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Review Cycle Records

npj Genomic Medicine

Springer SCIE OA
2026新锐 2区2025中科院 2区2025 JCR Q1
177平均天数
171.5中位天数
97最短天数
257最长天数
872025发文量

Paper Review Records

全部论文审稿周期

10 篇有效样本 · 按发表日期由新到旧排列
审稿天数=录用日期-收稿日期;保留 PDF/DOI/网页源链接

257 天

Environmentally responsible human genomic data governance: points for consideration

作者Narcyz 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

作者单位1. 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

PDF源文件 DOI 网页
158 天

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

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

作者单位1. 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

PDF源文件 DOI 网页
97 天

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

作者J. Giacomotto

作者单位1. 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

PDF源文件 DOI 网页
151 天

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

作者Rebecca 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

作者单位1. 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

PDF源文件 DOI 网页
185 天

The clinical utility of carrier screening

作者Mia J. Gruzin; Leslie Burnett

作者单位1. 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

PDF源文件 DOI 网页
193 天

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

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

作者单位1. 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

PDF源文件 DOI 网页
141 天

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

作者Daniel Kuznicki; Paulina Galka-Marciniak; Malwina Suszynska; Piotr Kozlowski

作者单位1. Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland

PDF源文件 DOI 网页
146 天

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

作者Laura 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

作者单位1. 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

PDF源文件 DOI 网页
196 天

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

作者Xiaonan 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

作者单位1. 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

PDF源文件 DOI 网页
246 天

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

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

作者单位1. 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

PDF源文件 DOI 网页

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