442 related articles for article (PubMed ID: 32596782)
1. The Human Gene Mutation Database (HGMD
Stenson PD; Mort M; Ball EV; Chapman M; Evans K; Azevedo L; Hayden M; Heywood S; Millar DS; Phillips AD; Cooper DN
Hum Genet; 2020 Oct; 139(10):1197-1207. PubMed ID: 32596782
[TBL] [Abstract][Full Text] [Related]
2. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Stenson PD; Mort M; Ball EV; Evans K; Hayden M; Heywood S; Hussain M; Phillips AD; Cooper DN
Hum Genet; 2017 Jun; 136(6):665-677. PubMed ID: 28349240
[TBL] [Abstract][Full Text] [Related]
3. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
Stenson PD; Mort M; Ball EV; Shaw K; Phillips A; Cooper DN
Hum Genet; 2014 Jan; 133(1):1-9. PubMed ID: 24077912
[TBL] [Abstract][Full Text] [Related]
4. Human Gene Mutation Database (HGMD): 2003 update.
Stenson PD; Ball EV; Mort M; Phillips AD; Shiel JA; Thomas NS; Abeysinghe S; Krawczak M; Cooper DN
Hum Mutat; 2003 Jun; 21(6):577-81. PubMed ID: 12754702
[TBL] [Abstract][Full Text] [Related]
5. The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
Cooper DN; Stenson PD; Chuzhanova NA
Curr Protoc Bioinformatics; 2006 Jan; Chapter 1():Unit 1.13. PubMed ID: 18428754
[TBL] [Abstract][Full Text] [Related]
6. The human gene mutation database.
Cooper DN; Ball EV; Krawczak M
Nucleic Acids Res; 1998 Jan; 26(1):285-7. PubMed ID: 9399854
[TBL] [Abstract][Full Text] [Related]
7. The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.
Stenson PD; Ball EV; Mort M; Phillips AD; Shaw K; Cooper DN
Curr Protoc Bioinformatics; 2012 Sep; Chapter 1():1.13.1-1.13.20. PubMed ID: 22948725
[TBL] [Abstract][Full Text] [Related]
8. Human gene mutation database-a biomedical information and research resource.
Krawczak M; Ball EV; Fenton I; Stenson PD; Abeysinghe S; Thomas N; Cooper DN
Hum Mutat; 2000; 15(1):45-51. PubMed ID: 10612821
[TBL] [Abstract][Full Text] [Related]
9. The Human Gene Mutation Database: 2008 update.
Stenson PD; Mort M; Ball EV; Howells K; Phillips AD; Thomas NS; Cooper DN
Genome Med; 2009 Jan; 1(1):13. PubMed ID: 19348700
[TBL] [Abstract][Full Text] [Related]
10. General mutation databases: analysis and review.
George RA; Smith TD; Callaghan S; Hardman L; Pierides C; Horaitis O; Wouters MA; Cotton RG
J Med Genet; 2008 Feb; 45(2):65-70. PubMed ID: 17893115
[TBL] [Abstract][Full Text] [Related]
11. An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD
Salnikova LE; Kolobkov DS; Sviridova DA; Abilev SK
Hum Genet; 2021 Sep; 140(9):1379-1393. PubMed ID: 34272616
[TBL] [Abstract][Full Text] [Related]
12. Cataloging coding sequence variations in human genome databases.
Won HH; Kim HJ; Lee KA; Kim JW
PLoS One; 2008; 3(10):e3575. PubMed ID: 18974781
[TBL] [Abstract][Full Text] [Related]
13. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
Hu C; Hart SN; Polley EC; Gnanaolivu R; Shimelis H; Lee KY; Lilyquist J; Na J; Moore R; Antwi SO; Bamlet WR; Chaffee KG; DiCarlo J; Wu Z; Samara R; Kasi PM; McWilliams RR; Petersen GM; Couch FJ
JAMA; 2018 Jun; 319(23):2401-2409. PubMed ID: 29922827
[TBL] [Abstract][Full Text] [Related]
14. Drug firms to create public database of genetic mutations.
Marshall E
Science; 1999 Apr; 284(5413):406-7. PubMed ID: 10232976
[No Abstract] [Full Text] [Related]
15. Red blood cell PK deficiency: An update of PK-LR gene mutation database.
Canu G; De Bonis M; Minucci A; Capoluongo E
Blood Cells Mol Dis; 2016 Mar; 57():100-9. PubMed ID: 26832193
[TBL] [Abstract][Full Text] [Related]
16. Molecular genetic epidemiology of human diseases: from patterns to predictions.
Knecht C; Krawczak M
Hum Genet; 2014 Apr; 133(4):425-30. PubMed ID: 24241280
[TBL] [Abstract][Full Text] [Related]
17. Genetic variants of the DNA repair genes from Exome Aggregation Consortium (EXAC) database: significance in cancer.
Das R; Ghosh SK
DNA Repair (Amst); 2017 Apr; 52():92-102. PubMed ID: 28259467
[TBL] [Abstract][Full Text] [Related]
18. Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.
Tan EC; Loh M; Chuon D; Lim YP
Hum Mutat; 2006 Mar; 27(3):232-5. PubMed ID: 16429432
[TBL] [Abstract][Full Text] [Related]
19. The novel human SHOX allelic variant database.
Niesler B; Röth R; Wilke S; Fujimura F; Fischer C; Rappold G
Hum Mutat; 2007 Oct; 28(10):933-8. PubMed ID: 17726696
[TBL] [Abstract][Full Text] [Related]
20. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
Wolf A; Caliebe A; Thomas NS; Ball EV; Mort M; Stenson PD; Krawczak M; Cooper DN
Hum Mutat; 2011 Oct; 32(10):1137-43. PubMed ID: 21681852
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
