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论文共 11 篇作者统计合作学者相似作者

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2328 the Landscape of Peripheral Neuropathy Genetics: when Common Causes Are Not Actually the Cause

Mona Saleh,Jennifer Roggenbuck, Asia Mitchel,Ana Morales, Molly Stetler, Chris Tan, Swaroop Aradhya,Dianalee McKnight,Tom Winder, Edward D Esplin

Abstracts (2022)

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The landscape of peripheral neuropathy genetics: When common causes are not actually the cause

Jennifer Roggenbuck, Asia Mitchel,Ana Morales,Molly Stetler, Chris Tan,Swaroop Aradhya,Dianalee A. McKnight,Tom Winder,Edward Esplin

Genetics in Medicineno. 3 (2022): S74-S75

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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

The Journal of molecular diagnostics/The journal of molecular diagnosticsno. 5 (2021): 589-598

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Asymptomatic Individuals with Family History of Hereditary Transthyretin-Mediated Amyloidosis can be Detected almost Two Decades Earlier Than Symptomatic Probands

Matteo Vatta,Sachin Shah,Tom Winder,Robert Nussbaum,Ana Morales,Sara Bristow,Rebecca Truty,Tom Callis,Ruthvik Malladi,Barry Trachtenberg

JOURNAL OF CARDIAC FAILURE（2020）

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Matteo Vatta,Sachin Shah,Tom Winder,Robert Nussbaum,Ana Morales,Sara Bristow,Rebecca Truty,Tom Callis,Ruthvik Malladi,Barry Trachtenberg

JOURNAL OF CARDIAC FAILURE（2020）

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Sherloc: A Comprehensive Refinement Of The Acmg-Amp Variant Classification Criteria (Vol 74, Pg 258, 2019)

Keith Nykamp,Michael Anderson,Martin Powers,John Garcia,Blanca Herrera,Yuan-Yuan Ho,Yuya Kobayashi,Nila Patil,Janita Thusberg,Marjorie Westbrook,Scott Topper,Sienna Aguilar,Swaroop Aradhya,Daniel Beltran, Brandon Bunker,Amy Daly,Anne Deucher,Tali Ekstein,Ali Entezam, Karl Erhard,Ed Esplin,Jennifer Fulbright, Amy Fuller, Kristen Mcdonald Gibson,Tina Hambuch,Rachel Harte, Christy Hartshorne,Eden Haverfield, Nastaran Heidari,Michelle Hogue, Daniela Iacoboni,Britt Johnson,Hio Chung Kang,Rachel Lewis,Shiloh Martin, Sarah Mccalmon,Scott Michalski, Cindy Morgan,Laura Murillo,Piper Nicolosi,Karen Ouyang,Carolina Pardo,Rita Quintana,Marina Rabideau,Darlene Riethmaier,Amanda Stafford,Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang,Hannah White, Ian Wilson,Tom Winder,Michelle K. Zeman

GENETICS IN MEDICINEno. 1 (2020): 240-240

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Alnylam Act®: Heterogenous Disease Manifestations of Hereditary Transthyretin-Mediated Amyloidosis

Ruthvik Malladi,Rebecca Truty,Tom Winder,Quinn Dinh, Maria Melanson,Sonalee Agarwal

Journal of Cardiac Failure（2019）

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Genetic Testing for Lysosomal Disorders in a Commercial Laboratory: Use of Pathognomonic Criteria in Variant Interpretation

Laura Murillo,Rachel Harte,Stacey Wong,Yuan-Yuan Ho,Daniel Beltran,Michelle Fox,Hannah White,Tom Winder,Britt Johnson

MOLECULAR GENETICS AND METABOLISM（2018）

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Copy Number Variation Analysis by Next-Generation Sequencing Enhances Molecular Diagnostic Yield of Lysosomal Diseases

Stacey A. Wong,Yuan-Yuan Ho,Laura Murillo,Daniel Beltran,Rachel Harte,Hannah White,Michelle Fox,Tom Winder,Britt Johnson

Molecular genetics and metabolism（2018）

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Molecular Diagnostic Findings of Lysosomal Diseases in Children and Adults Suspected to Have Inborn Errors of Metabolism

Yuan-Yuan Ho,Laura Murillo,Daniel Beltran,Rachel Harte,Hannah White,Stacey Wong,Michelle Fox,Tom Winder,Britt Johnson

Molecular genetics and metabolism（2018）

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