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Genetics in Medicine cover

Genetics in Medicine

IF6.2
Papers5550
Citations23854
Journal Papers 5550
Publication Date
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The Economic Value of Hereditary Cancer Testing: A Systematic Review
deleteGenetics in Medicine
IF6.2
delete2026-10-23
delete0
deleteOAAI
deleteCarol Kirshner; Gebra Cuyun Carter; Brandie Heald; Deborah Hartzfeld; Heather Johnson; Jade Xiao; Joyce Kong; Gina Thompson; Feyza Sancar; Mary Litton Peters
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Not Forgotten: Patient Experiences with Genetic Variant Reclassifications
deleteGenetics in Medicine
IF6.2
delete2026-10-22
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PREAI
deletePankhuri Gupta; Min Seon Park; Eric Y. Kao; Abbye E. McEwen; Runjun D. Kumar; Martha Horike-Pyne; Douglas M. Fowler; Lea M. Starita; Sarah Knerr; Andrew B. Stergachis
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Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN
deleteGenetics in Medicine
IF6.2
delete2026-10-22
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PREAI
deleteClaudia Weidling; Hendrik Harms; Aisha Ameen; Aleksandra Panfilova; Tomma Gloystein; Amelie Stein; Han C. Chua; Stephan A. Pless
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Exome-wide analysis of rare deleterious variants in 3,569 sarcoma cases and 21,788 controls from multiple international data sources reveals no novel susceptibility genes
deleteGenetics in Medicine
IF6.2
delete2026-10-21
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deleteAlice Garrett; Zeid Kuzbari; Isaac Wade; Chey Loveday; Charlie Rowlands; Adrian Larkeryd; Sophie Allen; Swetansu Pattnaik; Piyush Mundra; Adrienne Flannagan; Ian Tomlinson; Mandy Ballinger; Philip J. Lupo; Douglas R. Stewart; David Thomas; Clare Turnbull
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Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations
deleteGenetics in Medicine
IF6.2
delete2026-10-13
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PREAI
deleteBianca P. Favilla; Ahmed Al-Rikabi; Paula Asprino; Eduardo Perrone; Danilo Moretti-Ferreira; Vera A. Meloni; Pedro A.F. Galante; Danielle C.F. Bruno; Iscia Lopes-Cendes; Thomas Liehr; Fernanda Bellucco; Maria Isabel Melaragno
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“TRACEBACK has probably saved my life”: experiences of being notified about clinically significant cancer genetic information by the Australian TRACEBACK program
deleteGenetics in Medicine
IF6.2
delete2026-10-12
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PREAI
deleteAnishka Abeysinghe; Rachel Delahunty; Mary-Anne Young; Linh Nguyen; Paul A. James; David Bowtell; Kathryn Alsop; Laura Forrest
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Individuals heterozygous for LTBP2 loss-of-function variants have an increased risk of adult-onset primary open-angle glaucoma
deleteGenetics in Medicine
IF6.2
delete2026-10-08
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PREAI
deleteMauricio Garcia; Yuyang Luo; Jyoti Lama; Terri L. Young; Elizabeth Rossin; Louis R. Pasquale; Pirro G. Hysi; Anthony P. Khawaja; David A. Mackey; Jamie E. Craig; Emmanuelle Souzeau; Inas F. Aboobakar; Ayellet V. Segrè; Janey L. Wiggs
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Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity
deleteGenetics in Medicine
IF6.2
delete2026-10-05
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PREAI
deleteDaria Gorodilova; Tatiana Markova; Vladimir Kenis; Evgenii Melchenko; Alexandra Filatova; Natalia Ogorodova; Gusein Rustamov; Elena Dadali; Tatiana Nagornova; Natalya Skoblova; Olga Khailova; Alexandra Akinshina; Artem Borovikov; Vyacheslav Tabakov; Eugene Tatarskiy; Andrey Marakhonov; Yurii Skoblov; Olga Shchagina; Sergey Kutsev; Mikhail Skoblov
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Mainstreaming general genetics referrals: measuring the impact on wait times in a general genetics practice
deleteGenetics in Medicine
IF6.2
delete2026-10-03
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deleteRachelle Dinchong; Stefani Evans; Melanie Guy; Helen Coo; Andrea Guerin
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CHARGE free cascade genetic testing: Effectiveness and implementation outcomes from a hybrid type I feasibility trial
deleteGenetics in Medicine
IF6.2
delete2026-10-01
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deleteSukh Makhnoon; Nandana D. Rao; Grace Getchell; Yanete Rodriguez; Elena Hong; Sofia Bereket; Tiwatope Ibidapo; Sara Pirzadeh-Miller; MinJae Lee; Nora B. Henrikson
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Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic
deleteGenetics in Medicine
IF6.2
delete2026-10-01
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deleteJennifer Berkman; Clare Primiero; Centaine Snoswell; Courtney K. Wallingford; Betsy Peach; Emily DeBortoli; Xiaohua Shen; Helmut Schaider; Kiarash Khosrotehrani; Tatiane Yanes; H. Peter Soyer; Aideen McInerney-Leo
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More Than Screening: What Does Equity in Reproductive Genetics Look Like?
