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Christopher A Tan

Showing results (11-20 of 16) with videos related to

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Journal of the Peripheral Nervous System : JPNS|August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathyJennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Human Genetics|April 23, 2025
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inferenceToby R Manders, Christopher A Tan, Yuya Kobayashi, et al.
Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Human Genetics|July 31, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationSamskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Journal of the Peripheral Nervous System : JPNS|August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathyJennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Human Genetics|April 23, 2025
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inferenceToby R Manders, Christopher A Tan, Yuya Kobayashi, et al.
Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Human Genetics|July 31, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationSamskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Pageof 2