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Harrison, Steven M.
13418
results:
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1
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/..
?
2
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/..
?
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/..
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4
Consideration of disease penetrance in the selection of sec..:
Gordon, Adam S.
;
Lee, Kristy
;
Abul-Husn, Noura S.
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
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9
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/..
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10
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/..
?
11
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/..
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12
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/..
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13
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/..
?
14
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/..
?
15
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/..
1-15