生物学
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12 篇有效样本 · 按发表日期由新到旧排列
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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
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
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
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
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
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
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
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
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
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
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