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Items: 11


Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Electronic address:; eMERGE Consortium.

Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22.


Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H; MedSeq Project, Green RC, Lebo M, Rehm HL.

Am J Hum Genet. 2019 Jul 3;105(1):177-188. doi: 10.1016/j.ajhg.2019.05.017. Epub 2019 Jun 27.


A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.

Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF.

Am J Hum Genet. 2018 Sep 6;103(3):328-337. doi: 10.1016/j.ajhg.2018.07.009. Epub 2018 Aug 9.


Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH.

Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar.


The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.

Blau A, Brown A, Mahanta L, Amr SS.

J Pers Med. 2016 Feb 26;6(1). pii: E10. doi: 10.3390/jpm6010010.


The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine.

Boutin N, Holzbach A, Mahanta L, Aldama J, Cerretani X, Embree K, Leon I, Rathi N, Vickers M.

J Pers Med. 2016 Jan 21;6(1). pii: E6. doi: 10.3390/jpm6010006.


Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M.

J Pers Med. 2016 Jan 20;6(1). pii: E4. doi: 10.3390/jpm6010004.


VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS.

Genet Med. 2016 Jul;18(7):712-9. doi: 10.1038/gim.2015.156. Epub 2015 Dec 17.


Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS.

Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29.


Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH.

J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23.


The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.


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