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Catherine E Cottrell

Showing results (31-40 of 72) with videos related to

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American Journal of Human Genetics|October 5, 2019
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative CohortSamantha N McNulty, Michael J Evenson, Meagan M Corliss, et al.
Cancers|September 9, 2023
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural RearrangementsKathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, et al.
Diagnostic Pathology|January 22, 2026
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelinesJennifer Vazzano Goldstone, Suzanna J Logan, Benjamin J Wilkins, et al.
Frontiers in Oncology|December 17, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care centerAnn M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorderJesse M Hunter, Lauren J Massingham, Kandamurugu Manickam, et al.
Autism Research : Official Journal of the International Society for Autism Research|February 11, 2011
Contactin 4 as an autism susceptibility locusCatherine E Cottrell, Natalie Bir, Elizabeth Varga, et al.
Neuro-Oncology Advances|July 22, 2024
Germline susceptibility from broad genomic profiling of pediatric brain cancersElaine R Mardis, Samara L Potter, Kathleen M Schieffer, et al.
BMC Genomics|January 29, 2024
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexitySaranga Wijeratne, Maria E Hernandez Gonzalez, Kelli Roach, et al.
Scientific Reports|October 25, 2024
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencingMichelle A Wedemeyer, Tianli Ding, Elizabeth A R Garfinkle, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinibAjay Gupta, Jennifer A Belsky, Kathleen M Schieffer, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|October 5, 2019
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative CohortSamantha N McNulty, Michael J Evenson, Meagan M Corliss, et al.
Cancers|September 9, 2023
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural RearrangementsKathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, et al.
Diagnostic Pathology|January 22, 2026
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelinesJennifer Vazzano Goldstone, Suzanna J Logan, Benjamin J Wilkins, et al.
Frontiers in Oncology|December 17, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care centerAnn M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorderJesse M Hunter, Lauren J Massingham, Kandamurugu Manickam, et al.
Autism Research : Official Journal of the International Society for Autism Research|February 11, 2011
Contactin 4 as an autism susceptibility locusCatherine E Cottrell, Natalie Bir, Elizabeth Varga, et al.
Neuro-Oncology Advances|July 22, 2024
Germline susceptibility from broad genomic profiling of pediatric brain cancersElaine R Mardis, Samara L Potter, Kathleen M Schieffer, et al.
BMC Genomics|January 29, 2024
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexitySaranga Wijeratne, Maria E Hernandez Gonzalez, Kelli Roach, et al.
Scientific Reports|October 25, 2024
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencingMichelle A Wedemeyer, Tianli Ding, Elizabeth A R Garfinkle, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinibAjay Gupta, Jennifer A Belsky, Kathleen M Schieffer, et al.
Pageof 8