Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 16

1.

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2019 Jul 26. doi: 10.1038/s41436-019-0624-9. [Epub ahead of print]

PMID:
31346256
2.

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, Capriotti E, Casadio R, Van Durme J, Giollo M, Karchin R, Katsonis P, Leonardi E, Lichtarge O, Martelli PL, Masica D, Mooney SD, Olatubosun A, Radivojac P, Rousseau F, Pal LR, Savojardo C, Schymkowitz J, Thusberg J, Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I.

Hum Mutat. 2019 Sep;40(9):1530-1545. doi: 10.1002/humu.23868. Epub 2019 Sep 3.

PMID:
31301157
3.

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

Cai B, Li B, Kiga N, Thusberg J, Bergquist T, Chen YC, Niknafs N, Carter H, Tokheim C, Beleva-Guthrie V, Douville C, Bhattacharya R, Yeo HTG, Fan J, Sengupta S, Kim D, Cline M, Turner T, Diekhans M, Zaucha J, Pal LR, Cao C, Yu CH, Yin Y, Carraro M, Giollo M, Ferrari C, Leonardi E, Tosatto SCE, Bobe J, Ball M, Hoskins RA, Repo S, Church G, Brenner SE, Moult J, Gough J, Stanke M, Karchin R, Mooney SD.

Hum Mutat. 2017 Sep;38(9):1266-1276. doi: 10.1002/humu.23265. Epub 2017 Jun 19.

4.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2019 Jul 26;:.

5.

In silico comparative characterization of pharmacogenomic missense variants.

Li B, Seligman C, Thusberg J, Miller JL, Auer J, Whirl-Carrillo M, Capriotti E, Klein TE, Mooney SD.

BMC Genomics. 2014;15 Suppl 4:S4. doi: 10.1186/1471-2164-15-S4-S4. Epub 2014 May 20.

6.

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A.

ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013.

7.

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.

Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.

8.

Comprehensive molecular portraits of human breast tumours.

Cancer Genome Atlas Network.

Nature. 2012 Oct 4;490(7418):61-70. doi: 10.1038/nature11412. Epub 2012 Sep 23.

9.

PON-P: integrated predictor for pathogenicity of missense variants.

Olatubosun A, Väliaho J, Härkönen J, Thusberg J, Vihinen M.

Hum Mutat. 2012 Aug;33(8):1166-74. doi: 10.1002/humu.22102. Epub 2012 May 7.

PMID:
22505138
10.

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Funghini S, Thusberg J, Spada M, Gasperini S, Parini R, Ventura L, Meli C, De Cosmo L, Sibilio M, Mooney SD, Guerrini R, Donati MA, Morrone A.

Gene. 2012 Feb 10;493(2):228-34. doi: 10.1016/j.gene.2011.11.052. Epub 2011 Dec 7.

PMID:
22173106
11.

Performance of mutation pathogenicity prediction methods on missense variants.

Thusberg J, Olatubosun A, Vihinen M.

Hum Mutat. 2011 Apr;32(4):358-68. doi: 10.1002/humu.21445. Epub 2011 Feb 22.

PMID:
21412949
12.

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Thusberg J, Vihinen M.

Hum Mutat. 2009 May;30(5):703-14. doi: 10.1002/humu.20938. Review.

PMID:
19267389
13.

Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.

Fan YM, Karhunen PJ, Levula M, Ilveskoski E, Mikkelsson J, Kajander OA, Järvinen O, Oksala N, Thusberg J, Vihinen M, Salenius JP, Kytömäki L, Soini JT, Laaksonen R, Lehtimäki T.

Thromb J. 2008 Dec 30;6:17. doi: 10.1186/1477-9560-6-17.

14.

Genome wide analysis of pathogenic SH2 domain mutations.

Lappalainen I, Thusberg J, Shen B, Vihinen M.

Proteins. 2008 Aug;72(2):779-92. doi: 10.1002/prot.21970.

PMID:
18260110
15.

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J, Vihinen M.

Protein Eng Des Sel. 2007 Mar;20(3):133-41. Epub 2007 Feb 16.

PMID:
17307885
16.

Supplemental Content

Loading ...
Support Center