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Items: 11

1.

Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma.

Wang Z, Wei Y, Zhang R, Su L, Gogarten SM, Liu G, Brennan P, Field JK, McKay JD, Lissowska J, Swiatkowska B, Janout V, Bolca C, Kontic M, Scelo G, Zaridze D, Laurie CC, Doheny KF, Pugh EK, Marosy BA, Hetrick KN, Xiao X, Pikielny C, Hung RJ, Amos CI, Lin X, Christiani DC.

EBioMedicine. 2018 Jun;32:93-101. doi: 10.1016/j.ebiom.2018.05.024. Epub 2018 May 31.

2.

Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.

Marosy BA, Craig BD, Hetrick KN, Witmer PD, Ling H, Griffith SM, Myers B, Ostrander EA, Stanford JL, Brody LC, Doheny KF.

Curr Protoc Hum Genet. 2017 Jan 11;92:18.10.1-18.10.25. doi: 10.1002/cphg.27.

3.

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Minillo RM, Sobreira N, de Faria Soares Mde F, Jurgens J, Ling H, Hetrick KN, Doheny KF, Valle D, Brunoni D, Perez AB.

Mol Syndromol. 2014 Dec;5(6):268-75. doi: 10.1159/000369108. Epub 2014 Nov 25.

4.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP.

Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.

5.

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM.

Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. No abstract available.

6.

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data.

Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, Boehnke M, Kang HM.

Am J Hum Genet. 2012 Nov 2;91(5):839-48. doi: 10.1016/j.ajhg.2012.09.004. Epub 2012 Oct 25.

7.

Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR, McHugh CP, Ling H, Hetrick KN, Pugh EW, Amos C, Wei Q, Wang LE, Lee JE, Barnes KC, Hansel NN, Mathias R, Daley D, Beaty TH, Scott AF, Ruczinski I, Scharpf RB, Bierut LJ, Hartz SM, Landi MT, Freedman ND, Goldin LR, Ginsburg D, Li J, Desch KC, Strom SS, Blot WJ, Signorello LB, Ingles SA, Chanock SJ, Berndt SI, Le Marchand L, Henderson BE, Monroe KR, Heit JA, de Andrade M, Armasu SM, Regnier C, Lowe WL, Hayes MG, Marazita ML, Feingold E, Murray JC, Melbye M, Feenstra B, Kang JH, Wiggs JL, Jarvik GP, McDavid AN, Seshan VE, Mirel DB, Crenshaw A, Sharopova N, Wise A, Shen J, Crosslin DR, Levine DM, Zheng X, Udren JI, Bennett S, Nelson SC, Gogarten SM, Conomos MP, Heagerty P, Manolio T, Pasquale LR, Haiman CA, Caporaso N, Weir BS.

Nat Genet. 2012 May 6;44(6):642-50. doi: 10.1038/ng.2271.

8.

Copy number variation in familial Parkinson disease.

Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories.

PLoS One. 2011;6(8):e20988. doi: 10.1371/journal.pone.0020988. Epub 2011 Aug 2.

9.

A genome-wide association study on African-ancestry populations for asthma.

Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, Maul T, Jedlicka AE, Murray T, Hetmanski JB, Ashworth R, Ongaco CM, Hetrick KN, Doheny KF, Pugh EW, Rotimi CN, Ford J, Eng C, Burchard EG, Sleiman PM, Hakonarson H, Forno E, Raby BA, Weiss ST, Scott AF, Kabesch M, Liang L, Abecasis G, Moffatt MF, Cookson WO, Ruczinski I, Beaty TH, Barnes KC.

J Allergy Clin Immunol. 2010 Feb;125(2):336-346.e4. doi: 10.1016/j.jaci.2009.08.031. Epub 2009 Nov 11.

10.

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.

Ritchie ME, Carvalho BS, Hetrick KN, Tavaré S, Irizarry RA.

Bioinformatics. 2009 Oct 1;25(19):2621-3. doi: 10.1093/bioinformatics/btp470. Epub 2009 Aug 6.

11.

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M.

Science. 2007 Jun 1;316(5829):1341-5. Epub 2007 Apr 26.

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