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Items: 19

1.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL.

Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y.

2.

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID.

Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2.

PMID:
25730767
3.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

4.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS.

BMC Bioinformatics. 2014 Jul 21;15:248. doi: 10.1186/1471-2105-15-248.

5.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group.

Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Review. Erratum in: Genet Med. 2014 Feb;16(2):203.

6.

Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina.

Schurr TG, Dulik MC, Cafaro TA, Suarez MF, Urrets-Zavalia JA, Serra HM.

PLoS One. 2013 Sep 5;8(9):e74593. doi: 10.1371/journal.pone.0074593. eCollection 2013.

7.

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans.

Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Sarkissian CD, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, Luong K, Ho SY, Quintana-Murci L, Behar DM, Meller H, Alt KW, Cooper A; Genographic Consortium, Adhikarla S, Ganesh Prasad AK, Pitchappan R, Varatharajan Santhakumari A, Balanovska E, Balanovsky O, Bertranpetit J, Comas D, Martínez-Cruz B, Melé M, Clarke AC, Matisoo-Smith EA, Dulik MC, Gaieski JB, Owings AC, Schurr TG, Vilar MG, Hobbs A, Soodyall H, Javed A, Parida L, Platt DE, Royyuru AK, Jin L, Li S, Kaplan ME, Merchant NC, John Mitchell R, Renfrew C, Lacerda DR, Santos FR, Soria Hernanz DF, Spencer Wells R, Swamikrishnan P, Tyler-Smith C, Paulo Vieira P, Ziegle JS.

Nat Commun. 2013;4:1764. doi: 10.1038/ncomms2656.

8.

TNF promoter SNP variation in Amerindians and white-admixed women from Misiones, Argentina.

Badano I, Schurr TG, Stietz SM, Dulik MC, Mampaey M, Quintero IM, Zinovich JB, Campos RH, Liotta DJ.

Int J Immunogenet. 2013 Jun;40(3):216-21. doi: 10.1111/iji.12002. Epub 2012 Oct 18.

PMID:
23077985
9.

Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations.

Dulik MC, Owings AC, Gaieski JB, Vilar MG, Andre A, Lennie C, Mackenzie MA, Kritsch I, Snowshoe S, Wright R, Martin J, Gibson N, Andrews TD, Schurr TG; Genographic Consortium.

Proc Natl Acad Sci U S A. 2012 May 29;109(22):8471-6. doi: 10.1073/pnas.1118760109. Epub 2012 May 14.

10.

Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska.

Schurr TG, Dulik MC, Owings AC, Zhadanov SI, Gaieski JB, Vilar MG, Ramos J, Moss MB, Natkong F; Genographic Consortium.

Am J Phys Anthropol. 2012 Jul;148(3):422-35. doi: 10.1002/ajpa.22068. Epub 2012 May 1.

11.

Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians.

Dulik MC, Zhadanov SI, Osipova LP, Askapuli A, Gau L, Gokcumen O, Rubinstein S, Schurr TG.

Am J Hum Genet. 2012 Feb 10;90(2):229-46. doi: 10.1016/j.ajhg.2011.12.014. Epub 2012 Jan 25. Erratum in: Am J Hum Genet. 2012 Mar 9;90(3):573.

12.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ.

BMC Bioinformatics. 2011 Oct 19;12:402. doi: 10.1186/1471-2105-12-402.

13.

Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda.

Gaieski JB, Owings AC, Vilar MG, Dulik MC, Gaieski DF, Gittelman RM, Lindo J, Gau L, Schurr TG; Genographic Consortium.

Am J Phys Anthropol. 2011 Nov;146(3):392-405. doi: 10.1002/ajpa.21588. Epub 2011 Aug 24. Erratum in: Am J Phys Anthropol. 2012 Jul;148(3):486.

PMID:
21994016
14.

Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions.

Dulik MC, Osipova LP, Schurr TG.

PLoS One. 2011 Mar 11;6(3):e17548. doi: 10.1371/journal.pone.0017548.

15.

Dissecting the within-Africa ancestry of populations of African descent in the Americas.

Stefflova K, Dulik MC, Barnholtz-Sloan JS, Pai AA, Walker AH, Rebbeck TR.

PLoS One. 2011 Jan 6;6(1):e14495. doi: 10.1371/journal.pone.0014495.

16.

Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts.

Zhadanov SI, Dulik MC, Markley M, Jennings GW, Gaieski JB, Elias G, Schurr TG; Genographic Project Consortium.

Am J Phys Anthropol. 2010 Aug;142(4):579-89. doi: 10.1002/ajpa.21281.

PMID:
20229500
17.

Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas.

Stefflova K, Dulik MC, Pai AA, Walker AH, Zeigler-Johnson CM, Gueye SM, Schurr TG, Rebbeck TR.

PLoS One. 2009 Nov 25;4(11):e7842. doi: 10.1371/journal.pone.0007842.

18.

Russian Old Believers: genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence.

Rubinstein S, Dulik MC, Gokcumen O, Zhadanov S, Osipova L, Cocca M, Mehta N, Gubina M, Posukh O, Schurr TG.

Hum Biol. 2008 Jun;80(3):203-37. Erratum in: Hum Biol. 2008 Dec;80(6):675-7.

PMID:
19130794
19.

Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history.

Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, Osipova LP, Andreenkov OV, Tabikhanova LE, Gubina MA, Labuda D, Schurr TG.

Am J Phys Anthropol. 2008 Jul;136(3):278-93. doi: 10.1002/ajpa.20802.

PMID:
18322915
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