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Human Genetics(15,698)
ISSN: 0340-6717
1    
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:1-9  

Stenson Peter D;   Mort Matthew;   Ball Edward V;   Shaw Katy;   Phillips Andrew D;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:660

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2    
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing stu... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:136  Issue:6  Page:665-677  

Stenson Peter D;   Mort Matthew;   Ball Edward V;   Evans Katy;   Hayden Matthew;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:223

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3    
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease 期刊论文

Human Genetics     ISSN:0340-6717  Volume:132  Issue:10  Page:1077-1130  

Cooper David N;   Krawczak Michael;   Polychronakos Constantin;   Tyler-Smith Chris;   Kehrer-Sawatzki Hildegard;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:212

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4    
Candidate gene studies of ADHD: A meta-analytic review 期刊论文

Human Genetics     ISSN:0340-6717  Volume:126  Issue:1  Page:51-90  

Gizer Ian R;   Ficks Courtney;   Waldman Irwin D;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:590

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5    
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene 期刊论文

Human Genetics     ISSN:0340-6717  Volume:128  Issue:3  Page:345-350  

Tzur Shay;   Rosset Saharon;   Shemer Revital;   Yudkovsky Guennady;   Selig Sara;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:321

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6    
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets 期刊论文

Human Genetics     ISSN:0340-6717  Volume:131  Issue:5  Page:747-756  

Li Miao-Xin;   Yeung Juilian M. Y;   Cherny Stacey S;   Sham Pak C;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:197

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7    
Environmental epigenetics: prospects for studying epigenetic mediation of exposure–response relationships 期刊论文

Human Genetics     ISSN:0340-6717  Volume:131  Issue:10  Page:1565-1589  

Cortessis Victoria K;   Thomas Duncan C;   Levine A Joan;   Breton Carrie V;   Mack Thomas M;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:146

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8    
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial 期刊论文

Human Genetics     ISSN:0340-6717  Volume:135  Issue:3  Page:327-343  

Ghazi Nicola G;   Abboud Emad B;   Nowilaty Sawsan R;   Alkuraya Hisham;   Alhommadi Abdulrahman;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:77

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9    
Genome-wide association study of glioma and meta-analysis 期刊论文

Human Genetics     ISSN:0340-6717  Volume:131  Issue:12  Page:1877-1888  

Rajaraman Preetha;   Melin Beatrice S;   Wang Zhaoming;   McKean-Cowdin Roberta;   Michaud Dominique S;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:142

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10    
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes 期刊论文

Human Genetics     ISSN:0340-6717  Volume:136  Issue:8  Page:921-939  

Monies Dorota;   Abouelhoda Mohamed;   AlSayed Moeenaldeen;   Alhassnan Zuhair;   Alotaibi Maha;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:52

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11    
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss 期刊论文

Human Genetics     ISSN:0340-6717  Volume:135  Issue:4  Page:441-450  

Sloan-Heggen Christina M;   Bierer Amanda O;   Shearer A Eliot;   Kolbe Diana L;   Nishimura Carla J;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:76

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12    
The origin and impact of embryonic aneuploidy 期刊论文

Human Genetics     ISSN:0340-6717  Volume:132  Issue:9  Page:1001-1013  

Fragouli Elpida;   Alfarawati Samer;   Spath Katharina;   Jaroudi Souraya;   Sarasa Jonas;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:104

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13    
Genome-wide association studies in ADHD 期刊论文

Human Genetics     ISSN:0340-6717  Volume:126  Issue:1  Page:13-50  

Franke B;   Neale B.M;   Faraone S.V;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:247

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14    
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:3  Page:331-345  

Wang Feng;   Wang Hui;   Tuan Han-Fang;   Nguyen Duy H;   Sun Vincent;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:102

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15    
Clinical sequencing: is WGS the better WES? 期刊论文

Human Genetics     ISSN:0340-6717  Volume:135  Issue:3  Page:359-362  

Meienberg Janine;   Bruggmann Rémy;   Oexle Konrad;   Matyas Gabor;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:64

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16    
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia 期刊论文

Human Genetics     ISSN:0340-6717  Volume:130  Issue:4  Page:563-573  

Gauthier Julie;   Siddiqui Tabrez J;   Huashan Peng;   Yokomaku Daisaku;   Hamdan Fadi F;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:155

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17    
Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:9  Page:1149-1159  

Mengel-From Jonas;   Thinggaard Mikael;   Dalgård Christine;   Kyvik Kirsten Ohm;   Christensen Kaare;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:89

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18    
Genetics of healthy aging and longevity 期刊论文

Human Genetics     ISSN:0340-6717  Volume:132  Issue:12  Page:1323-1338  

Brooks-Wilson Angela R;  

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:104

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19    
Genomewide association study for susceptibility genes contributing to familial Parkinson disease 期刊论文

Human Genetics     ISSN:0340-6717  Volume:124  Issue:6  Page:593-605  

Pankratz Nathan;   Wilk Jemma B;   Latourelle Jeanne C;   DeStefano Anita L;   Halter Cheryl;   ...

来源数据库:[Web of Science, Scopus]         被引频次:297

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20    
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy 期刊论文

Human Genetics     ISSN:0340-6717  Volume:132  Issue:8  Page:865-884  

Halbritter Jan;   Porath Jonathan D;   Diaz Katrina A;   Braun Daniela A;   Kohl Stefan;   ...

来源数据库:[Web of Science, Scopus, SciTech Premium Collection]         被引频次:99

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