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Genetics in Medicine cover

Genetics in Medicine

IF6.2
Papers5092
Citations20378
Journal Papers 5530
Publication Date
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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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PREAI
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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Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases
deleteGenetics in Medicine
IF6.2
delete2026-09-21
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deleteSarah R. Poll; Flavia M. Facio; Kirsty McWalter; Patricia C. Lopes; Amanda Lindy; Bethany Friedman; Kirsten Kelly; Olivia Trimmier; Jane Juusola; Paul Kruszka; Wei Wang; Lisa Dyer; Lisong Shi; Britt Johnson; Ganka Douglas
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Shared Founder Effect of the LIPH Variant Underlies the High Prevalence of Autosomal Recessive Woolly Hair/Hypotrichosis in Korea and Japan
deleteGenetics in Medicine
IF6.2
delete2026-09-18
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PREAI
deleteHyun-Tae Shin; Ohsang Kwon; Jin Park; Young Lee; Hyunsun Park; Yong Hyun Jang; Bark-Lynn Lew; Jee Woong Choi; Byeong Cheol Park; Min Seong Kim; Moon-Bum Kim; Hyun-Ji Ryu; Mi Eun Choi; Hye Young An; Kyung Hee Jung; Ji Won Byun; Jeonghyun Shin; Gwang Seong Choi
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Germline ATM Testing in Hereditary Cancer Syndromes: Feedback from a Five-Year Center Cohort
deleteGenetics in Medicine
IF6.2
delete2026-09-11
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deleteIulian BAN; Lamisse MANSOUR-HENDILI; Ana Maria NAVARRO; Karen BAUDRY; Tatiana KOGUT-KUBIAK; Xavier MIALHE; Carole CORSINI; Pascal PUJOL; Jérôme SOLASSOL
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Ethical concerns regarding genetic testing for Y chromosome presence in athletes: A position statement of the American College of Medical Genetics and Genomics (ACMG)
deleteGenetics in Medicine
IF6.2
delete2026-09-10
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PREAI
deleteEric Vilain; Mahmoud Aarabi; George Khushf; Svetlana Yatsenko; Kimberly Zayhowski
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An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders
deleteGenetics in Medicine
IF6.2
delete2026-09-09
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deleteFrancisco Santos Gonzalez; Ellenore Martin; Madeleine Harris; Sarah Casauria; Fahaz Nazer; Smitha Kumble; Michelle G. de Silva; Tiong Yang Tan; Susan M. White; John Christodoulou; Ilias Goranitis
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Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis
deleteGenetics in Medicine
IF6.2
delete2026-09-08
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deleteKanako Koike Fukushima; Takahiro Itaya; Yuko Kamiakito; Seiko Ohno; Hirokazu Kotani; Shoji Tsuji; Masakazu Nishigaki
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Association of a Child’s Rare Disease Neurofibromatosis 1 with Parental Income and Employment Trajectories Following the Child’s Birth
deleteGenetics in Medicine
IF6.2
delete2026-09-08
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deleteKristian Gästgifvars; Edvard Johansson; Petri Böckerman; Sirkku Peltonen; Juha Peltonen; Roope A. Kallionpää
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Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling
deleteGenetics in Medicine
IF6.2
delete2026-09-08
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deleteDagmara Korona; Akiko Soneda Hashimoto; Yang Pei; Eduardo Calpena; Jackie Sloane-Stanley; Simone G. Riva; Ron Schwessinger; Francesca Forzano; Satyan Chintawar; Galbha Duggal; Steven A. Wall; Jim R. Hughes; Stephen R.F. Twigg; Andrew O.M. Wilkie
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Why atypical findings matter: Follow up testing finds diagnostic results related to cfDNA screen
deleteGenetics in Medicine
IF6.2
delete2026-09-07
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PREAI
deleteRebekah Whitham; Hannah S. Anderson; Danielle LaGrave; Lauren Wallace; M. Katharine Rudd
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P-KNN: joint calibration of multiple pathogenicity prediction tools streamlines variant classification
deleteGenetics in Medicine
IF6.2
delete2026-08-26
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deletePo-Yu Lin; Nadav Brandes
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Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States
deleteGenetics in Medicine
IF6.2
delete2026-08-26
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PREAI
deleteGregory F. Guzauskas; Sara M. Berger; Robert O’Connor; Serra Kim; Scott Topper; Elizabeth Chao; Carolyn Horton; Lily Hoang; David L. Veenstra; Wendy K. Chung
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The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen
deleteGenetics in Medicine
IF6.2
delete2026-08-25
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deleteÁlvaro Martín-Rodríguez; Adriana Gomes; Kristen Barbour; Kristen Wigby; Marilyn C. Jones; Lynne M. Bird; Miguel del Campo
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Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: a national qualitative study
deleteGenetics in Medicine
IF6.2
delete2026-08-24
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PREAI
deleteMarla L. Clayman; Lilly Cheam; Christopher Gillespie; Ashley A. Antwi; Ekaterina Anderson; Morgan E. Danowski; Charles A. Brunette; Vincent Song; Claire E. Grant; Maren T. Scheuner; Renda Soylemez Wiener; Jason L. Vassy
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Development of a simple clinical score to prioritize detection of severe alpha-1 antitrypsin deficiency with PiZZ genotype
deleteGenetics in Medicine
IF6.2
delete2026-08-20
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PREAI
deleteYanzhen Cheng; Guillaume Butler-Laporte; Tomoko Nakanishi; Tianyuan Lu
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Short-term outcomes of a randomized, mixed-methods trial to improve hereditary cancer test results disclosure and follow-up communication with family
deleteGenetics in Medicine
IF6.2
delete2026-08-20
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deleteDeborah L. Cragun; Marleah Dean; Paige Phillips Hunt; Jason Beckstead; Anne Weidner; Tuya Pal
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