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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 26, 2025
ACMG SF v3.3 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)
Kristy Lee, Noura S Abul-Husn, Laura M Amendola, et al.
The Journal of Molecular Diagnostics : JMD
|
June 19, 2022
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
Mariam T Mathew, Austin Antoniou, Naveen Ramesh, et al.
American Journal of Hematology
|
March 18, 2014
Genetic polymorphisms in oxidative stress-related genes are associated with outcomes following treatment for aggressive B-cell non-Hodgkin lymphoma
Heather L Gustafson, Song Yao, Bryan H Goldman, et al.
Cold Spring Harbor Molecular Case Studies
|
May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Adam S Gordon, et al.
Cold Spring Harbor Molecular Case Studies
|
February 12, 2022
Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication
Esko A Kautto, Kathleen M Schieffer, Sean McGrath, et al.
Blood Advances
|
January 26, 2021
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
Justyne E Ross, Bing M Zhang, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Correction to: ACMG SF v3.0 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, Wendy K Chung, et al.
Oncotarget
|
March 13, 2015
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome
Sebastian Ribi, Daniel Baumhoer, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
ACMG SF v3.0 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, Wendy K Chung, et al.
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Search research articles
Search
Showing results (61-70 of 90) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 26, 2025
ACMG SF v3.3 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)
Kristy Lee, Noura S Abul-Husn, Laura M Amendola, et al.
The Journal of Molecular Diagnostics : JMD
|
June 19, 2022
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
Mariam T Mathew, Austin Antoniou, Naveen Ramesh, et al.
American Journal of Hematology
|
March 18, 2014
Genetic polymorphisms in oxidative stress-related genes are associated with outcomes following treatment for aggressive B-cell non-Hodgkin lymphoma
Heather L Gustafson, Song Yao, Bryan H Goldman, et al.
Cold Spring Harbor Molecular Case Studies
|
May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T Miller, Kristy Lee, Adam S Gordon, et al.
Cold Spring Harbor Molecular Case Studies
|
February 12, 2022
Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication
Esko A Kautto, Kathleen M Schieffer, Sean McGrath, et al.
Blood Advances
|
January 26, 2021
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
Justyne E Ross, Bing M Zhang, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Correction to: ACMG SF v3.0 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, Wendy K Chung, et al.
Oncotarget
|
March 13, 2015
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome
Sebastian Ribi, Daniel Baumhoer, Kristy Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
ACMG SF v3.0 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, Wendy K Chung, et al.
Page
of 9