Current Protocols in Human Genetics

3.5(top 10%)

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523(top 50%)

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9.0K(top 20%)

citations

36(top 20%)

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3.6(top 10%)

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656

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10.2K

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86(top 10%)

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Top Articles

#	Title	Journal	Year	Citations
1	Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2	Current Protocols in Human Genetics	2013	2,389
2	SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform	Current Protocols in Human Genetics	2009	702
3	The Catalogue of Somatic Mutations in Cancer (COSMIC)	Current Protocols in Human Genetics	2008	677
4	Quality Control Procedures for Genome‐Wide Association Studies	Current Protocols in Human Genetics	2011	259
5	Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Polarography and Spectrophotometric Enzyme Assays	Current Protocols in Human Genetics	2009	178
6	Amplification‐Refractory Mutation System ( ARMS ) Analysis of Point Mutations	Current Protocols in Human Genetics	1995	147
7	COSMIC: High‐Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer	Current Protocols in Human Genetics	2016	135
8	Production and Titration of Lentiviral Vectors	Current Protocols in Human Genetics	2007	128
9	Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data	Current Protocols in Human Genetics	2014	118
10	Chemically Defined Culture and Cardiomyocyte Differentiation of Human Pluripotent Stem Cells	Current Protocols in Human Genetics	2015	112
11	Getting Started with Microbiome Analysis: Sample Acquisition to Bioinformatics	Current Protocols in Human Genetics	2014	111
12	Improved Protocols for the Illumina Genome Analyzer Sequencing System	Current Protocols in Human Genetics	2009	108
13	Population Stratification in Genetic Association Studies	Current Protocols in Human Genetics	2017	108
14	Alternative Splicing Signatures in RNA‐seq Data: Percent Spliced in (PSI)	Current Protocols in Human Genetics	2015	104
15	Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content	Current Protocols in Human Genetics	2011	90
16	Mouse Genome Editing Using the CRISPR/Cas System	Current Protocols in Human Genetics	2014	90
17	Using ClinVar as a Resource to Support Variant Interpretation	Current Protocols in Human Genetics	2016	89
18	Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines	Current Protocols in Human Genetics	2019	88
19	Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees	Current Protocols in Human Genetics	2012	87
20	Interpreting de novo Variation in Human Disease Using denovolyzeR	Current Protocols in Human Genetics	2015	84
21	Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias	Current Protocols in Human Genetics	2015	83
22	RNA‐seq Data: Challenges in and Recommendations for Experimental Design and Analysis	Current Protocols in Human Genetics	2014	80
23	Overview of Admixture Mapping	Current Protocols in Human Genetics	2013	76
24	Using Electronic Health Records To Generate Phenotypes For Research	Current Protocols in Human Genetics	2019	74
25	Genetic Risk Scores	Current Protocols in Human Genetics	2019	69
26	Genetic Tests: Clinical Validity and Clinical Utility	Current Protocols in Human Genetics	2014	68
27	Diagnosis of Fanconi Anemia by Diepoxybutane Analysis	Current Protocols in Human Genetics	2003	64
28	Digital Droplet PCR: CNV Analysis and Other Applications	Current Protocols in Human Genetics	2014	59
29	DNA Mutation Detection Using Denaturing High‐Performance Liquid Chromatography (DHPLC)	Current Protocols in Human Genetics	2006	58
30	Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Blue Native Gel Electrophoresis	Current Protocols in Human Genetics	2009	49
31	Gene Delivery to Muscle	Current Protocols in Human Genetics	2001	48
32	Diagnosis of Fanconi Anemia by Diepoxybutane Analysis	Current Protocols in Human Genetics	2015	48
33	Matchmaker Exchange	Current Protocols in Human Genetics	2017	47
34	CRISPR/Cas9‐Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells	Current Protocols in Human Genetics	2018	45
35	Conducting a Reproducible Mendelian Randomization Analysis Using the R Analytic Statistical Environment	Current Protocols in Human Genetics	2019	45
36	Clinical Interpretation of Sequence Variants	Current Protocols in Human Genetics	2020	45
37	The AD Knowledge Portal: A Repository for Multi‐Omic Data on Alzheimer's Disease and Aging	Current Protocols in Human Genetics	2020	43
38	Genotyping Using the TaqMan Assay	Current Protocols in Human Genetics	2008	42
39	Genetic Risk Scores	Current Protocols in Human Genetics	2016	42
40	Production of Recombinant Adeno‐Associated Viral Vectors	Current Protocols in Human Genetics	2007	41
41	Targeted Exon Sequencing by In‐Solution Hybrid Selection	Current Protocols in Human Genetics	2010	40
42	Analysis of Gene‐Gene Interactions	Current Protocols in Human Genetics	2011	39
43	The UCSC Genome Browser	Current Protocols in Human Genetics	2011	38
44	Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer	Current Protocols in Human Genetics	2016	37
45	Yeast as a Model for Human Disease	Current Protocols in Human Genetics	2006	36
46	Quantitative Analysis of Copy Number Variants Based on Real‐Time LightCycler PCR	Current Protocols in Human Genetics	2014	36
47	Quantification of Creatine and Guanidinoacetate Using GC‐MS and LC‐MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes	Current Protocols in Human Genetics	2007	35
48	Acylcarnitine Analysis by Tandem Mass Spectrometry	Current Protocols in Human Genetics	2010	35
49	PLINK: Key Functions for Data Analysis	Current Protocols in Human Genetics	2018	35
50	MLPA and MAPH: Sensitive Detection of Deletions and Duplications	Current Protocols in Human Genetics	2006	34

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