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Molecular Genetics & Genomic Medicine
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Top Articles
Molecular Genetics & Genomic Medicine
Biology
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Genetics
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Molecular Biology
2.3
(top 7%)
Impact Factor
2.5
(top 7%)
extended IF
71
(top 6%)
H-Index
3.4K
authors
1.8K
papers
12.3K
citations
2K
citing journals
13K
citing authors
Most Cited Articles of Molecular Genetics & Genomic Medicine
Title
Year
Citations
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy
2014
110
Living with a rare disorder: a systematic review of the qualitative literature
2017
95
MT-CYB mutations in hypertrophic cardiomyopathy
2013
78
A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk
2013
78
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
2015
69
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
2013
69
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
2014
67
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
2016
60
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
2015
60
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer
2015
58
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing
2014
57
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
2013
56
Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusion
2015
56
Genetics and genomic medicine in Saudi Arabia
2014
51
From genetic counseling to "genomic counseling"
2013
50
Pitfalls in genetic testing: the story of missed SCN1A mutations
2016
50
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing
2015
48
Experience of targeted Usher exome sequencing as a clinical test
2014
48
Disease variants in genomes of 44 centenarians
2014
47
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
2015
47
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
2018
46
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
2018
46
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy
2016
46
A comprehensive global genotype-phenotype database for rare diseases
2017
45
A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
2016
45
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How are inpact factors calculated?
The impact factor (IF) is calculated by counting citations from peer-reviewed journals only.
extended IF
also counts citations from books and conference papers. However, no patent, abstract, working papers, online documents, etc., are covered.
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