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Review Cycle Records

HUMAN GENETICS

Springer SCIE 非OA
2026新锐 2区2025中科院 2区2025 JCR Q2
267.5平均天数
255.5中位天数
86最短天数
511最长天数
782025发文量

Paper Review Records

全部论文审稿周期

12 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

194 天

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders

作者Rosa Catalina Lederbogen; Sabine Hoffjan; Cornelia Köhler; Charlotte Thiels; Ulrike Angelika Mau-Holzmann; Sylke Singer; Sabrina Schreiber; Anne Purczeld; Rebecca Buchert; Maria Viktorovna Yusenko; Hoa Huu Phuc Nguyen; Wanda Maria Gerding

作者单位1. Department of Human Genetics, Ruhr-University, Bochum, Germany; 2. Center for Rare Diseases Ruhr (CeSER), Bochum, Germany; 3. Department of Neuropediatrics, University Children’s Hospital, Ruhr-University Bochum, Bochum, Germany; 4. Institute of Medical Genetics and Applied Genomics, University Tübingen, Tübingen, Germany; 5. MVZ Dr. Eberhard & Partner, Dortmund, Germany; 6. LADR Medizinisches Versorgungszentrum Recklinghausen eGbR, Recklinghausen, Germany

PDF源文件 DOI 网页
425 天

Development of RS1 -specific ACMG/AMP variant classification criteria with pilot variant curation

作者Sarah Hull; M. Mero; W. Hankey; K. Lee; L. S. Sullivan; R. Ayyagari; M. D. Benson; L. Haer-Wigman; R. B. Hufnagel; H. M. J. Hussain; K. Kämpjärvi; P. A. Sieving; M. Wang; G. Wang; C. Zeitz; R. A. Lewis; R. Chen; K. C. Worley

作者单位1. Department of Ophthalmology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand; 2. Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, USA; 3. Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, USA; 4. Human Genetics Center, School of Public Health, The UT Health Science Center, Houston, USA; 5. The Viterbi Family Department of Ophthalmology, UC San Diego Health, University of California San Diego, La Jolla, USA; 6. Department of Ophthalmology & Visual Science, University of Alberta, Edmonton, Canada; 7. Radboud University Medical Center, Nijmegen, Netherlands; 8. Center for Integrated Healthcare Research, Kaiser Permanente, Honolulu, USA; 9. Blueprint Genetics, Espoo, Finland; 10. Ophthalmology & Vision Science, UC Davis, Davis, USA; 11. Department of Ophthalmology, Gavin Herbert Eye Institute – Center for Translational Vision Research, University of California Irvine School of Medicine, Irvine, USA; 12. Labcorp, San Francisco, USA; 13. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 14. Department of Ophthalmology, Baylor College of Medicine, Houston, USA

PDF源文件 DOI 网页
511 天

Integrating genetic, historical, and demographic evidence to reconstruct Argentina’s matrilineal ancestry

作者F. Gagliardi; R. Fernández; V. Genoud; F. Picado; S. Biagini; N. Furman; M. Herrera Piñero; A. C. Mayordomo

作者单位1. Banco Nacional de Datos Genéticos, Ciudad Autónoma de Buenos Aires, Argentina

PDF源文件 DOI 网页
185 天

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

作者Renata Szalai; Agnes Till; Krisztina Galimurka; Zsolt Banfai; Anna Zsigmond; Kinga Hadzsiev

作者单位1. Medical School, Department of Medical Genetics, University of Pecs, Pecs, Hungary

PDF源文件 DOI 网页
260 天

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer

作者Michiel Vlaming; Lambertus A. L. M. Kiemeney; Wouter Koole; Inge M. van Oort; Eveline M. A. Bleiker; Margreet G. E. M. Ausems; Geert W. J. Frederix

作者单位1. Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; 2. Department of Urology, Radboud university medical center, Nijmegen, The Netherlands; 3. Science Department IQ Health, Radboud university medical center, Nijmegen, The Netherlands; 4. Department of Urology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; 5. Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; 6. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; 7. Department of Clinical Genetics, The Netherlands Cancer Institute, Amsterdam, The Netherlands; 8. Department of Epidemiology and Health Economics, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands

