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Human mutation(10,014)
ISSN: 1059-7794
1    
HGVS Recommendations for the Description of Sequence Variants: 2016 Update 期刊论文

Human Mutation     ISSN:1059-7794  Volume:37  Issue:6  Page:564-569  

Dunnen Johan T;   Dalgleish Raymond;   Maglott Donna R;   Hart Reece K;   Greenblatt Marc S;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:209

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2    
dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations 期刊论文

Human Mutation     ISSN:1059-7794  Volume:34  Issue:9  Page:E2393-E2402  

Liu Xiaoming;   Jian Xueqiu;   Boerwinkle Eric;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:343

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3    
dbNSFP v3.0: A One‐Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice‐Site SNVs 期刊论文

Human Mutation     ISSN:1059-7794  Volume:37  Issue:3  Page:235-241  

Liu Xiaoming;   Wu Chunlei;   Li Chang;   Boerwinkle Eric;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:174

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4    
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models 期刊论文

Human Mutation     ISSN:1059-7794  Volume:34  Issue:1  Page:57-65  

Shihab Hashem A;   Gough Julian;   Cooper David N;   Stenson Peter D;   Barker Gary L. A;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:358

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5    
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data 期刊论文

Human Mutation     ISSN:1059-7794  Volume:37  Issue:9  Page:865-876  

Bouaoun Liacine;   Sonkin Dmitriy;   Ardin Maude;   Hollstein Monica;   Byrnes Graham;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:130

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6    
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene 期刊论文

Human Mutation     ISSN:1059-7794  Volume:36  Issue:10  Page:928-930  

Sobreira Nara;   Schiettecatte François;   Valle David;   Hamosh Ada;  

来源数据库:[MEDLINE, Neurosciences Abstracts]        

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7    
Oncotator: Cancer Variant Annotation Tool 期刊论文

Human Mutation     ISSN:1059-7794  Volume:36  Issue:4  Page:E2423-E2429  

Ramos Alex H;   Lichtenstein Lee;   Gupta Manaswi;   Lawrence Michael S;   Pugh Trevor J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:155

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8    
The Matchmaker Exchange: a platform for rare disease gene discovery 期刊论文

Human Mutation     ISSN:1059-7794  Volume:36  Issue:10  Page:915-921  

Philippakis A.A;   Azzariti D.R;   Beltran S;   Brookes A.J;   Brownstein C.A;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:138

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9    
Updated Comprehensive Phylogenetic Tree of Global Human Mitochondrial DNA Variation 期刊论文

HUMAN MUTATION     ISSN:1059-7794  Volume:30  Issue:2  Page:E386-E394  

van Oven M;   Kayser M;  

被引频次:865

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10    
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions 期刊论文

Human Mutation   ISSN:1059-7794,1098-1004  Volume:32  Issue:8  Page:894-899  

Liu Xiaoming;   Jian Xueqiu;   Boerwinkle Eric;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:350

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11    
LOVD v.2.0: the next generation in gene variant databases 期刊论文

Human Mutation   ISSN:1059-7794,1098-1004  Volume:32  Issue:5  Page:557-563  

Fokkema Ivo F. A. C;   Taschner Peter E. M;   Schaafsma Gerard C. P;   Celli J;   Laros Jeroen F. J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:361

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12    
Locus‐specific mutation databases for neurodegenerative brain diseases 期刊论文

Human Mutation     ISSN:1059-7794  Volume:33  Issue:9  Page:1340-1344  

Cruts Marc;   Theuns Jessie;   Van Broeckhoven Christine;  

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:226

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13    
The TREAT‐NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations 期刊论文

Human Mutation     ISSN:1059-7794  Volume:36  Issue:4  Page:395-402  

Bladen Catherine L;   Salgado David;   Monges Soledad;   Foncuberta Maria E;   Kekou Kyriaki;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:129

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14    
Performance of mutation pathogenicity prediction methods on missense variants 期刊论文

Human Mutation   ISSN:1059-7794,1098-1004  Volume:32  Issue:4  Page:358-368  

Thusberg Janita;   Olatubosun Ayodeji;   Vihinen Mauno;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:296

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15    
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases 期刊论文

Human Mutation     ISSN:1059-7794  Volume:34  Issue:12  Page:1721-1726  

Neveling K;   Feenstra I;   Gilissen C;   Hoefsloot L.H;   Kamsteeg E.J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:154

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16    
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database 期刊论文

Human Mutation     ISSN:1059-7794  Volume:28  Issue:6  Page:622-629  

Petitjean Audrey;   Mathe Ewy;   Kato Shunsuke;   Ishioka Chikashi;   Tavtigian Sean V;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:1011

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17    
Genome-Wide Identification of SNPs in MicroRNA Genes and the SNP Effects on MicroRNA Target Binding and Biogenesis 期刊论文

HUMAN MUTATION     ISSN:1059-7794  Volume:33  Issue:1  Page:254-263  

Gong J;   Tong Y;   Zhang HM;   Wang K;   Hu T;   ...

被引频次:205

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18    
Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics 期刊论文

Human Mutation     ISSN:1059-7794  Volume:34  Issue:7  Page:1035-1042  

Sikkema‐Raddatz Birgit;   Johansson Lennart F;   Boer Eddy N;   Almomani Rowida;   Boven Ludolf G;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:150

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19    
The Androgen Receptor Gene Mutations Database: 2012 Update 期刊论文

HUMAN MUTATION     ISSN:1059-7794  Volume:33  Issue:5  Page:887-894  

Gottlieb B;   Beitel LK;   Nadarajah A;   Paliouras M;   Trifiro M;  

被引频次:187

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20    
HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups 期刊论文

Human Mutation   ISSN:1059-7794,1098-1004  Volume:32  Issue:1  Page:25-32  

Kloss‐Brandstätter Anita;   Pacher Dominic;   Schönherr Sebastian;   Weissensteiner Hansi;   Binna Robert;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:251

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