E-LIB Suche - Ergebnisse für: Johnson, Britt

1

O31: The landscape of variant reclassification: Learnings f..:

Johnson, Britt ; Kobayashi, Yuya ; Chen, Elaine...
Genetics in Medicine Open. 2 (2024) - p. 101472 , 2024

Link: https://doi.org/10.1016/..

2

54 Real-World Evaluation of Healthcare Utilization in Patie..:

Rider, Nicholas ; Platt, Craig ; Ting, Yi-Lee...
Clinical Immunology. 262 (2024) - p. 109996 , 2024

Link: https://doi.org/10.1016/..

3

95 Patterns and presentations of mosaic variation in monoge..:

Zhang, Jade ; Gray, Paul ; Ting, Yi-Lee...
Clinical Immunology. 262 (2024) - p. 110037 , 2024

Link: https://doi.org/10.1016/..

4

P685: Assessing the variant landscape in patients: An emerg..:

Tan, Christopher ; Ouyang, Karen ; O'Neill, Audrey..
Genetics in Medicine Open. 2 (2024) - p. 101589 , 2024

Link: https://doi.org/10.1016/..

5

P071: Utility of RNA analysis in genetic testing for heredi..:

Hamilton, Sarah ; Fosler, Lindsay ; Pineda-Alvarez, Daniel..
Genetics in Medicine Open. 2 (2024) - p. 100953 , 2024

Link: https://doi.org/10.1016/..

6

P067: A descriptive study of the phenotype in individuals w..:

Fosler, Lindsay ; Heald, Brandie ; Chen, Elaine.
Genetics in Medicine Open. 2 (2024) - p. 100949 , 2024

Link: https://doi.org/10.1016/..

7

PO-01-182 TRACKING UNCERTAINTY IN GERMLINE GENETIC TESTING ..:

Ting, Yi-Lee ; Chen, Elaine ; Facio, Flavia M....
Heart Rhythm. 21 (2024) 5 - p. S176-S177 , 2024

Link: https://doi.org/10.1016/..

8

P164: Scalable Bayesian variant interpretation of Lynch syn..:

Manders, Toby ; Kobayashi, Yuya ; Wahl, Alex...
Genetics in Medicine Open. 2 (2024) - p. 101061 , 2024

Link: https://doi.org/10.1016/..

9

41 Specifications of ACMG/AMP Variant Curation Guidelines f..:

Ross, Justyne ; McLean, Benjamin ; Leon-Lozano, Grace...
Clinical Immunology. 262 (2024) - p. 109983 , 2024

Link: https://doi.org/10.1016/..

10

18 Tracking Uncertainty in Germline Genetic Testing for Inb..:

Ting, Yi-Lee ; Chen, Elaine ; Facio, Flavia...
Clinical Immunology. 262 (2024) - p. 109960 , 2024

Link: https://doi.org/10.1016/..

11

P073: Novel high-throughput functional models for MLH1, MSH..:

Stafford, David ; Reuter, Jason ; Padigepati, Samskruthi...
Genetics in Medicine Open. 2 (2024) - p. 100955 , 2024

Link: https://doi.org/10.1016/..

12

P244: Developing Bayesian graphical models to provide conti..:

Manders, Toby ; Kobayashi, Yuya ; Nicoludis, John...
Genetics in Medicine Open. 1 (2023) 1 - p. 100272 , 2023

Link: https://doi.org/10.1016/..

13

The impact of machine learning models in reducing variants ..:

Johnson, Britt ; Morales, Ana ; Facio, Flavia...
Clinical Immunology. 250 (2023) - p. 109469 , 2023

Link: https://doi.org/10.1016/..

14

Cover Image, Volume 193, Number 3, September 2023:

Aradhya, Swaroop ; Facio, Flavia M. ; Metz, Hillery...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..

15

P277: Modeling cellular evidence: Scalable approaches for g..:

Reuter, Jason ; Kobayashi, Yuya ; Facio, Flavia...
Genetics in Medicine Open. 1 (2023) 1 - p. 100305 , 2023

Link: https://doi.org/10.1016/..