Publications by authors named "Lisa Mahanta"

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The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Lisa Mahanta

Am J Hum Genet· October 2024

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Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V Harden, David Murdock, Lisa Mahanta

BMC Res Notes· March 2024

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Genetic Sex Validation for Sample Tracking in Clinical Testing.
Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V Harden, David Murdock, Lisa Mahanta

Res Sq· September 2023

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The Evolution of a Large Biobank at Mass General Brigham.
Natalie T Boutin, Samantha B Schecter, Emma F Perez, Natasha S Tchamitchian, Xander R Cerretani, Lisa M Mahanta

J Pers Med· August 2022

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Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
Hana Zouk, Wanfeng Yu, Andrea Oza, Megan Hawley, Prathik K Vijay Kumar, Lisa M Mahanta

Genet Med· February 2022

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Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Carrie L Blout Zawatsky, Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D Christensen, Lisa Mahanta

Am J Hum Genet· December 2021

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Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
Deanna G Brockman, Christina A Austin-Tse, Renée C Pelletier, Caroline Harley, Candace Patterson, Lisa M Mahanta

Genet Med· September 2021

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Ana Morales, Alexander Ing, Christian Antolik, Christina Austin-Tse, Linnea M Baudhuin, Lisa Mahanta

J Mol Diagn· May 2021

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Remote Fingerstick Blood Collection for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Antibody Testing.
Wilfredo F Garcia-Beltran, Tyler E Miller, Grace Kirkpatrick, Andrea Nixon, Michael G Astudillo, Lisa M Mahanta

Arch Pathol Lab Med· April 2021

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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Kalotina Machini, Ozge Ceyhan-Birsoy, Danielle R Azzariti, Himanshu Sharma, Peter Rossetti, Lisa Mahanta

Am J Hum Genet· July 2019

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A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Marci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, D'Andra M Lindbuchler, Miranda L G Hallquist, Lisa Marie Mahanta

Am J Hum Genet· September 2018

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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Trevor J Pugh, Sami S Amr, Mark J Bowser, Sivakumar Gowrisankar, Elizabeth Hynes, Lisa M Mahanta

Genet Med· July 2016

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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ozge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, Elizabeth Hynes, Ashley L Frisella, Lisa M Mahanta

Mol Genet Genomic Med· March 2016

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The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.
Ashley Blau, Alison Brown, Lisa Mahanta, Sami S Amr

J Pers Med· February 2016

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Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Ahmad N Abou Tayoun, Heather Mason-Suares, Ashley L Frisella, Mark Bowser, Elizabeth Duffy, Lisa Mahanta

Hum Mutat· January 2016

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Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.
Samuel Aronson, Lisa Mahanta, Lei Lei Ros, Eugene Clark, Lawrence Babb

J Pers Med· January 2016

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The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine.
Natalie Boutin, Ana Holzbach, Lisa Mahanta, Jackie Aldama, Xander Cerretani

J Pers Med· January 2016

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Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Diana Mandelker, Sami S Amr, Trevor Pugh, Sivakumar Gowrisankar, Rimma Shakhbatyan, Lisa Mahanta

J Mol Diagn· November 2014

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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Trevor J Pugh, Melissa A Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A Seidman, Lisa M Mahanta

Genet Med· August 2014

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