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James D. Metcalf
James D. Metcalf
Spinal muscular atrophy
Medicine
Genetic testing
Computational biology
Biology
6
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7
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New CFTR variant testing standards promote identification of infrequent and novel variants, which may have important therapeutic and fertility implications
2021
Molecular Genetics and Metabolism
Melissa Keinath
Junqing Shen
James D. Metcalf
Thomas W. Prior
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
2020
The Journal of Molecular Diagnostics
Thomas W. Prior
Pinar Bayrak-Toydemir
Ty C. Lynnes
Rong Mao
James D. Metcalf
Kasinathan Muralidharan
Aiko Iwata-Otsubo
Ha T. Pham
Victoria M. Pratt
Shumaila Qureshi
Deborah Requesens
Junqing Shen
Francesco Vetrini
Lisa Kalman
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project.
2020
The Journal of Molecular Diagnostics
Thomas W. Prior
Pinar Bayrak-Toydemir
Ty C. Lynnes
Rong Mao
James D. Metcalf
Kasinathan Muralidharan
Aiko Iwata-Otsubo
Ha T. Pham
Victoria M. Pratt
Shumaila Qureshi
Deborah Requesens
Junqing Shen
Francesco Vetrini
Lisa V. Kalman
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing
2020
The Journal of Molecular Diagnostics
Thomas W. Prior
Pinar Bayrak-Toydemir
Ty C. Lynnes
Rong Mao
James D. Metcalf
Kasinathan Muralidharan
Aiko Iwata-Otsubo
Ha T. Pham
Victoria M. Pratt
Shumaila Qureshi
Deborah Requesens
Junqing Shen
Francesco Vetrini
Lisa Kalman
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The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform
2015
The Journal of Molecular Diagnostics
Kristin K. Deeb
James D. Metcalf
Kaitlin M. Sesock
Junqing Shen
Christine A. Wensel
Larisa I. Rippel
Michelle Smith
Mark S. Chapman
Shulin Na Zhang
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Citations (4)
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