Molecular Genetics & Genomic Medicine

Papers
(The H4-Index of Molecular Genetics & Genomic Medicine is 15. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
Current status of beta‐thalassemia and its treatment strategies60
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease29
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype27
Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing26
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children25
Autosomal dominant variants inFOXJ1causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus25
Clinicopathological and immunological characterization of RNA m6A methylation regulators in ovarian cancer24
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome23
Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis22
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations19
Retracted: MiR‐485‐3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viability and neuroinflammation by targeting AKT318
Loss of CDKN2A at chromosome 9 has a poor clinical prognosis and promotes lung cancer progression16
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease15
Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids15
Panel‐based genetic testing for inherited retinal disease screening 176 genes15
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