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Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis.
Al-Diwani A, Theorell J, Damato V, Bull J, McGlashan N, Green E, Kienzler AK, Harrison R, Hassanali T, Campo L, Browne M, Easton A, Soleymani Majd H, Tenaka K, Iorio R, Dale RC, Harrison P, Geddes J, Quested D, Sharp D, Lee ST, Nauen DW, Makuch M, Lennox B, Fowler D, Sheerin F, Waters P, Leite MI, Handel AE, Irani SR. Al-Diwani A, et al. Among authors: fowler d. Brain. 2022 Aug 27;145(8):2742-2754. doi: 10.1093/brain/awac088. Brain. 2022. PMID: 35680425 Free PMC article.
Pulmonary Cystic Echinococcosis in a Child Presenting in the United Kingdom with Fever and Chest Pain: A Brief Report and Discussion on Management.
Lees EA, Ives A, Fowler D, Lakhoo K, Grant D, Kelly D, Paulus S, Segal S, Gilchrist JJ, Kew A, Chiodini P, Kadambari S. Lees EA, et al. Among authors: fowler d. Pediatr Infect Dis J. 2023 Sep 1;42(9):e343-e345. doi: 10.1097/INF.0000000000003968. Epub 2023 May 17. Pediatr Infect Dis J. 2023. PMID: 37200507 Free PMC article.
Consultation informs strategies to improve functional evidence use in variant classification.
Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, Spurdle AB. Villani RM, et al. Among authors: fowler dm. medRxiv [Preprint]. 2024 Dec 6:2024.12.04.24318523. doi: 10.1101/2024.12.04.24318523. medRxiv. 2024. PMID: 39677445 Free PMC article. Preprint.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Among authors: fowler dm. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: fowler dm. Genome Med. 2024 Dec 3;16(1):143. doi: 10.1186/s13073-024-01392-7. Genome Med. 2024. PMID: 39627863 Free PMC article.
Understanding genetic variants in context.
Sinnott-Armstrong N, Fields S, Roth F, Starita LM, Trapnell C, Villen J, Fowler DM, Queitsch C. Sinnott-Armstrong N, et al. Among authors: fowler dm. Elife. 2024 Dec 3;13:e88231. doi: 10.7554/eLife.88231. Elife. 2024. PMID: 39625477 Free PMC article.
1,126 results