E-LIB Suche - Ergebnisse für: Chao, Elizabeth C.

1

The landscape of reported VUS in multi-gene panel and genom..:

Rehm, Heidi L. ; Alaimo, Joseph T. ; Aradhya, Swaroop...
Genetics in Medicine. 25 (2023) 12 - p. 100947 , 2023

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

2

Specifications of the ACMG/AMP Variant Classification Guide..:

Hatton, Jessica N. ; Frone, Megan N. ; Cox, Hannah C....
Human Mutation. 2023 (2023) - p. 1-15 , 2023

Link: https://doi.org/10.1155/..

3

Mutational and splicing landscape in a cohort of 43,000 pat..:

Horton, Carolyn ; Cass, Ashley ; Conner, Blair R....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

4

Incidental detection of acquired variants in germline genet..:

Chao, Elizabeth C. ; Astbury, Caroline ; Deignan, Joshua L....
Genetics in Medicine. 23 (2021) 7 - p. 1179-1184 , 2021

Link: https://doi.org/10.1038/..

5

A clinical guide to hereditary cancer panel testing: evalua..:

LaDuca, Holly ; Polley, Eric C. ; Yussuf, Amal...
Genetics in Medicine. 22 (2020) 2 - p. 407-415 , 2020

Link: https://doi.org/10.1038/..

6

Racial and Ethnic Differences in Multigene Hereditary Cance..:

Yadav, Siddhartha ; LaDuca, Holly ; Polley, Eric C...
JNCI: Journal of the National Cancer Institute. 113 (2020) 10 - p. 1429-1433 , 2020

Link: https://doi.org/10.1093/..

7

Classification of variants of uncertain significance in BRC..:

Li, Hongyan ; LaDuca, Holly ; Pesaran, Tina...
Genetics in Medicine. 22 (2020) 4 - p. 701-708 , 2020

Link: https://doi.org/10.1038/..

8

Splice-Break: exploiting an RNA-seq splice junction algorit..:

Hjelm, Brooke E ; Rollins, Brandi ; Morgan, Ling...
Nucleic Acids Research. 47 (2019) 10 - p. e59-e59 , 2019

Link: https://doi.org/10.1093/..

9

Misattributed parentage as an unanticipated finding during ..:

Eno, Celeste ; Bayrak-Toydemir, Pinar ; Bean, Lora...
Genetics in Medicine. 21 (2019) 4 - p. 861-866 , 2019

Link: https://doi.org/10.1038/..

10

Women with breast and uterine cancer are more likely to har..:

Fulk, Kelly ; Milam, Michael R. ; Li, Shuwei...
Gynecologic Oncology. 152 (2019) 3 - p. 612-617 , 2019

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

11

REVEL and BayesDel outperform other in silico meta-predicto..:

Tian, Yuan ; Pesaran, Tina ; Chamberlin, Adam...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

12

Points to consider in the reevaluation and reanalysis of ge..:

Deignan, Joshua L. ; Chung, Wendy K. ; Kearney, Hutton M....
Genetics in Medicine. 21 (2019) 6 - p. 1267-1270 , 2019

Link: https://doi.org/10.1038/..

13

Correction: Candidate-gene criteria for clinical reporting:..:

Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron...
Genetics in Medicine. 20 (2018) 9 - p. 1099-1102 , 2018

Link: https://doi.org/10.1038/..

14

Differences in TP53 Mutation Carrier Phenotypes Emerge From..:

Rana, Huma Q ; Gelman, Rebecca ; LaDuca, Holly...
JNCI: Journal of the National Cancer Institute. 110 (2018) 8 - p. 863-870 , 2018

Link: https://doi.org/10.1093/..

15

Somatic TP53 variants frequently confound germ-line testing..:

Weitzel, Jeffrey N. ; Chao, Elizabeth C. ; Nehoray, Bita...
Genetics in Medicine. 20 (2018) 8 - p. 809-816 , 2018

Link: https://doi.org/10.1038/..