Colin Young - Department of Chemical Engineering, University of Utah

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论文共 17 篇作者统计合作学者相似作者

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Solving Missing Heritability in Patients with Familial Adenomatous Polyposis with DNA-RNA Paired Testing

Colin C. Young,Carolyn Horton,Jessica Grzybowski,Nelly Abualkheir, Jesus Ramirez Castano,Bhuvan Molparia,Rachid Karam,Elizabeth Chao,Marcy E. Richardson

JCO Precision Oncology (2024)

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Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

Carolyn Horton,Lily Hoang,Heather Zimmermann,Colin Young,Jessica Grzybowski,Kate Durda,Huy Vuong,David Burks,Ashley Cass,Holly Laduca,Marcy E. Richardson,Steven Harrison,Elizabeth C. Chao,Rachid Karam

JAMA oncologyno. 2 (2024): 212-219

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P074: Characterization of Complex Hereditary Cancer Associated Germline Variants with Long Read Sequencing

Sami Belhadj,Felicia Hernandez,Terra Brannan,Colin Young, Jesus Ramirez Castano,Cassidy Carraway,Jessica Grzybowski,Carolyn Horton,Marcy Richardson,Rachid Karam

Genetics in Medicine Open (2024): 100956

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Cancer Burden in Individuals with Single Versus Double Pathogenic Variants in Cancer Susceptibility Genes

Nihat B. Agaoglu,Brittany L. Bychkovsky,Carolyn Horton,Min-Tzu Lo, Linda Polfus,Cassidy Carraway,Parichehr Hemyari,Colin Young,Marcy E. Richardson,Rochelle Scheib,Judy E. Garber,Huma Q. Rana

Genetics in Medicine Openpp.101829, (2024)

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Functional Analysis and Clinical Classification of 462 Germline BRCA2 Missense Variants Affecting the DNA Binding Domain

Chunling Hu,Huaizhi Huang,Jie Na, Carolyn Lumby,Mohamed Abozaid,Megan A. Holdren,Tara J. Rao,Rachid Karam,Tina Pesaran, Jamie D. Weyandt, Christen M. Csuy,Christina A. Seelaus,Colin C. Young,Kelly Fulk, Zahra Heidari,Paulo Cilas Morais Lyra Jr,Ronan E. Couch, Benjamin Persons,Eric C. Polley,Rohan D. Gnanaolivu,Nicholas J. Boddicker,Alvaro N. A. Monteiro,Siddhartha Yadav,Susan M. Domchek,Marcy E. Richardson,Fergus J. Couch

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Specifications of the ACMG/AMP Variant Curation Guidelines for the Analysis of Germline ATM Sequence Variants

medRxiv the preprint server for health sciences (2024)

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P061: ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Megan Holdren,Marcy Richardson,Deborah Ritter,Colin Young,Terra Brannan,Tina Pesaran,Lauren Zec,Susan Hiraki,Michael Anderson,Melissa Southey,Clare Turnbull,Marc Tischkowitz,Huma Rana, Shannon McNulty Gray,Sean Tavtigian,Logan Walker,William Foulkes,Alvaro Monteiro,Sarah Brnich,Melissa Cline

Genetics in medicine openno. 1 (2023): 100080-100080

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P644: Can Computational Tools Generate Greater Than ACMG Supporting Evidence? A Circularity-Free Analysis Using ATM, CHEK2, and Breast Cancer Case-Control Data

Julie Boyle,Siqi Hu, Scott Pew,Colin Young,Bing-Jian Feng,Colin Mackenzie,Mia Hashibe,Sean Tavtigian

Genetics in Medicine Openno. 1 (2023): 100709-100709

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P545: A Plot Twist: when RNA Evidence Challenges Our Expectations of DNA Results

Alexandra Richardson,Terra Brannan,Colin Young,Jessica Grzybowski,Marcy Richardson,Carolyn Horton,Rachid Karam,Heather Zimmermann

Genetics in Medicine Openno. 1 (2023): 100592-100592

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Double Jeopardy? A Closer Look at Cancer Histories of Individuals with Multiple Germline Pathogenic Variants

Carolyn Horton,Min-Tzu Lo,Amal Yussuf,Colin Young,Cassidy Carraway,Nihat Bugra Agaoglu,Brittany L. Bychkovsky,Huma Q. Rana

JOURNAL OF CLINICAL ONCOLOGY（2022）

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