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Carrie Hanscom

Showing results (1-10 of 17) with videos related to

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American Journal of Human Genetics|December 24, 2019
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male InfertilitySamantha L P Schilit, Shreya Menon, Corinna Friedrich, et al.
American Journal of Human Genetics|April 9, 2011
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic researchMichael E Talkowski, Carl Ernst, Adrian Heilbut, et al.
American Journal of Human Genetics|June 23, 2015
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationHarrison Brand, Ryan L Collins, Carrie Hanscom, et al.
The New England Journal of Medicine|December 11, 2012
Clinical diagnosis by whole-genome sequencing of a prenatal sampleMichael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, et al.
Scientific Reports|January 26, 2017
Potential molecular consequences of transgene integration: The R6/2 mouse exampleJessie C Jacobsen, Serkan Erdin, Colby Chiang, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
American Journal of Human Genetics|October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disordersHarrison Brand, Vamsee Pillalamarri, Ryan L Collins, et al.
American Journal of Human Genetics|October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisZehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Nature Genetics|March 6, 2012
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationColby Chiang, Jessie C Jacobsen, Carl Ernst, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
American Journal of Human Genetics|December 24, 2019
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male InfertilitySamantha L P Schilit, Shreya Menon, Corinna Friedrich, et al.
American Journal of Human Genetics|April 9, 2011
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic researchMichael E Talkowski, Carl Ernst, Adrian Heilbut, et al.
American Journal of Human Genetics|June 23, 2015
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationHarrison Brand, Ryan L Collins, Carrie Hanscom, et al.
The New England Journal of Medicine|December 11, 2012
Clinical diagnosis by whole-genome sequencing of a prenatal sampleMichael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, et al.
Scientific Reports|January 26, 2017
Potential molecular consequences of transgene integration: The R6/2 mouse exampleJessie C Jacobsen, Serkan Erdin, Colby Chiang, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
American Journal of Human Genetics|October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disordersHarrison Brand, Vamsee Pillalamarri, Ryan L Collins, et al.
American Journal of Human Genetics|October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisZehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Nature Genetics|March 6, 2012
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationColby Chiang, Jessie C Jacobsen, Carl Ernst, et al.
Pageof 2