Paper Review Records
All Paper Review Records
14 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey
AuthorsYumiko Goto; Tomoko Seki; Daisuke Nakato; Kohei Nakamura; Tomoko Yoshihama; Masayuki Tanaka; Ikumi Ono; Kumiko Misu; Yusuke Kobayashi; Kenta Masuda; Hiromasa Takaishi; Wataru Yamagami; Kenjiro Kosaki
Affiliations1. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; 2. Center for Preventive Medicine, Keio University School of Medicine, Tokyo, Japan; 3. Center for Hereditary Breast and Ovarian Cancer Syndrome, Keio University Hospital, Tokyo, Japan; 4. Department of Surgery, Keio University School of Medicine, Tokyo, Japan; 5. Center for Cancer Genomics, Keio University School of Medicine, Tokyo, Japan; 6. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; 7. Nursing Department, Keio University Hospital, Tokyo, Japan
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI
AuthorsSara H. El-Dessouky; Wessam E. Sharaf-Eldin; Islam F. Soliman; Mona M. Aboulghar; Ahmed Abou El-Serour; Ashraf Ali; Sameh Senousy; Lova Matsa; Mohamed Maher; Dalia S. Zolfokar; Mohamed A. Youssef; Hatem A. Mousa; Maha M. Eid; Maha S. Zaki; Ebtesam M. Abdalla
Affiliations1. Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; 2. Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; 3. Department of Andrology, Faculty of Medicine, Cairo University, Cairo, Egypt; 4. Armed Forces College of Medicine - Andrology Unit, Cairo, Egypt; 5. Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt; 6. Department of Obstetrics and Gynecology, Al Azhar University, Cairo, Egypt; 7. Department of Reproductive Health and Family Planning, National Research Centre, Cairo, Egypt; 8. Genomic Precision Diagnostic Department, Igenomix, Dubai, United Arab Emirates; 9. South Tees Hospitals, Middlesbrough, United Kingdom; 10. Maternal and Fetal Medicine Unit, University Hospitals of Leicester NHS Trust, Leicester, UK; 11. Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; 12. Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; 13. Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt
Functional effect predictions for ion channel missense variants using a protein language model
AuthorsSeán Gies; Artoghrul Alishbayli; Paul H. E. Tiesinga; Marijn B. Martens
Affiliations1. Synaptica Ltd, Nijmegen, The Netherlands; 2. Dept of Neurophysics, Donders Centre for Neuroscience, Donders Institute, Radboud University Nijmegen, Nijmegen, The Netherlands
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study
AuthorsShiho Uchida; Yuki Mizuguchi; Suguru Sato; Kou Sueoka; Mamoru Tanaka
Affiliations1. Department of Obstetrics and Gynecology, Keio University School of Medicine, Shinjuku-ku, Japan; 2. Rose Ladies Clinic, Setagaya-ku, Japan; 3. Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka City, Japan; 4. Fujisawa IVF Clinic, Fujisawa City, Japan
Implementation of comprehensive genome analysis in clinical sequencing at an academic institution
AuthorsNaoko Saito-Sato; Masaki Tanaka; Junko Nomoto; Kanako Koike Fukushima; Masakazu Nishigaki; Shoji Tsuji
Affiliations1. Center for Genetic Diagnosis, International University of Health and Welfare Narita hospital, Narita-shi, Japan; 2. Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan; 3. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi-cho, Tokyo, Japan; 4. Department of Genetic Counseling, International University of Health and Welfare Graduate School, 4-1-26 Akasaka, Minato, Tokyo, Japan
Gastrointestinal involvement in Ehlers–Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant
AuthorsHikaru Nakahara; Tomomi Yamaguchi; Hiroaki Niitsu; Akiko Abe; Ryohei Hayashi; Shiro Oka; Koji Arihiro; Tomoki Kosho; Takao Hinoi
Affiliations1. Department of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan; 2. Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan; 3. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; 4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan; 5. Department of Nursing, Hiroshima University Hospital, Hiroshima, Japan; 6. Department of Gastroenterology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan; 7. Department of Endoscopy, Hiroshima Prefectural Hospital, Hiroshima, Japan; 8. Department of Anatomical Pathology, Hiroshima University Hospital, Hiroshima, Japan; 9. Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan; 10. BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan; 11. Genomic Medicine Center, Hiroshima University Hospital, Hiroshima, Japan
HOXB13 , a high-risk prostate cancer gene, also confers risk for breast cancer: novel variants of clinical significance, especially in hormone-positive patients
AuthorsFiliz Ozen; Zeynep Yegin; Diyar Sayit
Affiliations1. Medical Genetics Clinic, Istanbul Göztepe Prof. Dr. Süleyman Yalçın City Hospital, Istanbul, Turkey; 2. Medical Laboratory Techniques Program, Vocational School of Health Services, Sinop University, Sinop, Turkey
Transfer RNA-derived small RNAs: from biogenesis to regulatory roles in male reproductive system
AuthorsXiaodan Jiang; Xinliang Gu; Yang Li; Xiaojue Chen; Shaoqing Ju
Affiliations1. Department of Laboratory Medicine, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, China; 2. Research Center of Clinical Medicine, Affiliated Hospital of Nantong University, Nantong, China; 3. General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China; 4. Department of Radiation Oncology, Affiliated Hospital of Nantong University, Nantong, China
Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China
AuthorsFen Lin; Shi-Xiong Yang; Yi-Yuan Ge; Ying Yang; Long-Xu Xie; Li-Ye Yang
Affiliations1. Precision Medical Lab Center, Chaozhou Central Hospital, Chaozhou, China; 2. Central Research Laboratory, the Central Hospital of Xiaogan, Xiaogan, China; 3. Guangzhou Hybribio Medicine Technology Ltd., Guangzhou, China; 4. Precision Medical Lab Center, People’s Hospital of Yangjiang, Yangjiang, China
Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review
AuthorsŞule Altıner; Ezgi Gökpınar İli; Ahmet Karer Yurtdaş; Okan Kurtçu; Neslihan Doğulu; Ayşe Öktem; Engin Köse; Fatma Tuba Eminoğlu; Behiye Tuğçe Yıldırım; Ayça Dilruba Aslanger; Gözde Yeşil Sayın; Halil Gürhan Karabulut
Affiliations1. Ankara University, School of Medicine, Department of Medical Genetics, Ankara, Turkey; 2. Başakşehir Çam and Sakura City Hospital, Genetics Diseases Center, İstanbul, Turkey; 3. Ankara University, School of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; 4. Ankara University, School of Medicine, Department of Dermatology, Ankara, Turkey; 5. İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
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