Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 93

1.

Polygenic Risk Scores Expand to Obesity.

Torkamani A, Topol E.

Cell. 2019 Apr 18;177(3):518-520. doi: 10.1016/j.cell.2019.03.051.

PMID:
31002792
2.

Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes.

Kumar A, Thomas SK, Wong KC, Lo Sardo V, Cheah DS, Hou YH, Placone JK, Tenerelli KP, Ferguson WC, Torkamani A, Topol EJ, Baldwin KK, Engler AJ.

Nat Biomed Eng. 2019 Feb;3(2):137-146. doi: 10.1038/s41551-018-0344-5. Epub 2019 Jan 28.

PMID:
30911429
3.

Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.

Rubanovich CK, Cheung C, Torkamani A, Bloss CS.

Pediatrics. 2019 Jan;143(Suppl 1):S44-S53. doi: 10.1542/peds.2018-1099I.

PMID:
30600271
4.

Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing.

Lo Sardo V, Chubukov P, Ferguson W, Kumar A, Teng EL, Duran M, Zhang L, Cost G, Engler AJ, Urnov F, Topol EJ, Torkamani A, Baldwin KK.

Cell. 2018 Dec 13;175(7):1796-1810.e20. doi: 10.1016/j.cell.2018.11.014. Epub 2018 Dec 6.

PMID:
30528432
5.

A primer on deep learning in genomics.

Zou J, Huss M, Abid A, Mohammadi P, Torkamani A, Telenti A.

Nat Genet. 2019 Jan;51(1):12-18. doi: 10.1038/s41588-018-0295-5. Epub 2018 Nov 26. Review.

PMID:
30478442
6.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P.

Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305.

7.

Returning Results to Family Members: Professional Duties in Genomics Research in the United States.

Fox D, Spencer E, Torkamani A.

J Leg Med. 2018 Apr-Jun;38(2):201-219. doi: 10.1080/01947648.2017.1417934.

PMID:
30289737
8.

Drilling for Insight: Forecasting Phenotype from Genotype.

Torkamani A.

Trends Genet. 2018 Nov;34(11):821-822. doi: 10.1016/j.tig.2018.09.001. Epub 2018 Sep 13.

PMID:
30220472
9.

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.

Molparia B, Schrader BN, Cohen E, Wagner JL, Gupta SR, Gould S, Hwynn N, Spencer EG, Torkamani A.

PeerJ. 2018 Jul 20;6:e5308. doi: 10.7717/peerj.5308. eCollection 2018.

10.

When genomics goes digital.

Muse ED, Torkamani A, Topol EJ.

Lancet. 2018 Jun 16;391(10138):2405. doi: 10.1016/S0140-6736(18)31272-8. No abstract available.

PMID:
29916375
11.

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.

Molparia B, Oliveira G, Wagner JL, Spencer EG, Torkamani A.

PLoS One. 2018 May 23;13(5):e0196826. doi: 10.1371/journal.pone.0196826. eCollection 2018.

12.

The personal and clinical utility of polygenic risk scores.

Torkamani A, Wineinger NE, Topol EJ.

Nat Rev Genet. 2018 Sep;19(9):581-590. doi: 10.1038/s41576-018-0018-x. Review.

PMID:
29789686
13.

Diverse reprogramming codes for neuronal identity.

Tsunemoto R, Lee S, Szűcs A, Chubukov P, Sokolova I, Blanchard JW, Eade KT, Bruggemann J, Wu C, Torkamani A, Sanna PP, Baldwin KK.

Nature. 2018 May;557(7705):375-380. doi: 10.1038/s41586-018-0103-5. Epub 2018 May 9.

14.

Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Rueda M, Wagner JL, Phillips TC, Topol SE, Muse ED, Lucas JR, Wagner GN, Topol EJ, Torkamani A.

Front Cardiovasc Med. 2018 Jan 24;4:90. doi: 10.3389/fcvm.2017.00090. eCollection 2017.

15.

Microdroplet PCR for Highly Multiplexed Targeted Bisulfite Sequencing.

Komori HK, LaMere SA, Hart T, Head SR, Torkamani A, Salomon DR.

Methods Mol Biol. 2018;1708:333-348. doi: 10.1007/978-1-4939-7481-8_17.

PMID:
29224152
16.

Immunogenetic factors driving formation of ultralong VH CDR3 in Bos taurus antibodies.

Deiss TC, Vadnais M, Wang F, Chen PL, Torkamani A, Mwangi W, Lefranc MP, Criscitiello MF, Smider VV.

Cell Mol Immunol. 2019 Jan;16(1):53-64. doi: 10.1038/cmi.2017.117. Epub 2017 Dec 4.

PMID:
29200193
17.

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Rueda M, Wagner JL, Phillips TC, Topol SE, Muse ED, Lucas JR, Wagner GN, Topol EJ, Torkamani A.

