Npj Genomic Medicine
Overview
Npj Genomic Medicine is a scientific journal, published since 2016 in English. The journal's country of origin is United Kingdom and its primary focus area is genetics.
Details
Details
Abbr.
NPJ Genom Med
Start
2016
End
Continuing
e-ISSN
2056-7944
Country
United Kingdom
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 8879
39
SJR / Ranks: 1110
2105
CiteScore / Ranks: 2824
7.10
JIF / Ranks: 1433
5.3
Recent Articles
1.
Poleg T, Hadar N, Heimer G, Dolgin V, Aminov I, Safran A, et al.
NPJ Genom Med
. 2025 Mar;
10(1):23.
PMID: 40082422
Rett syndrome (RTT) is a severe neurodevelopmental disorder, with MECP2 mutations accounting for 90-95% of classic and 50-70% of atypical cases. However, many clinically diagnosed RTT patients remain without molecular...
2.
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome
Chen H, Kim N, Nishizaki D, Nesline M, Conroy J, DePietro P, et al.
NPJ Genom Med
. 2025 Mar;
10(1):21.
PMID: 40069238
Programmed cell death protein 1 (PD-1) is a critical immune checkpoint receptor and a target for cancer immune checkpoint inhibitors (ICI). We investigated PD-1 transcript expression across cancer types and...
3.
Sun Q, Xu P, Mao A, Huang S, Li J, Chen L, et al.
NPJ Genom Med
. 2025 Mar;
10(1):22.
PMID: 40069205
Genetic diagnosis of ADPKD has been challenging due to the variant heterogeneity, presence of duplicated segments, and high GC content of exon 1 in PKD1. In our reproductive center, 40...
4.
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, et al.
NPJ Genom Med
. 2025 Mar;
10(1):19.
PMID: 40055385
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from...
5.
Yang G, Gonzalez P, Monero M, Carrasquillo K, Renta J, Hernandez-Suarez D, et al.
NPJ Genom Med
. 2025 Mar;
10(1):20.
PMID: 40055373
High on-treatment platelet reactivity (HTPR) with clopidogrel predicts ischemic events in adults with coronary artery disease, and while HTPR varies by ethnicity, no genome-wide association study (GWAS) of clopidogrel response...
6.
Costa C, Madanelo L, Wang J, da Silva Campos G, De Sanctis Girardi A, Scliar M, et al.
NPJ Genom Med
. 2025 Mar;
10(1):18.
PMID: 40050609
Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000-6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism...
7.
Kong S, Lee I, Collen L, Field M, Manrai A, Snapper S, et al.
NPJ Genom Med
. 2025 Feb;
10(1):17.
PMID: 40021654
Genetic testing is essential for diagnosing and managing clinical conditions, particularly rare Mendelian diseases. Although efforts to identify rare phenotype-associated variants have focused on protein-truncating variants, interpreting missense variants remains...
8.
Howell K, White S, McTague A, DGama A, Costain G, Poduri A, et al.
NPJ Genom Med
. 2025 Feb;
10(1):13.
PMID: 40016282
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of...
9.
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
Papadopoulou A, Litkowski E, Graff M, Wang Z, Smit R, Chittoor G, et al.
NPJ Genom Med
. 2025 Feb;
10(1):14.
PMID: 40016231
We performed ancestry and sex specific Phenome Wide Association Studies (PheWAS) to explore disease related outcomes associated with genetically predicted height. This is the largest PheWAS on genetically predicted height...
10.
Jiang L, Mai Z, Peng J, Du T, Wang W, Chen X, et al.
NPJ Genom Med
. 2025 Feb;
10(1):15.
PMID: 39984519
This study utilized single-tube long fragment read whole genome sequencing (stLFR WGS) to identify cryptic chromosomally balanced translocations in preimplantation genetic testing (PGT), aiming to improve outcomes for couples experiencing...