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Denise L Perry

Showing results (11-20 of 25) with videos related to

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Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, et al.
Alzheimer'S & Dementia (New York, N. Y.)|March 27, 2020
Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairmentKurt D Christensen, Jason Karlawish, J Scott Roberts, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Genetics in Medicine Open|January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, et al.
Alzheimer'S & Dementia (New York, N. Y.)|March 27, 2020
Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairmentKurt D Christensen, Jason Karlawish, J Scott Roberts, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Genetics in Medicine Open|January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Pageof 3