Front Cardiovasc Med. 2017 Nov 9;4:72. doi: 10.3389/fcvm.2017.00072. eCollection 2017. Erratum in: Front Cardiovasc Med. 2018 Jan 24;4:90.

18.

A Whole Blood Molecular Signature for Acute Myocardial Infarction.

Muse ED, Kramer ER, Wang H, Barrett P, Parviz F, Novotny MA, Lasken RS, Jatkoe TA, Oliveira G, Peng H, Lu J, Connelly MC, Schilling K, Rao C, Torkamani A, Topol EJ.

Sci Rep. 2017 Sep 25;7(1):12268. doi: 10.1038/s41598-017-12166-0.

19.

Efficacy of the Autoimmune Protocol Diet for Inflammatory Bowel Disease.

Konijeti GG, Kim N, Lewis JD, Groven S, Chandrasekaran A, Grandhe S, Diamant C, Singh E, Oliveira G, Wang X, Molparia B, Torkamani A.

Inflamm Bowel Dis. 2017 Nov;23(11):2054-2060. doi: 10.1097/MIB.0000000000001221.

20.

High-Definition Medicine.

Torkamani A, Andersen KG, Steinhubl SR, Topol EJ.

Cell. 2017 Aug 24;170(5):828-843. doi: 10.1016/j.cell.2017.08.007. Review.

21.

SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort.

Rueda M, Torkamani A.

BMC Bioinformatics. 2017 Aug 18;18(1):373. doi: 10.1186/s12859-017-1778-6.

22.

Assessment of circulating copy number variant detection for cancer screening.

Molparia B, Nichani E, Torkamani A.

PLoS One. 2017 Jul 7;12(7):e0180647. doi: 10.1371/journal.pone.0180647. eCollection 2017.

23.

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A.

Genet Med. 2017 Oct;19(10):1179-1183. doi: 10.1038/gim.2017.20. Epub 2017 Apr 6.

24.

Postmortem Genetic Testing for Sudden Unexpected Death-Reply.

Torkamani A.

JAMA. 2017 Jan 17;317(3):321. doi: 10.1001/jama.2016.19277. No abstract available.

PMID:
28114548
25.

Liquid Biopsies for Cancer: Coming to a Patient near You.

Krishnamurthy N, Spencer E, Torkamani A, Nicholson L.

J Clin Med. 2017 Jan 4;6(1). pii: E3. doi: 10.3390/jcm6010003. Review.

26.

Patient perspectives on whole-genome sequencing for undiagnosed diseases.

Boeldt DL, Cheung C, Ariniello L, Darst BF, Topol S, Schork NJ, Philis-Tsimikas A, Torkamani A, Fortmann AL, Bloss CS.

Per Med. 2017 Jan;14(1):17-25. doi: 10.2217/pme-2016-0050. Epub 2016 Nov 30.

PMID:
29749824
27.

Characterisation of electrospun gelatine nanofibres encapsulated with Moringa oleifera bioactive extract.

Hani NM, Torkamani AE, Azarian MH, Mahmood KW, Ngalim SH.

J Sci Food Agric. 2017 Aug;97(10):3348-3358. doi: 10.1002/jsfa.8185. Epub 2017 Jan 26.

PMID:
27981649
28.

Influence of donor age on induced pluripotent stem cells.

Lo Sardo V, Ferguson W, Erikson GA, Topol EJ, Baldwin KK, Torkamani A.

Nat Biotechnol. 2017 Jan;35(1):69-74. doi: 10.1038/nbt.3749. Epub 2016 Dec 12.

29.

Molecular Autopsy for Sudden Unexpected Death.

Torkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, Topol EJ.

JAMA. 2016 Oct 11;316(14):1492-1494. doi: 10.1001/jama.2016.11445. No abstract available.

30.

Erratum: Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.

Sieberts SK, Zhu F, García-García J, Stahl E, Pratap A, Pandey G, Pappas D, Aguilar D, Anton B, Bonet J, Eksi R, Fornés O, Guney E, Li H, Marín MA, Panwar B, Planas-Iglesias J, Poglayen D, Cui J, Falcao AO, Suver C, Hoff B, Balagurusamy VSK, Dillenberger D, Neto EC, Norman T, Aittokallio T, Ammad-Ud-Din M, Azencott CA, Bellón V, Boeva V, Bunte K, Chheda H, Cheng L, Corander J, Dumontier M, Goldenberg A, Gopalacharyulu P, Hajiloo M, Hidru D, Jaiswal A, Kaski S, Khalfaoui B, Khan SA, Kramer ER, Marttinen P, Mezlini AM, Molparia B, Pirinen M, Saarela J, Samwald M, Stoven V, Tang H, Tang J, Torkamani A, Vert JP, Wang B, Wang T, Wennerberg K, Wineinger NE, Xiao G, Xie Y, Yeung R, Zhan X, Zhao C; Members of the Rheumatoid Arthritis Challenge Consortium, Greenberg J, Kremer J, Michaud K, Barton A, Coenen M, Mariette X, Miceli C, Shadick N, Weinblatt M, de Vries N, Tak PP, Gerlag D, Huizinga TWJ, Kurreeman F, Allaart CF, Bridges SL Jr, Criswell L, Moreland L, Klareskog L, Saevarsdottir S, Padyukov L, Gregersen PK, Friend S, Plenge R, Stolovitzky G, Oliva B, Guan Y, Mangravite LM.

