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Thaxton, Courtney
58
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Online (58)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (36)
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1
P155: The ClinGen framework for naming monogenic diseases*:
Thaxton, Courtney
;
Biesecker, Leslie
;
DiStefano, Marina
...
Genetics in Medicine Open. 2 (2024) - p. 101052 , 2024
Link:
https://doi.org/10.1016/..
?
2
P150: ClinGen hereditary cardiovascular disease gene curati..:
Waddell, Amber
;
Hespe, Sophie
;
Asatryan, Babken
...
Genetics in Medicine Open. 2 (2024) - p. 101047 , 2024
Link:
https://doi.org/10.1016/..
?
3
Beyond gene-disease validity: capturing structured data on ..:
Josephs, Katherine S.
;
Roberts, Angharad M.
;
Theotokis, Pantazis
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
Developing a disease-specific annotation protocol for VHL g..:
Salehipour, Dena
;
Farncombe, Kirsten M
;
Andric, Veronica
...
Database. 2023 (2023) - p. , 2023
Link:
https://doi.org/10.1093/..
?
5
Variant Classification for Pompe disease; ACMG/AMP specific..:
Goldstein, Jennifer L.
;
McGlaughon, Jennifer
;
Kanavy, Dona
...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107715 , 2023
Link:
https://doi.org/10.1016/..
?
6
Clinical validity assessment of genes frequently tested on ..:
Riggs, Erin Rooney
;
Bingaman, Taylor I.
;
Barry, Carrie-Ann
...
Genetics in Medicine. 24 (2022) 9 - p. 1899-1908 , 2022
Link:
https://doi.org/10.1016/..
?
7
45. Community curation for Von Hippel Lindau disease:
Macpherson, Samantha
;
Ansar, Safa
;
Farncombe, Kirsten
...
Cancer Genetics. 260-261 (2022) - p. 15 , 2022
Link:
https://doi.org/10.1016/..
?
8
Lumping versus splitting: How to approach defining a diseas..:
Thaxton, Courtney
;
Goldstein, Jennifer
;
DiStefano, Marina
...
Cell Genomics. 2 (2022) 5 - p. 100131 , 2022
Link:
https://doi.org/10.1016/..
?
9
Development of a data model and programmatic tooling for an..:
McNulty, Shannon
;
Kanavy, Dona
;
Jairath, Meera
...
Molecular Genetics and Metabolism. 132 (2021) - p. S255 , 2021
Link:
https://doi.org/10.1016/..
?
10
Evidence-Based Assessment of Genes in Dilated Cardiomyopath:
Jordan, Elizabeth
;
Peterson, Laiken
;
Ai, Tomohiko
...
Circulation. 144 (2021) 1 - p. 7-19 , 2021
Link:
https://doi.org/10.1161/..
?
11
International Evidence Based Reappraisal of Genes Associate..:
James, Cynthia A.
;
Jongbloed, Jan D.H.
;
Hershberger, Ray E.
...
Circulation: Genomic and Precision Medicine. 14 (2021) 3 - p. , 2021
Link:
https://doi.org/10.1161/..
?
12
The commercial genetic testing landscape for Parkinson's di..:
Cook, Lola
;
Schulze, Jeanine
;
Verbrugge, Jennifer
...
Parkinsonism & Related Disorders. 92 (2021) - p. 107-111 , 2021
Link:
https://doi.org/10.1016/..
?
13
A myelin-related transcriptomic profile is shared by Pitt–H..:
Phan, BaDoi N.
;
Bohlen, Joseph F.
;
Davis, Brittany A.
...
Nature Neuroscience. 23 (2020) 3 - p. 375-385 , 2020
Link:
https://doi.org/10.1038/..
?
14
Common Pathophysiology in Multiple Mouse Models of Pitt–Hop..:
Thaxton, Courtney
;
Kloth, Alexander D.
;
Clark, Ellen P.
...
The Journal of Neuroscience. 38 (2017) 4 - p. 918-936 , 2017
Link:
https://doi.org/10.1523/..
?
15
Organization and maintenance of molecular domains in myelin..:
Buttermore, Elizabeth D.
;
Thaxton, Courtney L.
;
Bhat, Manzoor A.
Journal of Neuroscience Research. 91 (2013) 5 - p. 603-622 , 2013
Link:
https://doi.org/10.1002/..
1-15