Genetics in Medicine : Official Journal of the American College of Medical Genetics
Overview
'Genetics in Medicine' is the official journal of the American College of Medical Genetics. It is a leading publication in the field of medical genetics, providing a platform for the dissemination of cutting-edge research and clinical advancements. The journal covers a wide range of topics, including genetic testing, genetic counseling, genomic medicine, and the application of genetics in various medical specialties. With its rigorous peer-review process, 'Genetics in Medicine' serves as a valuable resource for healthcare professionals, researchers, and geneticists, facilitating the translatio
Details
Details
Abbr.
Genet Med
Publisher
Elsevier
Start
1998
End
Continuing
Frequency
Bimonthly
p-ISSN
1098-3600
e-ISSN
1530-0366
Country
United States
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 1255
159
SJR / Ranks: 732
2697
CiteScore / Ranks: 590
15.40
JIF / Ranks: 578
8.8
Recent Articles
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Bergquist T, Stenton S, Nadeau E, Byrne A, Greenblatt M, Harrison S, et al.
Genet Med
. 2025 Mar;
:101402.
PMID: 40084623
Purpose: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to...
3.
Gruzin M, Hobbs M, Ellsworth R, Poll S, Aguilar S, Knezovich J, et al.
Genet Med
. 2025 Mar;
:101387.
PMID: 40084622
Background: Professional organizations recommend pan-ancestry carrier screening for autosomal recessive (AR) and X-linked (XL) conditions. Advances in DNA sequencing allow for analysis of hundreds of genes, but the optimal number...
4.
Ehrenberg M, Avraham M, Asodu S, Moye A, Sangermano R, Rizel L, et al.
Genet Med
. 2025 Mar;
:101401.
PMID: 40079362
Purpose: To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene. Methods: Participants...
5.
Kobayashi E, Tobin L, Arenchild M, Benson W, Coufal N, Juarez E, et al.
Genet Med
. 2025 Mar;
:101403.
PMID: 40062436
Purpose: To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings. Methods: We examined the electronic health records (EHR) of 67 critically ill pediatric...
6.
Bennett G, Karbassi I, Chen W, Harrison S, Lebo M, Meng L, et al.
Genet Med
. 2025 Mar;
:101400.
PMID: 40035215
Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty, some...
7.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
Genet Med
. 2025 Mar;
:101399.
PMID: 40023774
Purpose: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate...
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Pandey R, Brennan N, Trachana K, Katsandres S, Bodamer O, Belmont J, et al.
Genet Med
. 2025 Mar;
:101398.
PMID: 40022598
Purpose: To systematically evaluate the diagnostic yield and clinical utility of genome and exome sequencing (GS and ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases....
9.
Doll E, Lerch S, Schmalenberger K, Alex K, Kolker S, Brennenstuhl H, et al.
Genet Med
. 2025 Feb;
:101390.
PMID: 39987491
Purpose: This systematic review aims to identify factors that influence parents' decisions regarding pediatric diagnostic and predictive genetic testing (DT/PT). Factors are integrated into a conceptual model of decision-making. Implications...
10.
Callahan K, Mueller R, Joffe S, Skraban C, Spinner N, Crew K, et al.
Genet Med
. 2025 Feb;
:101393.
PMID: 39987490
Background And Objectives: While several studies have evaluated neonatal intensive care unit (NICU) parents' perspective on the utility of genetic testing in a research context and concluded positive appraisal, some...