E-LIB Suche - Ergebnisse für: Harrison, Steven M.

1

Consideration of disease penetrance in the selection of sec..:

Gordon, Adam S. ; Lee, Kristy ; Abul-Husn, Noura S....
Genetics in Medicine. , 2024

2

ClinGen guidance for use of the PP1/BS4 co-segregation and ..:

Biesecker, Leslie G. ; Byrne, Alicia B. ; Harrison, Steven M....
The American Journal of Human Genetics. 111 (2024) 1 - p. 24-38 , 2024

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

3

Genetic sex validation for sample tracking in next-generati..:

Hu, Jianhong ; Korchina, Viktoriya ; Zouk, Hana...
BMC Research Notes. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Clinical interpretation of KCNH2 variants using a robust PS..:

Thomson, Kate L. ; Jiang, Connie ; Richardson, Ebony...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100270 , 2024

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

5

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/..

6

ACMG SF v3.2 list for reporting of secondary findings in cl..:

Miller, David T. ; Lee, Kristy ; Abul-Husn, Noura S....
Genetics in Medicine. 25 (2023) 8 - p. 100866 , 2023

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

7

Using the ACMG/AMP framework to capture evidence related to..:

Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R....
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023

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

8

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1496-1508 , 2023

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

9

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2163-2177 , 2022

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

10

A calibrated functional patch-clamp assay to enhance clinic..:

Jiang, Connie ; Richardson, Ebony ; Farr, Jessica...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1199-1207 , 2022

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

11

Response to McGurk et al:

Gollob, Michael H. ; Hershberger, Ray E. ; Gordon, Adam S....
Genetics in Medicine. 24 (2022) 3 - p. 747-748 , 2022

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

12

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

13

ClinGen Variant Curation Interface: a variant classificatio..:

Preston, Christine G. ; Wright, Matt W. ; Madhavrao, Rao...
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

14

ACMG SF v3.1 list for reporting of secondary findings in cl..:

Miller, David T. ; Lee, Kristy ; Abul-Husn, Noura S....
Genetics in Medicine. 24 (2022) 7 - p. 1407-1414 , 2022

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

15

Low frequency of treatable pediatric disease alleles in gno..:

Gold, Nina B. ; Harrison, Steven M. ; Rowe, Jared H....
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100059 , 2022

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