Publications by authors named "Sarah Topol"

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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Sarah Topol

Brain· October 2022

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Emergence of an early SARS-CoV-2 epidemic in the United States.
Mark Zeller, Karthik Gangavarapu, Catelyn Anderson, Allison R Smither, John A Vanchiere, Sarah Topol

Cell· September 2021

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Emergence of an early SARS-CoV-2 epidemic in the United States.
Mark Zeller, Karthik Gangavarapu, Catelyn Anderson, Allison R Smither, John A Vanchiere, Sarah Topol

medRxiv· February 2021

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Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Elias L Salfati, Emily G Spencer, Sarah E Topol, Evan D Muse, Manuel Rueda, Eric J Topol

Genome Med· December 2019

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Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
David Pacheu-Grau, Sylvie Callegari, Sonia Emperador, Kyle Thompson, Abhishek Aich, Sarah E Topol

Hum Mol Genet· December 2018

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Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Eric J Topol

Front Cardiovasc Med· January 2018

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Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Eric J Topol

Front Cardiovasc Med· November 2017

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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Marilyn C Jones, Sarah E Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips

Genet Med· October 2017

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Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Debra L Boeldt, Cynthia Cheung, Lauren Ariniello, Burcu F Darst, Sarah Topol

Per Med· January 2017

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Whole-Genome Sequencing of a Healthy Aging Cohort.
Galina A Erikson, Dale L Bodian, Manuel Rueda, Bhuvan Molparia, Erick R Scott, Sarah E Topol, Eric J Topol

Cell· May 2016

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A genome sequencing program for novel undiagnosed diseases.
Cinnamon S Bloss, Ashley A Scott-Van Zeeland, Sarah E Topol, Burcu F Darst, Debra L Boeldt, Eric J Topol

Genet Med· December 2015

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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ying-Zhang Chen, Jennifer R Friedman, Dong-Hui Chen, Guy C-K Chan, Cinnamon S Bloss, Sarah E Topol, Eric J Topol

Ann Neurol· April 2014

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Fluid phase biopsy for detection and characterization of circulating endothelial cells in myocardial infarction.
Kelly Bethel, Madelyn S Luttgen, Samir Damani, Anand Kolatkar, Rachelle Lamy, Sarah Topol, Eric J Topol

Phys Biol· February 2014

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Comparison of 24-hour Holter monitoring with 14-day novel adhesive patch electrocardiographic monitoring.
Paddy M Barrett, Ravi Komatireddy, Sharon Haaser, Sarah Topol, Judith Sheard, Eric J Topol

Am J Med· January 2014

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Characterization of circulating endothelial cells in acute myocardial infarction.
Samir Damani, Andrea Bacconi, Ondrej Libiger, Aparajita H Chourasia, Rod Serry, Sarah Topol, Eric J Topol

Sci Transl Med· March 2012

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Mutation of MEF2A in an inherited disorder with features of coronary artery disease.
Lejin Wang, Chun Fan, Sarah E Topol, Eric J Topol, Qing Wang

Science· November 2003

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