Molecular Genetics & Genomic Medicine

Papers
(The H4-Index of Molecular Genetics & Genomic Medicine is 19. 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 2020-04-01 to 2024-04-01.)
ArticleCitations
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review45
Current status of beta‐thalassemia and its treatment strategies42
The study of METTL14, ALKBH5, and YTHDF2 in peripheral blood mononuclear cells from systemic lupus erythematosus39
Genetic variability of human angiotensin‐converting enzyme 2 (hACE2) among various ethnic populations33
Genetic counseling during COVID‐19 pandemic: Tuscany experience30
Single‐cell RNA sequencing analysis of human kidney reveals the presence of ACE2 receptor: A potential pathway of COVID‐19 infection25
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease24
Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human23
Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing23
A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)23
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus22
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype22
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome22
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology21
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS21
Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis20
Retracted: LncRNA SNHG4 promotes osteosarcoma proliferation and migration by sponging miR‐377‐3p20
Clinicopathological and immunological characterization of RNA m6A methylation regulators in ovarian cancer20
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment19
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 children19
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