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Ada J S Chan

Showing results (1-10 of 12) with videos related to

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G3 (Bethesda, Md.)|February 14, 2018
Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated HotspotsMohammed Uddin, Marc Woodbury-Smith, Ada J S Chan, et al.
NPJ Genomic Medicine|May 3, 2019
Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variantsAda J S Chan, Cheryl Cytrynbaum, Ny Hoang, et al.
Autism Research : Official Journal of the International Society for Autism Research|November 8, 2019
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian CohortEduarda Morgana da Silva Montenegro, Claudia Samogy Costa, Gabriele Campos, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
European Journal of Human Genetics : EJHG|June 6, 2023
Three generation families: Analysis of de novo variants in autismClaudia I Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
Hemasphere|November 27, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemiaHaley Newman, Derek Wong, Jinhua Wu, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
G3 (Bethesda, Md.)|February 14, 2018
Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated HotspotsMohammed Uddin, Marc Woodbury-Smith, Ada J S Chan, et al.
NPJ Genomic Medicine|May 3, 2019
Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variantsAda J S Chan, Cheryl Cytrynbaum, Ny Hoang, et al.
Autism Research : Official Journal of the International Society for Autism Research|November 8, 2019
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian CohortEduarda Morgana da Silva Montenegro, Claudia Samogy Costa, Gabriele Campos, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
European Journal of Human Genetics : EJHG|June 6, 2023
Three generation families: Analysis of de novo variants in autismClaudia I Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
Hemasphere|November 27, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemiaHaley Newman, Derek Wong, Jinhua Wu, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Pageof 2