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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 9, 2025
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
Avinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 22, 2023
Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma
Shengmei Zhou, Stephen F Sarabia, Dolores Estrine, et al.
American Journal of Clinical Pathology
|
July 28, 2018
Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology
Kent Lewandrowski, Alissa Keegan, Vladislav Makarenko, et al.
The Journal of Molecular Diagnostics : JMD
|
February 15, 2024
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis
Brian Lee, Lily Nasanovsky, Lishuang Shen, et al.
The Journal of Molecular Diagnostics : JMD
|
November 26, 2023
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors
Jonathan Buckley, Ryan J Schmidt, Dejerianne Ostrow, et al.
Genes
|
March 29, 2023
Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry
Zarko Manojlovic, Allyn Auslander, Yuxin Jin, 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.
NPJ Genomic Medicine
|
February 21, 2025
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Elan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, et al.
Neuro-Oncology Advances
|
May 5, 2021
Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults
Jianling Ji, Kristiyana Kaneva, Matthew C Hiemenz, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 13, 2021
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Yan Zhao, Lee-Kai Wang, Ascia Eskin, et al.
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Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 9, 2025
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
Avinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 22, 2023
Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma
Shengmei Zhou, Stephen F Sarabia, Dolores Estrine, et al.
American Journal of Clinical Pathology
|
July 28, 2018
Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology
Kent Lewandrowski, Alissa Keegan, Vladislav Makarenko, et al.
The Journal of Molecular Diagnostics : JMD
|
February 15, 2024
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis
Brian Lee, Lily Nasanovsky, Lishuang Shen, et al.
The Journal of Molecular Diagnostics : JMD
|
November 26, 2023
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors
Jonathan Buckley, Ryan J Schmidt, Dejerianne Ostrow, et al.
Genes
|
March 29, 2023
Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry
Zarko Manojlovic, Allyn Auslander, Yuxin Jin, 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.
NPJ Genomic Medicine
|
February 21, 2025
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Elan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, et al.
Neuro-Oncology Advances
|
May 5, 2021
Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults
Jianling Ji, Kristiyana Kaneva, Matthew C Hiemenz, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 13, 2021
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Yan Zhao, Lee-Kai Wang, Ascia Eskin, et al.
Page
of 5