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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2268, doi. 10.1002/acn3.52127
By:
- Mohan, Shruthi;
- McNulty, Shannon;
- Thaxton, Courtney;
- Elnagheeb, Marwa;
- Owens, Emma;
- Flowers, May;
- Nunnery, Teagan;
- Self, Autumn;
- Palus, Brooke;
- Gorokhova, Svetlana;
- Kennedy, April;
- Niu, Zhiyv;
- Johari, Mridul;
- Maiga, Alassane Baneye;
- Macalalad, Kelly;
- Clause, Amanda R.;
- Beckmann, Jacques S.;
- Bronicki, Lucas;
- Cooper, Sandra T.;
- Ganesh, Vijay S.
Publication type:
Article
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01246-8
By:
- Josephs, Katherine S.;
- Roberts, Angharad M.;
- Theotokis, Pantazis;
- Walsh, Roddy;
- Ostrowski, Philip J.;
- Edwards, Matthew;
- Fleming, Andrew;
- Thaxton, Courtney;
- Roberts, Jason D.;
- Care, Melanie;
- Zareba, Wojciech;
- Adler, Arnon;
- Sturm, Amy C.;
- Tadros, Rafik;
- Novelli, Valeria;
- Owens, Emma;
- Bronicki, Lucas;
- Jarinova, Olga;
- Callewaert, Bert;
- Peters, Stacey
Publication type:
Article
Organization and maintenance of molecular domains in myelinated axons.
Published in:
Journal of Neuroscience Research, 2013, v. 91, n. 5, p. 603, doi. 10.1002/jnr.23197
By:
- Buttermore, Elizabeth D.;
- Thaxton, Courtney L.;
- Bhat, Manzoor A.
Publication type:
Article
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Published in:
Database: The Journal of Biological Databases & Curation, 2023, v. 2023, p. 1, doi. 10.1093/database/baac109
By:
- Salehipour, Dena;
- Farncombe, Kirsten M;
- Andric, Veronica;
- Ansar, Safa;
- Delong, Sean;
- Li, Eric;
- Macpherson, Samantha;
- Ridd, Sarah;
- Ritter, Deborah I;
- Thaxton, Courtney;
- Kim, Raymond H
Publication type:
Article
In Vivo Deletion of Immunoglobulin Domains 5 and 6 in Neurofascin (Nfasc) Reveals Domain-Specific Requirements in Myelinated Axons.
Published in:
Journal of Neuroscience, 2010, v. 30, n. 14, p. 4868, doi. 10.1523/JNEUROSCI.5951-09.2010
By:
- Thaxton, Courtney;
- Pillai, Anilkumar M.;
- Pribisko, Alaine L.;
- Labasque, Marilyne;
- Dupree, Jeffrey L.;
- Faivre-Sarrailh, Catherine;
- Bhat, Manzoor A.
Publication type:
Article
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
Published in:
Journal of Neuroscience, 2018, v. 38, n. 4, p. 918, doi. 10.1523/JNEUROSCI.1305-17.2017
By:
- Thaxton, Courtney;
- Kloth, Alexander D.;
- Clark, Ellen P.;
- Philpot, Benjamin D.;
- Moy, Sheryl S.;
- Chitwood, Raymond A.
Publication type:
Article
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.
Published in:
Journal of Neuroscience, 2017, v. 37, n. 31, p. 7347, doi. 10.1523/JNEUROSCI.0037-17.2017
By:
- Judson, Matthew C.;
- Burette, Alain C.;
- Thaxton, Courtney L.;
- Pribisko, Alaine L.;
- Shen, Mark D.;
- Rumple, Ashley M.;
- Del Cid, Wilmer A.;
- Paniagua, Beatriz;
- Styner, Martin;
- Weinberg, Richard J.;
- Philpot, Benjamin D.
Publication type:
Article
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1031, doi. 10.1002/humu.24291
By:
- Thaxton, Courtney;
- Good, Molly E.;
- DiStefano, Marina T.;
- Luo, Xi;
- Andersen, Erica F.;
- Thorland, Erik;
- Berg, Jonathan;
- Martin, Christa Lese;
- Rehm, Heidi L.;
- Riggs, Erin R.
Publication type:
Article
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632
By:
- Helbig, Ingo;
- Riggs, Erin Rooney;
- Barry, Carrie‐Anne;
- Klein, Karl Martin;
- Dyment, David;
- Thaxton, Courtney;
- Sadikovic, Bekim;
- Sands, Tristan T.;
- Wagnon, Jacy L.;
- Liaquat, Khalida;
- Cilio, Maria Roberta;
- Mirzaa, Ghayda;
- Park, Kristen;
- Axeen, Erika;
- Butler, Elizabeth;
- Bardakjian, Tanya M.;
- Striano, Pasquale;
- Poduri, Annapurna;
- Siegert, Rebecca K.;
- Grant, Andrew R.
Publication type:
Article
The progression of the ClinGen gene clinical validity classification over time.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1494, doi. 10.1002/humu.23604
By:
- McGlaughon, Jennifer L.;
- Goldstein, Jennifer L.;
- Thaxton, Courtney;
- Hemphill, Sarah E.;
- Berg, Jonathan S.
Publication type:
Article
2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel.
Published in:
Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-2264-PUB
By:
- POLLIN, TONI I.;
- MAYERS, MEGAN A.;
- GREELEY, SIRI ATMA W.;
- MALONEY, KRISTIN A.;
- NAYLOR, ROCHELLE N.;
- PAKYZ, RUTH E.;
- PATEL, KASHYAP A.;
- UDLER, MIRIAM;
- ZHANG, HAICHEN;
- COLCLOUGH, KEVIN;
- THAXTON, COURTNEY
Publication type:
Article

Found: 11