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AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Paper Review Records
All Paper Review Records
10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
74
days
CURE ID : A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders
AuthorsTahsin Farid; Maura R. Z. Ruzhnikov; Mili Duggal; Keyla C. Tumas; Shira Strongin; Eric Sid; Sarah R. Fuchs; Leonard Sacks; Dominique C. Pichard; Catherine Pilgrim‐Grayson; Ewy A. Mathé; Heather A. Stone
Affiliations1. Division of Preclinical Innovation, National Center for Advancing Translational Sciences (NCATS) National Institutes of Health (NIH) Rockville Maryland USA; 2. Office of Medical Policy, Center for Drug Evaluation and Research (CDER) US Food and Drug Administration Silver Spring Maryland USA; 3. Division of Rare Diseases and Medical Genetics, Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, Office of New Drugs, Center for Drug Evaluation and Research US Food and Drug Administration Silver Spring Maryland USA; 4. Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS) National Institutes of Health Bethesda Maryland USA
237
days
Targeted Medical Therapies for Vascular Anomalies: A Clinical Review
AuthorsWhitney Eng
Affiliations1. Division of Pediatric Hematology/Oncology Seattle Children's Hospital, University of Washington Seattle Washington USA
2
days
Comments From the Guest Editors
AuthorsMelissa Crenshaw; Anne Skakkebæk
Affiliations1. John Hopkins All Children's Hospital St. Petersburg Florida USA; 2. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark; 3. Department of Clinical Medicine Aarhus University Aarhus Denmark
276
days
Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower‐Dose Estradiol Therapy for Healthy Bone Density and Quality
AuthorsYukihiro Hasegawa; Kento Ikegawa; Takeshi Munenaga; Tomoyo Itonaga; Marie Mitani‐Konno; Masanobu Kawai; Naoko Amano
Affiliations1. Division of Endocrinology and Metabolism Tokyo Metropolitan Children's Medical Center Tokyo Japan; 2. Department of Pediatrics Keio University School of Medicine Tokyo Japan; 3. Clinical Research Support Center Tokyo Metropolitan Children's Medical Center Tokyo Japan; 4. Department of Pediatrics Oita University Faculty of Medicine Oita Japan; 5. Department of Bone and Mineral Research, Research Institute Osaka Women's and Children's Hospital Osaka Japan; 6. Department of Gastroenterology, Nutrition, and Endocrinology Osaka Women's and Children's Hospital Osaka Japan
228
days
Targeted Therapies in Neurofibromatosis Type 1
AuthorsAimee A. Sato; Dawn Earl; Stephanie E. Wallace
Affiliations1. University of Washington Seattle Washington USA; 2. Division of Genetic Medicine University of Washington (SEW), Seattle Children's Hospital (DE) Seattle Washington USA
166
days
Treatment of PDGFRB ‐Related Penttinen Syndrome With Imatinib in a Young Child
AuthorsMolly McPheron; Katelyn Burns; Tara L. Wenger
Affiliations1. Division of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA; 2. Division of Medical Genetics Riley Children's Hospital Indianapolis Indiana USA; 3. Division of Genetic Medicine University of Washington School of Medicine Seattle Washington USA; 4. Division of Genetic Medicine Seattle Children's Hospital Seattle Washington USA
164
days
The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis
AuthorsFrancisco Álvarez‐Nava; Melissa L. Crenshaw; Ivonne Bedei; Marisol Soto; Andréa T. Maciel‐Guerra; Anne Skakkebæk
Affiliations1. Facultad de Ciencias Biológicas Universidad Central del Ecuador Quito Ecuador; 2. Instituto de Investigaciones Genéticas de la Universidad del Zulia Maracaibo Venezuela; 3. Division of Genetics Johns Hopkins All Children's Hospital St. Petersburg Florida USA; 4. Department of Prenatal Diagnosis and Fetal Therapy Justus‐Liebig University Gießen Germany; 5. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark; 6. Department of Medical Genetics and Genomic Medicine, School of Medical Sciences State University of Campinas São Paulo Brazil; 7. Department of Clinical Medicine Aarhus University Hospital Aarhus Denmark; 8. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark
144
days
Visualizing Turner Syndrome
AuthorsKirstine Stochholm; Astrid Bruun Rasmussen; Anne Skakkebæk
Affiliations1. Department of Endocrinology and Internal Medicine Aarhus University Hospital Aarhus Denmark; 2. Department of Clinical Medicine Aarhus University Aarhus Denmark; 3. Department of Pediatrics Aarhus University Hospital Aarhus Denmark; 4. Department of Pediatrics Aalborg University Hospital Aalborg Denmark; 5. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark; 6. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark
77
days
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets
AuthorsShelby E. Redfield; Stephanie A. Mauriac; Gwenaëlle S. Géléoc; A. Eliot Shearer
Affiliations1. Department of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA; 2. Children's Rare Disease Collaborative, Department of Information Technology Boston Children's Hospital Boston Massachusetts USA
100
days
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
AuthorsInger Lily Hjuler Dorf; Stina Lou; Anne Skakkebæk
Affiliations1. Department of Clinical Medicine Aarhus University Aarhus Denmark; 2. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark; 3. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark; 4. Department of Endocrinology Aarhus University Hospital Aarhus Denmark; 5. Center for Fetal Diagnostics, Aarhus University Hospital Aarhus Denmark; 6. DEFACTUM–Public Health Research, Central Denmark Region Aarhus Denmark
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days