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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study
Christine Rini, Cynthia M Khan, Elizabeth Moore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2018
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings
Myra I Roche, Ida Griesemer, Cynthia M Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2024
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, et al.
The Journal of Molecular Diagnostics : JMD
|
October 3, 2022
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity
Anthony R Miller, Saranga Wijeratne, Sean D McGrath, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2023
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genes, Chromosomes & Cancer
|
July 8, 2022
EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors
Selene C Koo, Kathleen M Schieffer, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2022
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Rheumatology (Oxford, England)
|
April 12, 2022
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant
Kelsey Lecerf, Daniel C Koboldt, Hye Sun Kuehn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Human Mutation
|
October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Michael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
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Search research articles
Search
Showing results (51-60 of 90) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study
Christine Rini, Cynthia M Khan, Elizabeth Moore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2018
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings
Myra I Roche, Ida Griesemer, Cynthia M Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2024
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, et al.
The Journal of Molecular Diagnostics : JMD
|
October 3, 2022
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity
Anthony R Miller, Saranga Wijeratne, Sean D McGrath, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2023
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genes, Chromosomes & Cancer
|
July 8, 2022
EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors
Selene C Koo, Kathleen M Schieffer, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2022
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Rheumatology (Oxford, England)
|
April 12, 2022
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant
Kelsey Lecerf, Daniel C Koboldt, Hye Sun Kuehn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Human Mutation
|
October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Michael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
Page
of 9