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Results: 1 to 20 of 56

1.

A genome sequencing program for novel undiagnosed diseases.

Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A.

Genet Med. 2015 Mar 19. doi: 10.1038/gim.2015.21. [Epub ahead of print]

PMID:
25790160
2.

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.

Pham PH, Shipman WJ, Erikson GA, Schork NJ, Torkamani A.

PLoS One. 2015 Feb 23;10(2):e0116815. doi: 10.1371/journal.pone.0116815. eCollection 2015.

3.

Digital medical tools and sensors.

Topol EJ, Steinhubl SR, Torkamani A.

JAMA. 2015 Jan 27;313(4):353-4. doi: 10.1001/jama.2014.17125. No abstract available.

PMID:
25626031
4.

Symptom-driven idiopathic disease gene identification.

Molparia B, Pham PH, Torkamani A.

Genet Med. 2015 Jan 15. doi: 10.1038/gim.2014.202. [Epub ahead of print]

PMID:
25590976
5.

SG-ADVISER CNV: copy-number variant annotation and interpretation.

Erikson GA, Deshpande N, Kesavan BG, Torkamani A.

Genet Med. 2014 Dec 18. doi: 10.1038/gim.2014.180. [Epub ahead of print]

PMID:
25521334
6.

De novo KCNB1 mutations in epileptic encephalopathy.

Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA.

Ann Neurol. 2014 Oct;76(4):529-40. doi: 10.1002/ana.24263. Epub 2014 Sep 19.

PMID:
25164438
7.

Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay.

Larman HB, Scott ER, Wogan M, Oliveira G, Torkamani A, Schultz PG.

Nucleic Acids Res. 2014 Aug;42(14):9146-57. doi: 10.1093/nar/gku636. Epub 2014 Jul 25.

8.

ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma.

Belani R, Oliveira G, Erikson GA, Ra S, Schechter MS, Lee JK, Shipman WJ, Haaser SM, Torkamani A.

Oncogenesis. 2014 Jul 7;3:e111. doi: 10.1038/oncsis.2014.25.

9.

Lipid oxidation volatiles absent in milk after selected ultrasound processing.

Juliano P, Torkamani AE, Leong T, Kolb V, Watkins P, Ajlouni S, Singh TK.

Ultrason Sonochem. 2014 Nov;21(6):2165-75. doi: 10.1016/j.ultsonch.2014.03.001. Epub 2014 Mar 12.

PMID:
24704065
10.

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A.

Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.

PMID:
24700542
11.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

12.

Impact of ultrasound treatment on lipid oxidation of Cheddar cheese whey.

Torkamani AE, Juliano P, Ajlouni S, Singh TK.

Ultrason Sonochem. 2014 May;21(3):951-7. doi: 10.1016/j.ultsonch.2013.11.021. Epub 2013 Dec 8.

PMID:
24360841
13.

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.

Paliwal A, Temkin AM, Kerkel K, Yale A, Yotova I, Drost N, Lax S, Nhan-Chang CL, Powell C, Borczuk A, Aviv A, Wapner R, Chen X, Nagy PL, Schork N, Do C, Torkamani A, Tycko B.

PLoS Genet. 2013 Aug;9(8):e1003622. doi: 10.1371/journal.pgen.1003622. Epub 2013 Aug 29.

14.

Evidence for the role of EPHX2 gene variants in anorexia nervosa.

Scott-Van Zeeland AA, Bloss CS, Tewhey R, Bansal V, Torkamani A, Libiger O, Duvvuri V, Wineinger N, Galvez L, Darst BF, Smith EN, Carson A, Pham P, Phillips T, Villarasa N, Tisch R, Zhang G, Levy S, Murray S, Chen W, Srinivasan S, Berenson G, Brandt H, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson C, Kaplan AS, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB, Bulik CM, Keel P, Klump KL, Lilenfeld L, Plotnicov K, Topol EJ, Shih PB, Magistretti P, Bergen AW, Berrettini W, Kaye W, Schork NJ.

Mol Psychiatry. 2014 Jun;19(6):724-32. doi: 10.1038/mp.2013.91. Epub 2013 Sep 3.

15.

Deep sequencing of the murine IgH repertoire reveals complex regulation of nonrandom V gene rearrangement frequencies.

Choi NM, Loguercio S, Verma-Gaur J, Degner SC, Torkamani A, Su AI, Oltz EM, Artyomov M, Feeney AJ.

J Immunol. 2013 Sep 1;191(5):2393-402. doi: 10.4049/jimmunol.1301279. Epub 2013 Jul 29.

16.

Reshaping antibody diversity.

Wang F, Ekiert DC, Ahmad I, Yu W, Zhang Y, Bazirgan O, Torkamani A, Raudsepp T, Mwangi W, Criscitiello MF, Wilson IA, Schultz PG, Smider VV.

Cell. 2013 Jun 6;153(6):1379-93. doi: 10.1016/j.cell.2013.04.049.

17.

All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs.

Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H; Tobacco and Genetics Consortium; Bipolar Disorder Psychiatric Genomics Consortium; Schizophrenia Psychiatric Genomics Consortium, Schork NJ, Andreassen OA, Dale AM.

PLoS Genet. 2013 Apr;9(4):e1003449. doi: 10.1371/journal.pgen.1003449. Epub 2013 Apr 25.

18.

Tcra gene recombination is supported by a Tcra enhancer- and CTCF-dependent chromatin hub.

Shih HY, Verma-Gaur J, Torkamani A, Feeney AJ, Galjart N, Krangel MS.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3493-502. doi: 10.1073/pnas.1214131109. Epub 2012 Nov 19.

19.

Clinical implications of human population differences in genome-wide rates of functional genotypes.

Torkamani A, Pham P, Libiger O, Bansal V, Zhang G, Scott-Van Zeeland AA, Tewhey R, Topol EJ, Schork NJ.

Front Genet. 2012 Nov 1;3:211. doi: 10.3389/fgene.2012.00211. eCollection 2012.

20.

Noncoding transcription within the Igh distal V(H) region at PAIR elements affects the 3D structure of the Igh locus in pro-B cells.

Verma-Gaur J, Torkamani A, Schaffer L, Head SR, Schork NJ, Feeney AJ.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):17004-9. doi: 10.1073/pnas.1208398109. Epub 2012 Oct 1.

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