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Lisa M. Vincent

GeneDx

16

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688

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Effect of a Neoprene Knee Sleeve on Performance and Muscle Activity in Men and Women During High-Intensity, High-Volume Resistance Training.

2021 Journal of Strength and Conditioning Research
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

2019 Genetics in Medicine
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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

2018 Genetics in Medicine
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78: Multi-gene NGS panel yields high diagnostic rate of skeletal dysplasias detected by fetal ultrasound

2018 American Journal of Obstetrics and Gynecology
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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

2018 Human Mutation
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

2018 Human Mutation
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Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

2018
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7 -associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

2018 Genetics in Medicine
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Noonan syndrome in diverse populations

2017 American Journal of Medical Genetics Part A
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

2017 Genetics in Medicine
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Citations (143)