PDF源文件 DOI 网页
139 天

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China

作者Shuyi Li; Yuchun Wang; Qu Shen; Jinguo Zan; Mengying Han; Zishuai Huang; Rui Wang; Xinyi Wang; Haifeng He; Le Tao; Hao Ma; Kongyang Zhu; Yetao Zou; Huangzhen Huang; Haodong Chen; Li Jin; Hui Li; Chuan-Chao Wang

作者单位1. Ministry of Education Key Laboratory of Contemporary Anthropology, Center for Evolutionary Biology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, China; 2. Fujian Provincial Key Laboratory of Philosophy and Social Sciences in Bioanthropology, Institute of Anthropology, Xiamen University, Xiamen, China; 3. School of Humanities, Fujian University of Technology, Fuzhou, China; 4. Shandong Provincial Institute of Cultural Relics and Archaeology, Jinan, China; 5. School of Life Sciences, Xiamen University, Xiamen, China; 6. Institute of Forensic Science, School of Forensic Medicine and Science, Fudan University, Shanghai, China; 7. Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria; 8. State Key Laboratory of Genetic and Development of Complex Phenotypes, School of Life Sciences & Human Phenome Institute, Fudan University, Shanghai, China

PDF源文件 DOI 网页
309 天

Clinical and zebrafish studies of truncating SF3B2- variants in craniofacial microsomia

作者Dan Xia; Xiaofang Peng; Zihao Deng; Shuyun Deng; Zhanwen He; Jieming Zhang; Xiaoqin Xiao; Xi Sun; Xiao Qian; Xueyuan Zhang; Liyang Liang; Xiaojuan Li

作者单位1. Cellular and Molecular Diagnostics Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China; 2. Sino-French Hoffmann Institute, School of Basic Medical Science, Guangzhou Medical University, Guangzhou, China; 3. Department of Children’s Neuro-endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China; 4. Cipher Gene LLC, Beijing, China; 5. Department of Otolaryngology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

PDF源文件 DOI 网页
86 天

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs

作者Dawid Skoczek; Jerzy Hohendorff; Maciej T. Malecki; Alicia Roig-Merino; Rasmus O. Bak; Neli Kachamakova-Trojanowska

作者单位1. Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland; 2. Doctoral School of Exact and Natural Sciences, Jagiellonian University, Krakow, Poland; 3. Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland; 4. MaxCyte Inc, Rockville, USA; 5. Department of Biomedicine, Aarhus University, Aarhus, Denmark

PDF源文件 DOI 网页
432 天

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing

作者S Rehan Ahmad; Md. Zeyaullah; Mohammad Suhail Khan; Abdelrhman A. G. Altijani; Ali Mohieldin; Khursheed Muzammil

作者单位1. Hiralal Mazumdar Memorial College for Women, West Bengal State University, Kolkata, India; 2. Department of Basic Medical Science, College of Applied Medical Sciences, King Khalid University (KKU), Abha, Saudi Arabia; 3. Department of Public Health, College of Applied Medical Sciences, King Khalid University (KKU), Abha, Saudi Arabia

PDF源文件 DOI 网页
109 天

The Russian FSHD registry: a first look at the cohort

作者Anna Kuchina; Darya Sherstyukova; Artem Borovikov; Margarita Soloshenko; Nikolay Zernov; Dmitrii Subbotin; Elena Dadali; Inna Sharkova; Galina Rudenskaya; Sergey Kutsev; Mikhail Skoblov; Aysylu Murtazina

作者单位1. Research Centre for Medical Genetics, Moscow, Russia

PDF源文件 DOI 网页

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《融合机器学习与生命周期评价的城市污水处理碳排放预测与优化》

样本口径2026 年最近 5 篇有效论文样本

平均审稿96.4 天

中位数77 天

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