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Review Cycle Records

HUMAN GENETICS

Springer SCIE Non-OA
2026 Emerging Zone 22025 CAS Zone 22025 JCR Q2
267.5Average days
255.5Median days
86Fastest days
511Longest days
782025 publications

Paper Review Records

All Paper Review Records

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

194 days

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

AuthorsRosa 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

Affiliations1. 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

Source PDF DOI Publisher page
425 days

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

AuthorsSarah 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

Affiliations1. 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

Source PDF DOI Publisher page
511 days

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

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

Affiliations1. Banco Nacional de Datos Genéticos, Ciudad Autónoma de Buenos Aires, Argentina

Source PDF DOI Publisher page
185 days

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

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

Affiliations1. Medical School, Department of Medical Genetics, University of Pecs, Pecs, Hungary

Source PDF DOI Publisher page
260 days

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

AuthorsMichiel 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

Affiliations1. 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

Source PDF DOI Publisher page
139 days

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

AuthorsShuyi 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

Affiliations1. 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

Source PDF DOI Publisher page
309 days

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

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

Affiliations1. 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

Source PDF DOI Publisher page
86 days

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

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

Affiliations1. 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

Source PDF DOI Publisher page
432 days

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

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

Affiliations1. 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

Source PDF DOI Publisher page
109 days

The Russian FSHD registry: a first look at the cohort

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

Affiliations1. Research Centre for Medical Genetics, Moscow, Russia

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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