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Christa L Martin

Showing results (21-30 of 68) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarrayErin L Baldwin, Ji-Yun Lee, Douglas M Blake, et al.
G3 (Bethesda, Md.)|May 14, 2013
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgroundsZhenya Tang, Dorit S Berlin, Lorraine Toji, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVarDanielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Journal of Medical Genetics|October 26, 2010
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityAndres Moreno-De-Luca, Sandra L Helmers, Hui Mao, et al.
JACC. Cardiooncology|November 8, 2021
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health RecordsBrendan J Carry, Katelyn Young, Samuel Fielden, et al.
Biological Psychiatry|October 18, 2024
Advancing Mental Health Research Through Strategic Integration of Transdiagnostic Dimensions and GenomicsAlysa E Doyle, Carrie E Bearden, Raquel E Gur, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Human Molecular Genetics|May 24, 2007
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei Nishimura, Christa L Martin, Araceli Vazquez-Lopez, et al.
Medrxiv : the Preprint Server for Health Sciences|February 27, 2026
Shared and distinct phenotypic profiles among neurodevelopmental disorder genesHermela Shimelis, Matthew T Oetjens, Bobbi McGivern, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarrayErin L Baldwin, Ji-Yun Lee, Douglas M Blake, et al.
G3 (Bethesda, Md.)|May 14, 2013
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgroundsZhenya Tang, Dorit S Berlin, Lorraine Toji, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVarDanielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Journal of Medical Genetics|October 26, 2010
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityAndres Moreno-De-Luca, Sandra L Helmers, Hui Mao, et al.
JACC. Cardiooncology|November 8, 2021
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health RecordsBrendan J Carry, Katelyn Young, Samuel Fielden, et al.
Biological Psychiatry|October 18, 2024
Advancing Mental Health Research Through Strategic Integration of Transdiagnostic Dimensions and GenomicsAlysa E Doyle, Carrie E Bearden, Raquel E Gur, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Human Molecular Genetics|May 24, 2007
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei Nishimura, Christa L Martin, Araceli Vazquez-Lopez, et al.
Medrxiv : the Preprint Server for Health Sciences|February 27, 2026
Shared and distinct phenotypic profiles among neurodevelopmental disorder genesHermela Shimelis, Matthew T Oetjens, Bobbi McGivern, et al.
Pageof 7