European Journal of Medical Genetics
Overview
The European Journal of Medical Genetics is a reputable scientific journal that publishes original research articles, reviews, and case reports in the field of medical genetics. It covers a wide range of topics including genetic disorders, genetic testing, molecular genetics, and genetic counseling. The journal aims to advance knowledge and understanding of genetic diseases and their impact on human health, providing a valuable resource for researchers, clinicians, and genetic counselors in Europe and beyond.
Details
Details
Abbr.
Eur J Med Genet
Publisher
Elsevier
Start
2005
End
Continuing
Frequency
Quarterly
p-ISSN
1769-7212
e-ISSN
1878-0849
Country
Netherlands
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 5723
64
SJR / Ranks: 6712
666
CiteScore / Ranks: 6529
4.10
JIF / Ranks: 5372
1.9
Recent Articles
1.
Ia R, Kabbashi S, Chetty M
Eur J Med Genet
. 2025 Mar;
:105008.
PMID: 40089179
Introduction: Enamel Renal Syndrome (ERS) (OMIM 204690) is a rare genetic condition characterised by a distinct oral profile and sometimes nephrocalcinosis. This autosomal recessive condition, caused by pathogenic variants in...
2.
Shin B, Kim J, Kim M, Jang D
Eur J Med Genet
. 2025 Mar;
:105010.
PMID: 40089178
The pathogenic variant of WBP11 has been known as one of the various genetic causes of VACTERL syndrome. VACTERL syndrome is usually diagnosed with at least three clinical features of...
3.
Huyghebaert J, Christiaenssen B, De Rademaeker M, Van den Ende J, Vandeweyer G, Kooy R, et al.
Eur J Med Genet
. 2025 Mar;
75:105009.
PMID: 40057302
In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a...
4.
Hou L, Zhou P, Du Y, Wang X, Zhao C
Eur J Med Genet
. 2025 Mar;
75:105006.
PMID: 40043752
Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous type-I interferonopathy presenting in infancy with intracranial calcifications, white matter lesions, and brain atrophy. AGS7, caused by gain-of-function (GOF) mutations in the IFIH1...
5.
Ribeiro I, Tavares J, Sousa L, Mendes A
Eur J Med Genet
. 2025 Mar;
74:105007.
PMID: 40043751
Genetic and genomic testing often have implications not only for the individual tested but also for their genetic relatives. This study aims to characterize public attitudes toward the familial disclosure...
6.
Cragg A, Hunt D, Cooper H, Schirwani S
Eur J Med Genet
. 2025 Feb;
75:105004.
PMID: 40015599
Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis. Until recently, the molecular basis of the condition was largely unknown. A recent study...
7.
Sue-Rica S, Schneider S, Jacobus S, Spies J, Janus P, Pretorius P, et al.
Eur J Med Genet
. 2025 Feb;
74:105005.
PMID: 39999946
Two major psychiatric disorders, schizophrenia and bipolar I disorder, are regarded as distinct disorder entities; however, they share intricate connections through characteristic overlap and underlying genetic aetiology, challenging the traditional...
8.
Pilz R, Skowronek D, Bonde L, Kaluzewski T, Schamuhn O, Busch R, et al.
Eur J Med Genet
. 2025 Feb;
74:105003.
PMID: 39993709
Introduction: Familial hypercholesterolemia (FH) affects around 1 in 250 people. Most FH cases are caused by pathogenic LDLR variants, with copy number variations (CNVs) accounting for about 10 %. However,...
9.
Garotti R, Marino M, Riccio M, Cappuccio G, Maffettone V, Bravaccio C
Eur J Med Genet
. 2025 Feb;
74:105001.
PMID: 39978592
Autism Spectrum Disorder (ASD) is to date considered a disorder with a complex aetiology that recognizes both genetic and environmental risk factors. The role of the genetic contribution is progressively...
10.
Hou W, Fu X, Xie X, Zhang C, Zhang M, Xiao R, et al.
Eur J Med Genet
. 2025 Feb;
74:105002.
PMID: 39978591
Carrier screening for monogenic diseases is becoming increasingly important in preventive medicine, yet selecting appropriate target genes remains a complex task, especially in countries with significant ethnic and geographic diversity...