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

TitleYearCitations
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy2014110
Living with a rare disorder: a systematic review of the qualitative literature201795
MT-CYB mutations in hypertrophic cardiomyopathy201378
A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk201378
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome201569
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center201369
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders201467
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients201660
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds201560
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer201558
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing201457
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis201356
Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusion201556
Genetics and genomic medicine in Saudi Arabia201451
From genetic counseling to "genomic counseling"201350
Pitfalls in genetic testing: the story of missed SCN1A mutations201650
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing201548
Experience of targeted Usher exome sequencing as a clinical test201448
Disease variants in genomes of 44 centenarians201447
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing201547
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study201846
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness201846
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy201646
A comprehensive global genotype-phenotype database for rare diseases201745
A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction201645