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Items: 10

1.

The role of protein intrinsic disorder in major psychiatric disorders.

Tovo-Rodrigues L, Recamonde-Mendoza M, Paixão-Côrtes VR, Bruxel EM, Schuch JB, Friedrich DC, Rohde LA, Hutz MH.

Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):848-60. doi: 10.1002/ajmg.b.32455. Epub 2016 May 17.

PMID:
27184105
2.

The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.

Schuch JB, Paixão-Côrtes VR, Friedrich DC, Tovo-Rodrigues L.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):479-91. doi: 10.1002/ajmg.b.32431. Epub 2016 Feb 19.

PMID:
26892727
3.

The lactase persistence genotype is a protective factor for the metabolic syndrome.

Friedrich DC, de Andrade FM, Fiegenbaum M, de Almeida S, Mattevi VS, Callegari-Jacques SM, Hutz MH.

Genet Mol Biol. 2014 Oct;37(4):611-5. doi: 10.1590/S1415-47572014005000012. Epub 2014 Oct 21.

4.

Distribution of CYP2D6 alleles and phenotypes in the Brazilian population.

Friedrich DC, Genro JP, Sortica VA, Suarez-Kurtz G, de Moraes ME, Pena SD, dos Santos AK, Romano-Silva MA, Hutz MH.

PLoS One. 2014 Oct 20;9(10):e110691. doi: 10.1371/journal.pone.0110691. eCollection 2014.

5.

Cytokine gene polymorphisms are associated with susceptibility to tuberculosis in an Amerindian population.

Lindenau JD, Guimarães LS, Friedrich DC, Hurtado AM, Hill KR, Salzano FM, Hutz MH.

Int J Tuberc Lung Dis. 2014 Aug;18(8):952-7. doi: 10.5588/ijtld.14.0060.

PMID:
25199010
6.

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, Jane-Valbuena J, Friedrich DC, Kryukov G, Carter SL, McKenna A, Sivachenko A, Rosenberg M, Kiezun A, Voet D, Lawrence M, Lichtenstein LT, Gentry JG, Huang FW, Fostel J, Farlow D, Barbie D, Gandhi L, Lander ES, Gray SW, Joffe S, Janne P, Garber J, MacConaill L, Lindeman N, Rollins B, Kantoff P, Fisher SA, Gabriel S, Getz G, Garraway LA.

Nat Med. 2014 Jun;20(6):682-8. doi: 10.1038/nm.3559. Epub 2014 May 18.

7.

MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.

Wagle N, Van Allen EM, Treacy DJ, Frederick DT, Cooper ZA, Taylor-Weiner A, Rosenberg M, Goetz EM, Sullivan RJ, Farlow DN, Friedrich DC, Anderka K, Perrin D, Johannessen CM, McKenna A, Cibulskis K, Kryukov G, Hodis E, Lawrence DP, Fisher S, Getz G, Gabriel SB, Carter SL, Flaherty KT, Wargo JA, Garraway LA.

Cancer Discov. 2014 Jan;4(1):61-8. doi: 10.1158/2159-8290.CD-13-0631. Epub 2013 Nov 21.

8.

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.

Costello M, Pugh TJ, Fennell TJ, Stewart C, Lichtenstein L, Meldrim JC, Fostel JL, Friedrich DC, Perrin D, Dionne D, Kim S, Gabriel SB, Lander ES, Fisher S, Getz G.

Nucleic Acids Res. 2013 Apr 1;41(6):e67. doi: 10.1093/nar/gks1443. Epub 2013 Jan 8.

9.

Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.

Friedrich DC, Santos SE, Ribeiro-dos-Santos ÂK, Hutz MH.

PLoS One. 2012;7(9):e46520. doi: 10.1371/journal.pone.0046520. Epub 2012 Sep 28.

10.

Stability or variation? Patterns of lactase gene and its enhancer region distributions in Brazilian Amerindians.

Friedrich DC, Callegari-Jacques SM, Petzl-Erler ML, Tsuneto L, Salzano FM, Hutz MH.

Am J Phys Anthropol. 2012 Mar;147(3):427-32. doi: 10.1002/ajpa.22010. Epub 2012 Jan 23.

PMID:
22271590

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