Nat Commun. 2016 Oct 10;7:13205. doi: 10.1038/ncomms13205. No abstract available.

31.

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.

Sieberts SK, Zhu F, García-García J, Stahl E, Pratap A, Pandey G, Pappas D, Aguilar D, Anton B, Bonet J, Eksi R, Fornés O, Guney E, Li H, Marín MA, Panwar B, Planas-Iglesias J, Poglayen D, Cui J, Falcao AO, Suver C, Hoff B, Balagurusamy VSK, Dillenberger D, Neto EC, Norman T, Aittokallio T, Ammad-Ud-Din M, Azencott CA, Bellón V, Boeva V, Bunte K, Chheda H, Cheng L, Corander J, Dumontier M, Goldenberg A, Gopalacharyulu P, Hajiloo M, Hidru D, Jaiswal A, Kaski S, Khalfaoui B, Khan SA, Kramer ER, Marttinen P, Mezlini AM, Molparia B, Pirinen M, Saarela J, Samwald M, Stoven V, Tang H, Tang J, Torkamani A, Vert JP, Wang B, Wang T, Wennerberg K, Wineinger NE, Xiao G, Xie Y, Yeung R, Zhan X, Zhao C; Members of the Rheumatoid Arthritis Challenge Consortium, Greenberg J, Kremer J, Michaud K, Barton A, Coenen M, Mariette X, Miceli C, Shadick N, Weinblatt M, de Vries N, Tak PP, Gerlag D, Huizinga TWJ, Kurreeman F, Allaart CF, Louis Bridges S Jr, Criswell L, Moreland L, Klareskog L, Saevarsdottir S, Padyukov L, Gregersen PK, Friend S, Plenge R, Stolovitzky G, Oliva B, Guan Y, Mangravite LM.

Nat Commun. 2016 Aug 23;7:12460. doi: 10.1038/ncomms12460. Erratum in: Nat Commun. 2016 Oct 10;7:13205.

32.

High-performance web services for querying gene and variant annotation.

Xin J, Mark A, Afrasiabi C, Tsueng G, Juchler M, Gopal N, Stupp GS, Putman TE, Ainscough BJ, Griffith OL, Torkamani A, Whetzel PL, Mungall CJ, Mooney SD, Su AI, Wu C.

Genome Biol. 2016 May 6;17(1):91. doi: 10.1186/s13059-016-0953-9.

33.

Whole-Genome Sequencing of a Healthy Aging Cohort.

Erikson GA, Bodian DL, Rueda M, Molparia B, Scott ER, Scott-Van Zeeland AA, Topol SE, Wineinger NE, Niederhuber JE, Topol EJ, Torkamani A.

Cell. 2016 May 5;165(4):1002-11. doi: 10.1016/j.cell.2016.03.022. Epub 2016 Apr 21.

34.

Effect of ultrasound-enhanced fat separation on whey powder phospholipid composition and stability.

Torkamani AE, Juliano P, Fagan P, Jiménez-Flores R, Ajlouni S, Singh TK.

J Dairy Sci. 2016 Jun;99(6):4169-4177. doi: 10.3168/jds.2015-10422. Epub 2016 Apr 6.

35.

The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning.

Hazen JL, Faust GG, Rodriguez AR, Ferguson WC, Shumilina S, Clark RA, Boland MJ, Martin G, Chubukov P, Tsunemoto RK, Torkamani A, Kupriyanov S, Hall IM, Baldwin KK.

Neuron. 2016 Mar 16;89(6):1223-1236. doi: 10.1016/j.neuron.2016.02.004. Epub 2016 Mar 3.

36.

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

37.

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 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Jun;17(6):515.

38.

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.

39.

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.

40.

Symptom-driven idiopathic disease gene identification.

Molparia B, Pham PH, Torkamani A.

Genet Med. 2015 Nov;17(11):859-65. doi: 10.1038/gim.2014.202. Epub 2015 Jan 15.

41.

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

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

Genet Med. 2015 Sep;17(9):714-8. doi: 10.1038/gim.2014.180. Epub 2014 Dec 18.

42.

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):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19.

43.

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.

44.

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.

45.

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
46.

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.

47.

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.

48.

Protein-protein interaction prediction by combined analysis of genomic and conservation information.

Emamjomeh A, Goliaei B, Torkamani A, Ebrahimpour R, Mohammadi N, Parsian A.

Genes Genet Syst. 2014;89(6):259-72. doi: 10.1266/ggs.89.259.

49.

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
50.

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.

Supplemental Content

Loading ...
Support Center