Bibliotecas PUC-SP - Busca Integrada

P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening*

Por Dana Neitzel, Sarah Poll, Sienna Aguilar, Nicole Faulkner, Swaroop Aradhya
Publicado no Genetics in Medicine Open (2024-01-01)

A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data

Por Mia J. Gruzin, Matthew Hobbs, Sarah Poll, Swaroop Aradhya, Leslie Burnett
Publicado no Data in Brief (2025-08-01)

O51: VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes

Por Yuya Kobayashi, Sarah Poll, Elaine Chen, Dan Swartzlander, Flavia M. Facio, Keith Nykamp
Publicado no Genetics in Medicine Open (2025-01-01)

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Por Jessica Quinn, Vicki Modell, Britt Johnson, Sarah Poll, Swaroop Aradhya, Jordan S. Orange, Fred Modell
Publicado no Frontiers in Immunology (2022-06-01)

P493: The 'Goldilocks' panel: Determining the optimal number of genes for reproductive genetic carrier screening

Por Leslie Burnett, Mia Gruzin, Matthew Hobbs, Sarah Poll, Jaysen Knezovich, Sienna Aguilar, Rachel Ellsworth, Nicole Faulkner, Swaroop Aradhya
Publicado no Genetics in Medicine Open (2024-01-01)

P272: Does sponsored genetic testing for pediatric epilepsy expand access?

Por Sarah Poll, Yi-Lee Ting, Sonal Bhatia, Edward Cooper, Elaine C. Wirrell, Andrew Silverman, Mitch Bailey, Swaroop Aradhya, Daniel Pineda-Alvarez
Publicado no Genetics in Medicine Open (2025-01-01)

Germline multigene panel testing in acute and chronic pancreatitis

Por 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
Publicado no PLoS ONE (2024-01-01)

Germline multigene panel testing in acute and chronic pancreatitis.

Por 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
Publicado no PLoS ONE (2024-01-01)