3.2(top 5%)
Impact Factor
3.7(top 5%)
extended IF
31(top 12%)
H-Index
157
authors
515
papers
7.3K
citations
1.3K
citing journals
9.5K
citing authors

Most Cited Articles of Current Protocols in Human Genetics

TitleYearCitations
Predicting functional effect of human missense mutations using PolyPhen-220131.6K
SNP genotyping using the Sequenom MassARRAY iPLEX platform2009596
The Catalogue of Somatic Mutations in Cancer (COSMIC)2008560
Quality control procedures for genome-wide association studies2011199
Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays2009137
Amplification-refractory mutation system (ARMS) analysis of point mutations2001108
Production and titration of lentiviral vectors200793
COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer201690
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data201485
Chemically Defined Culture and Cardiomyocyte Differentiation of Human Pluripotent Stem Cells201583
Getting started with microbiome analysis: sample acquisition to bioinformatics201479
Discovery of rare homozygous mutations from studies of consanguineous pedigrees201277
Improved protocols for the illumina genome analyzer sequencing system200977
Real-time quantitative PCR analysis of mitochondrial DNA content201174
Using ClinVar as a Resource to Support Variant Interpretation201670
Population Stratification in Genetic Association Studies201765
Mouse Genome Editing Using the CRISPR/Cas System201465
Alternative Splicing Signatures in RNA-seq Data: Percent Spliced in (PSI)201565
Interpreting de novo Variation in Human Disease Using denovolyzeR201556
Genetic tests: clinical validity and clinical utility201454
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias201554
RNA-seq Data: Challenges in and Recommendations for Experimental Design and Analysis201451
Improved Protocols for Illumina Sequencing201449
Digital Droplet PCR: CNV Analysis and Other Applications201445
Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using blue native gel electrophoresis200942