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Items: 13

1.

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.

2.

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.

3.

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.

4.

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.

5.

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
6.

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.

7.

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.

8.

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.

9.

Fluid phase biopsy for detection and characterization of circulating endothelial cells in myocardial infarction.

Bethel K, Luttgen MS, Damani S, Kolatkar A, Lamy R, Sabouri-Ghomi M, Topol S, Topol EJ, Kuhn P.

Phys Biol. 2014 Feb;11(1):016002. doi: 10.1088/1478-3975/11/1/016002. Epub 2014 Jan 9.

10.

Comparison of 24-hour Holter monitoring with 14-day novel adhesive patch electrocardiographic monitoring.

Barrett PM, Komatireddy R, Haaser S, Topol S, Sheard J, Encinas J, Fought AJ, Topol EJ.

Am J Med. 2014 Jan;127(1):95.e11-7. doi: 10.1016/j.amjmed.2013.10.003. Epub 2013 Oct 15.

11.

Characterization of circulating endothelial cells in acute myocardial infarction.

Damani S, Bacconi A, Libiger O, Chourasia AH, Serry R, Gollapudi R, Goldberg R, Rapeport K, Haaser S, Topol S, Knowlton S, Bethel K, Kuhn P, Wood M, Carragher B, Schork NJ, Jiang J, Rao C, Connelly M, Fowler VM, Topol EJ.

Sci Transl Med. 2012 Mar 21;4(126):126ra33. doi: 10.1126/scitranslmed.3003451.

12.

Mutation of MEF2A in an inherited disorder with features of coronary artery disease.

Wang L, Fan C, Topol SE, Topol EJ, Wang Q.

Science. 2003 Nov 28;302(5650):1578-81.

13.

[The use of new dietary products in constipation].

Kanoshchev PA, Topol' SL.

Vrach Delo. 1991 Apr;(4):95-7. Russian. No abstract available.

PMID:
1648287

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