deleteGenetics in Medicine
IF6.2
delete2026-09-29
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PREAI
deleteAsha N. Talati; Andrea Johnson; Neeta L. Vora
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A Pilot Study of the Hereditary Heart Disease Risk Algorithm and User Experience of the Family Health Risk Calculator
deleteGenetics in Medicine
IF6.2
delete2026-09-29
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deleteRegan Webber; Hibatallah Khafagy; Natali Zecchino; Alberta Nomo; Yue Yu; Patricia Parker; Shelly Hovick; Kevin Sweet; Elizabeth Jordan
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Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network
deleteGenetics in Medicine
IF6.2
delete2026-09-28
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deleteRebecca C. Spillmann; Nicole Walley; Kelly Schoch; Mohamad A. Mikati; Vaidehi Jobanputra; Patrick Shea
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The Economic Costs of Genetic Counseling: A Combined Expert Perspective and Systematic Review
deleteGenetics in Medicine
IF6.2
delete2026-09-28
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PREAI
deleteVarinder Jeet; Julie Cigrang; Amanda Willis; Henry Cutler; Mary-Anne Young
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Barriers and facilitators of implementing integrated genomic risk assessment – a qualitative case study in an academic-affiliated health system
deleteGenetics in Medicine
IF6.2
delete2026-09-25
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PREAI
deleteJingheng H. Chen; David L. Veenstra; David R. Crosslin; Gail P. Jarvik; Sarah A. Knerr
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Universal versus guideline-based germline multigene panel testing in solid tumors: Diagnostic yield, variant of uncertain significance burden, and clinical actionability - A systematic review with meta-analysis
deleteGenetics in Medicine
IF6.2
delete2026-09-24
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deleteImad Barjij; Sarah Naciri; Sihame Lkhoyaali; Saoussane Kharmoum; Hanane Inrhaouen; Ibrahim Elghissassi; Saber Boutayeb; Hind Mrabti; Hassan Errihani
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Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment
deleteGenetics in Medicine
IF6.2
delete2026-09-24
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deleteShaima Raji Abdul Rahiman Sirajuddeen; Marjorie J. Lindhurst; Megan Detels; Nathaniel Laughner; Jennifer Johnston; Lauren R. Brinster; Leslie G. Biesecker
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Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening
deleteGenetics in Medicine
IF6.2
delete2026-09-22
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PREAI
deleteCandice Shi; MaryAnn Campion; Carly M. Smith; Jenna Kornish
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Assessing Melanoma and Pancreatic Cancer Risks in Diverse CDKN2A Heterozygote Populations
deleteGenetics in Medicine
IF6.2
delete2026-09-22
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deleteColin C. Young; Magan Trottier; Carolyn Horton; Maggie Feng; Amal Yussuf; Jacqueline Mersch; Amber Gemmell; Andrew Giles; Linda M. Polfus; Marcy E. Richardson
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