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Jonathan S Berg

Showing results (131-140 of 168) with videos related to

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Schizophrenia Bulletin|December 1, 2022
Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant PsychosisMartilias Farrell, Tyler E Dietterich, Matthew K Harner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingJonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
American Journal of Human Genetics|December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Public Health Genomics|March 27, 2025
Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and PracticeJuhi Salunke, Grace Byfield, Sabrina N Powell, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planningDiane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Pageof 17

Showing results (131-140 of 168) with videos related to

Sort By:
Pageof 17
Schizophrenia Bulletin|December 1, 2022
Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant PsychosisMartilias Farrell, Tyler E Dietterich, Matthew K Harner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingJonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
American Journal of Human Genetics|December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Public Health Genomics|March 27, 2025
Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and PracticeJuhi Salunke, Grace Byfield, Sabrina N Powell, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planningDiane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Pageof 17