 10. School of Social Sciences, Monash University, Clayton, Australia; 11. Queensland Bioethics Centre, Australian Catholic University, Brisbane, Australia; 12. School of Population and Global Health, University of Melbourne, Melbourne, Australia

Source PDF DOI Publisher page
158 days

aiDIVA – hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models

AuthorsDominic Boceck; Lucia Laugwitz; Marc Sturm; Daniela Bezdan; Axel Gschwind; Tobias B. Haack; Stephan Ossowski

Affiliations1. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; 2. Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany; 3. Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, Tübingen, Germany; 4. Institute of Pathology, University Hospital Ulm, Ulm, Germany; 5. Center for Rare Disease, University of Tübingen, Tübingen, Germany; 6. Center for Personalized Medicine, University of Tübingen, Tübingen, Germany

Source PDF DOI Publisher page
97 days

Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies

AuthorsJ. Giacomotto

Affiliations1. Institute for Biomedicine and Glycomics, Griffith University, Brisbane, Australia; 2. School of Environment and Science Griffith University, Brisbane, Australia; 3. Queensland Brain Institute, The University of Queensland, Brisbane, Australia; 4. Thomson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, Australia

Source PDF DOI Publisher page
151 days

Building a Precision Health Ecosystem: Singapore’s Approach to Innovation through the Clinical Implementation Pilots

AuthorsRebecca Caeser; Doreen Low; Irenaeus Chia; David Matchar; Mikael Hartman; Yi Wang; Jingmei Li; Ken Redekop; Tavintharan Subramaniam; Sharon Li Ting Pek; Hwee Lin Wee; Goh Boon Cher; Suchin Virabhak; Shih Wee Seow; John C. Chambers; Patrick Tan; Ee Shien Tan; Kar Hui Ng; Joanne Ngeow; E Shyong Tai

Affiliations1. Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore; 2. Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore; 3. Precision Health Research, Singapore, Singapore; 4. Duke University, Department of Medicine (General Internal Medicine) and Pathology, Durham, USA; 5. Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore; 6. Department of Surgery, National University Health System, 1E Kent Ride Road, Tower Block, University Surgical Cluster, Level 8, Singapore City, Singapore; 7. Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore; 8. Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; 9. Genome Institute of Singapore, Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore; 10. Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; 11. National Cancer Centre Singapore, Singapore Health Services (SingHealth), Singapore, Singapore; 12. Erasmus School of Health Policy and Management, Erasmus University Rotterdam, Rotterdam, The Netherlands; 13. Diabetes Centre, Admiralty Medical Centre, Singapore, Singapore; 14. Clinical Research Unit, Khoo Teck Puat Hospital, Singapore, Singapore; 15. Department of Haematology-Oncology, National University Cancer Institute, Singapore, Singapore; 16. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore; 17. Department of Epidemiology and Biostatistics, School of Public Health Faculty of Medicine, Imperial College London, London, UK; 18. SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore; 19. Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore; 20. Duke-National University of Singapore (NUS) Medical School, National University of, Singapore, Singapore; 21. Genetics Service, Department of Pediatrics, Kadang Kerbau (KK) Women’s and Children’s Hospital, Singapore, Singapore; 22. Khoo Teck Puat-National University Children’s Medical Institute, National University Health System, Singapore, Singapore; 23. Department of Paediatrics, Yong Loo Lin School of Medicine; National University of Singapore, Singapore, Singapore

Source PDF DOI Publisher page
185 days

The clinical utility of carrier screening

AuthorsMia J. Gruzin; Leslie Burnett

Affiliations1. Garvan Institute of Medical Research, Darlinghurst, Australia; 2. School of Clinical Medicine, UNSW Medicine and Health, St Vincent’s Clinical Healthcare Campus, UNSW Sydney, Darlinghurst, Australia; 3. Virtus Diagnostics, Revesby, Australia

Source PDF DOI Publisher page
193 days

An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders

AuthorsCathy Shyr; Rory J. Tinker; Rebekah F. Brown; Adam Wright; Josh F. Peterson; John A. Phillips; S. Trent Rosenbloom; Lisa Bastarache

Affiliations1. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, USA; 2. Department of Pediatrics, Vanderbilt University Medical Center, Nashville, USA; 3. Department of Biostatistics, Vanderbilt University Medical Center, Nashville, USA; 4. Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, USA; 5. Department of Medicine, Vanderbilt University Medical Center, Nashville, USA

Source PDF DOI Publisher page
141 days

BCL2 promoter region mutations are an independent marker of BCL2 level in lymphoid malignancies

AuthorsDaniel Kuznicki; Paulina Galka-Marciniak; Malwina Suszynska; Piotr Kozlowski

Affiliations1. Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland

Source PDF DOI Publisher page
146 days

Two cases of mosaic germline SVA insertions in SMARCB1 : implications for rhabdoid tumour predisposition diagnosis

AuthorsLaura Raiti; Kyoko E. Yuki; Lise Cinq-Mars; Edward J. Higginbotham; Vilma Navickiene; Yisu Li; Zhuozhi Wang; Bhooma Thiruv; Tristan Charlinski; Bailey Gallinger; Rosemarie E. Venier; Annie Huang; Avram Denburg; Kathy Chun; Anita Villani

Affiliations1. Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada; 2. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada; 3. Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada; 4. Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, Canada; 5. The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada; 6. Department of Molecular Genetics, University of Toronto, Toronto, Canada; 7. Department of Paediatrics, University of Toronto, Toronto, Canada; 8. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada

Source PDF DOI Publisher page
196 days

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes

AuthorsXiaonan Zhao; Robert Rigobello; Morgan Driver; Sydney Lau; Mei Ling Chong; Jason Chibuk; Hongzheng Dai; Wilson C. W. Wu; Christina Peroutka; Laura Famularo; Alexander Y. Kim; Bailey Hummel; Sarah Dugan; Tinsley Douglas; Linyan Meng; Fan Xia; Christine M. Eng

Affiliations1. Baylor Genetics, Houston, USA; 2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA; 3. Department of Pediatrics, University of Virginia, Charlottesville, USA; 4. University of Virginia Medical Center, Charlottesville, USA; 5. Division of Genetics, Department of Medicine, Johns Hopkins All Children’s Hospital, St. Petersburg, USA; 6. Providence Genetics Clinic, Providence Medical Group, Spokane, USA

Source PDF DOI Publisher page
246 days

The Role of MYH6 Variants in atrial cardiomyopathy: insights from clinical observations and zebrafish models

AuthorsYike Zhang; Qing Wang; Xiangao Ji; Zhou Xu; Jingzhe Hao; Yue Zhu; Jia Song; Hongwu Chen; Zhiyong Zhang; Chang Cui; Minglong Chen

Affiliations1. Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 2. Department of Cardiology, The Fourth Affiliated Hospital of Nanjing Medical University, Nanjing, China; 3. Department of Medicine, Section of Cardiovascular Research, Baylor College of Medicine, Houston, USA; 4. Department of Cardiology, The Affiliated Suqian First People’s Hospital of Nanjing Medical University, Suqian, China

Source PDF DOI Publisher page

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Machine Learning and Life-Cycle Assessment for Predicting and Optimizing Carbon Emissions in Urban Wastewater Treatment

SampleLatest 5 valid paper samples from 2026

Average review96.4 days

Median77 days

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