検索結果 - Sarah Poll

P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening* 著者: Dana Neitzel, Sarah Poll, Sienna Aguilar, Nicole Faulkner, Swaroop Aradhya

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A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data 著者: Mia J. Gruzin, Matthew Hobbs, Sarah Poll, Swaroop Aradhya, Leslie Burnett

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O51: VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes 著者: Yuya Kobayashi, Sarah Poll, Elaine Chen, Dan Swartzlander, Flavia M. Facio, Keith Nykamp

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Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency 著者: Jessica Quinn, Vicki Modell, Britt Johnson, Sarah Poll, Swaroop Aradhya, Jordan S. Orange, Fred Modell

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P493: The 'Goldilocks' panel: Determining the optimal number of genes for reproductive genetic carrier screening 著者: Leslie Burnett, Mia Gruzin, Matthew Hobbs, Sarah Poll, Jaysen Knezovich, Sienna Aguilar, Rachel Ellsworth, Nicole Faulkner, Swaroop Aradhya

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P272: Does sponsored genetic testing for pediatric epilepsy expand access? 著者: Sarah Poll, Yi-Lee Ting, Sonal Bhatia, Edward Cooper, Elaine C. Wirrell, Andrew Silverman, Mitch Bailey, Swaroop Aradhya, Daniel Pineda-Alvarez

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Germline multigene panel testing in acute and chronic pancreatitis. 著者: Mitchell L Ramsey, Brandie Heald, Yevgeniya Gokun, Josie Baker, J Royce Groce, Samuel Han, Phil A Hart, Somashekar G Krishna, Luis F Lara, Peter J Lee, Georgios I Papachristou, Rachel Pearlman, Sarah Poll, Maegan E Roberts, Peter P Stanich

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Germline multigene panel testing in acute and chronic pancreatitis 著者: Mitchell L. Ramsey, Brandie Heald, Yevgeniya Gokun, Josie Baker, J. Royce Groce, Samuel Han, Phil A. Hart, Somashekar G. Krishna, Luis F. Lara, Peter J. Lee, Georgios I. Papachristou, Rachel Pearlman, Sarah Poll, Maegan E. Roberts, Peter P. Stanich

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