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Genetics in Medicine

IF6.2
Papers5068
Citations20378
Journal Papers 5507
Publication Date
Retrospective Study of Foramen Magnum Development in Patients with Achondroplasia Starting Vosoritide Before Age Three
delete2026-07-23
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PREAI
deleteMarie Nakagawa; Natsuho Adachi; Motoyuki Umekawa; Hirotaka Hasegawa; Keita Okada; Hiroyuki Tanaka
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Familial Risk Stratification Across Cancer Syndromes Using Fam3PRO
delete2026-07-22
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PREAI
deleteJane W. Liang; Gregory E. Idos; Christine Hong; Kristen M. Shannon; Lauren M. Bear; Joseph D. Bonner; Sidney Lindsey; Jennifer Morales Pichardo; Zoe Guan; Anne Marie McCarthy; Stephen B. Gruber; Danielle Braun; Giovanni Parmigiani
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Indigenous perspectives on biobanking, specimen storage, and data governance: A scoping review
delete2026-07-21
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deleteCaleigh Curley; Adam Fernandez; Breanna Lameman; Alison A. Watson; Ibrahim Garba; Vanessa Y. Hiratsuka; Riley Taitingfong; Joseph M. Yracheta; Maui Hudson; Nanibaa’ A. Garrison; Cheryl Ellenwood; Lydia Jennings; Stephanie Russo Carroll
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AAVC: An automated framework for high-accuracy ACMG-based variant classification
delete2026-07-15
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PREAI
deleteR. Arda İnan; Barış Kayaalp; Fatimah Safieh; M. Ece Kars; David Stein; David N. Cooper; Peter D. Stenson; Özlen Konu; Jean-Laurent Casanova; Yuval Itan; A. Nazlı Başak; Tayfun Özçelik
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Offering Phone-based Patient Navigation to Improve Receipt of Genetic Testing for Hereditary Colorectal Cancer: A Pilot Trial in an Academic-Affiliated Health System
delete2026-07-14
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PREAI
deleteSarah Knerr; Jacky Dahlquist; Marlana Kohn; Sarah Stayman; Eric Q. Konnick; Allison Cole; Ying Zhang; Cynthia Ko
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“It didn’t feel like anything unusual because we had already been through so much”: Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network
delete2026-07-13
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deleteKevin T. Mintz; Elisa N. Altamirano; Meghan C. Halley; Krysta S. Barton; Mildred K. Cho; Jonathan A. Bernstein; Jennefer N. Carter
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Implementing a Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease in a Diverse Cohort
delete2026-07-11
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PREAI
deleteMarwan Hamed; Mohammadreza Naderian; Hana Bangash; Valentina Hernandez; Gabriel Q. Shaibi; Meliksah Arslan; Seyedmohammad Saadatagah; Alborz Sherafati; Alexandra Miller; Arailym Kamzabek; Oluwateniayo Ogunsan; Blake Goff; Brittney Davis; Cynthia Prows; James J. Cimino; Josh Cortopassi; Leah Kottyan; Mark Beasley; Nita Limdi; Qiping Feng
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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling
delete2026-07-09
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PREAI
deleteNathalie M. Aceves-Ewing; Denise G. Lanza; Paul C. Marcogliese; Di Lu; Chih-Wei Hsu; Hirokazu Hashimoto; Matthew Gonzalez; Audrey E. Christiansen; Tara L. Rasmussen; Alex J. Ho; Angelina Gaspero; Cher Sha; Mary E. Dickinson; Bo Yuan; Brian J. Shayota; Stephanie Pachter; Xiaolin Hu; Debra Lynn Day-Salvatore; Laura Mackay; Oguz Kanca
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Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce
delete2026-07-09
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PREAI
deleteAmanda M. Berkstresser; Suzanna E. Ledgister Hanchard; Daniela Iacaboni; Kevin McMilian; Dat Duong; Benjamin D. Solomon; Rebekah L. Waikel
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Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.
delete2026-07-08
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deleteDavid E. Godler; Ling Ling; Dinusha Gamage; Minh Bui; Michael J. Field; David J. Amor
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Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics
delete2026-07-08
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deleteDesiree M.S. Tse; Wenshu Tang; Martin M.C. Chui; Cario W.S. Lo; Joe Lai; Annie T.W. Chu; Brian H.Y. Chung
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Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
delete2026-07-07
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deleteSally Nijim; Mimi Kim; Melissa Denish; Michael V. Gonzalez; Joseph Zinski; Claudine Rieubland; Dominique Braun; Elsebet Ostergaard; Amelle Shillington; Laurence Faivre; Julien Maraval; Aurore Garde; Christophe Philippe; Fréderic Tran-Mau-Them; Amy Crunk
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Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53)
delete2026-07-07
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deleteAlexander Sun Zhang; Meis Omran; Joakim Wille; Torben Ek; Magnus Sabel; Niklas Pal; Trausti Óskarsson; Per Kogner; Gustaf Ljungman; Emma Tham; Svetlana Bajalica-Lagercrantz
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Response to Himanshu Goel
delete2026-07-07
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PREAI
deleteYujiro Higuchi
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Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease
delete2026-07-06
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PREAI
deleteRaquel van Gool; Nehal Shah; Amanda Cao; Lise Vrolix; Buket Sonbas Cobb; Benjamin Goodlett; Georgina Johnson; Hanne van der Heijden; Merve Koç Yekedüz; Carlos Camelo; Julie Shulman; Adam P. Vogel; M. Valerie Stein; Hawa Sakho; David Kronn; Nick Todd; Olaf Bodamer; Seward Rutkove; Walla Al-Hertani; Jaymin Upadhyay
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Beyond Mistrust: Diverse Biobanking Preferences Among Parents and Adolescents with Sickle Cell Disease
delete2026-06-19
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PREAI
deleteMeaghann S. Weaver; Ambria Williams; Belinda Mandrell; Jane S. Hankins; Jami S. Gattuso; Abagail Cohen; Yunus Olufadi; Guolian Kang; Liza-Marie Johnson
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RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
delete2026-06-19
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PREAI
deleteDena R. Matalon; Angela L. Duker; Taylor M. Arriaga; Kathryn Russell; Hector Rodrigo Mendez; Devon E. Bonner; Margaret E. Harley; Moriel Singer-Berk; Monica H. Wojcik; Lynn Pais; Stephanie DiTroia; Melanie O’Leary; Thomas Cassini; Kimberly Ezell; Anne D. Niehaus; Julie Kaplan; David S. Wargowski; Cory J. Smid; Emily D. Longenecker; Ana Maria Rodriguez Barreto
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KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders
delete2026-06-19
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PREAI
deleteZain Awamleh; Anthony Chen; Sanaa Choufani; Dmitrijs Rots; Jung Min Ko; Christine M. Armour; Małgorzata J.M. Nowaczyk; Anna C.E. Hurst; William T. Gibson; Doriana Misceo; Eirik Frengen; Petter Strømme; Luca Soliani; Vanda McNiven; Ebba Alkhunaizi; Federica Invernizzi; Sofia Fernandes; Sergio Sousa; Inmaculada Amoros; Stephen W. Scherer
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