Molecular Genetics & Genomic Medicine
Overview
Molecular Genetics & Genomic Medicine is a scientific journal, published since 2013 in English. The journal's country of origin is United States and its primary focus area is genetics.
Details
Details
Abbr.
Mol Genet Genomic Med
Start
2013
End
Continuing
Frequency
Bimonthly
e-ISSN
2324-9269
Country
United States
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 8422
42
SJR / Ranks: 7108
633
CiteScore / Ranks: 6010
4.40
JIF / Ranks: 5186
2.0
Recent Articles
1.
Wang Y, Zhou Y, Chai Y, Zang W, Wang H, Yin F, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70091.
PMID: 40084842
Background: Uniparental disomy (UPD) is a specific type of chromosomal variation in which both chromosomes of a homologous pair are inherited from the same parent. It is responsible for a...
2.
Taniguchi K, Hasegawa F, Okazaki Y, Hori A, Ogata-Kawata H, Aoto S, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70092.
PMID: 40078074
Background: Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES-based strategy...
3.
Lee M, Herrick N, Marazita M, Shaffer J, Weinberg S
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70090.
PMID: 40071514
Background: Fifth finger clinodactyly describes the conspicuous curvature of the fifth digit toward the other digits of the hand. Phenotypic expression can range from mild and almost imperceptible to severe,...
4.
Mirinezhad M, Mirzaei F, Salmaninejad A, Esfehani R, Seyedtaghia M, Farahmand S, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70084.
PMID: 40066647
Background: While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous. This study investigates the potential association between homozygous...
5.
Gong G, Huang C, Jin H, Zhang Z, Yang C, Yang G, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70075.
PMID: 40052770
Background: KCNQ4 is a common genetic cause of nonsyndromic autosomal dominant hearing loss. We have identified the family in China with a KCNQ4 (c.701A>G; p.His234Arg) missense variation. In this study,...
6.
Qi Y, Liu K, Wei Y, Liu X, Jiang L, Teng J, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70088.
PMID: 40052367
Background: Polydactyly is a prevalent limb deformity with an autosomal dominant inheritance pattern, manifesting in both syndromic and nonsyndromic forms. It exhibits significant etiological and clinical diversity. This study aims...
7.
Saeed T, Bibi N, Ahmad A, Khan S, Ansar M, Wasif N, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70085.
PMID: 40045933
Background: Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive disorder, characterized by postnatal onset of disproportionate short stature with short limbs, brachydactyly, cone-shaped epiphysis, narrow thorax, and relatively large head....
8.
Wang Y, Xu X, Ding Y, Yuan G
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70087.
PMID: 40040554
Background: Hereditary dentin defects are a group of autosomal dominant disorders characterized by developmental abnormalities in dentin formation and mineralization. They can be categorized into dentin dysplasia and dentinogenesis imperfecta....
9.
Zhao L, Qiao Z, Jia Y, Fu J, Li T, Jia K, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70083.
PMID: 40035441
Objective: To investigate the clinical and genetic characteristics of patients with ANK2(HGNC:493)-associated autism spectrum disorders (ASDs) and epilepsy (EP). Methods: We identified a novel ANK2 variant in a patient with...
10.
Lepage M, Uhrhammer N, Molnar I, Privat M, Ponelle-Chachuat F, Gay-Bellile M, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70086.
PMID: 40022545
Introduction: Multiple primary malignancies (MPMs) refer to two or more primary malignant tumors in the same patient. MPMs are frequent: 18.4% of incident cancers represent a second or a higher...