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Page 1
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: schnekenberg rp. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Facchini S, Dominik N, Manini A, Efthymiou S, Currò R, Rugginini B, Vegezzi E, Quartesan I, Perrone B, Kutty SK, Galassi Deforie V, Schnekenberg RP, Abati E, Pichiecchio A, Valente EM, Tassorelli C, Reilly MM, Houlden H, Bugiardini E, Cortese A. Facchini S, et al. Among authors: schnekenberg rp. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
Author Correction: Spatial and temporal fluctuations in COVID-19 fatality rates in Brazilian hospitals.
Brizzi A, Whittaker C, Servo LMS, Hawryluk I, Prete CA Jr, de Souza WM, Aguiar RS, Araujo LJT, Bastos LS, Blenkinsop A, Buss LF, Candido D, Castro MC, Costa SF, Croda J, de Souza Santos AA, Dye C, Flaxman S, Fonseca PLC, Geddes VEV, Gutierrez B, Lemey P, Levin AS, Mellan T, Bonfim DM, Miscouridou X, Mishra S, Monod M, Moreira FRR, Nelson B, Pereira RHM, Ranzani O, Schnekenberg RP, Semenova E, Sonabend R, Souza RP, Xi X, Sabino EC, Faria NR, Bhatt S, Ratmann O. Brizzi A, et al. Among authors: schnekenberg rp. Nat Med. 2022 Jul;28(7):1509. doi: 10.1038/s41591-022-01939-4. Nat Med. 2022. PMID: 35835884 Free PMC article. No abstract available.
Estimating the COVID-19 infection fatality ratio accounting for seroreversion using statistical modelling.
Brazeau NF, Verity R, Jenks S, Fu H, Whittaker C, Winskill P, Dorigatti I, Walker PGT, Riley S, Schnekenberg RP, Hoeltgebaum H, Mellan TA, Mishra S, Unwin HJT, Watson OJ, Cucunubá ZM, Baguelin M, Whittles L, Bhatt S, Ghani AC, Ferguson NM, Okell LC. Brazeau NF, et al. Among authors: schnekenberg rp. Commun Med (Lond). 2022 May 19;2:54. doi: 10.1038/s43856-022-00106-7. eCollection 2022. Commun Med (Lond). 2022. PMID: 35603270 Free PMC article.
Spatial and temporal fluctuations in COVID-19 fatality rates in Brazilian hospitals.
Brizzi A, Whittaker C, Servo LMS, Hawryluk I, Prete CA Jr, de Souza WM, Aguiar RS, Araujo LJT, Bastos LS, Blenkinsop A, Buss LF, Candido D, Castro MC, Costa SF, Croda J, de Souza Santos AA, Dye C, Flaxman S, Fonseca PLC, Geddes VEV, Gutierrez B, Lemey P, Levin AS, Mellan T, Bonfim DM, Miscouridou X, Mishra S, Monod M, Moreira FRR, Nelson B, Pereira RHM, Ranzani O, Schnekenberg RP, Semenova E, Sonabend R, Souza RP, Xi X, Sabino EC, Faria NR, Bhatt S, Ratmann O. Brizzi A, et al. Among authors: schnekenberg rp. Nat Med. 2022 Jul;28(7):1476-1485. doi: 10.1038/s41591-022-01807-1. Epub 2022 May 10. Nat Med. 2022. PMID: 35538260 Free PMC article.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Rajan DS, et al. Among authors: schnekenberg rp. Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35295849 Free PMC article.
Report 46: Factors driving extensive spatial and temporal fluctuations in COVID-19 fatality rates in Brazilian hospitals.
Brizzi A, Whittaker C, Servo LMS, Hawryluk I, Prete CA Jr, de Souza WM, Aguiar RS, Araujo LJT, Bastos LS, Blenkinsop A, Buss LF, Candido D, Castro MC, Costa SF, Croda J, de Souza Santos AA, Dye C, Flaxman S, Fonseca PLC, Geddes VEV, Gutierrez B, Lemey P, Levin AS, Mellan T, Bonfim DM, Miscouridou X, Mishra S, Monod M, Moreira FRR, Nelson B, Pereira RHM, Ranzani O, Schnekenberg RP, Semenova E, Sonnabend R, Souza RP, Xi X, Sabino EC, Faria NR, Bhatt S, Ratmann O. Brizzi A, et al. Among authors: schnekenberg rp. medRxiv [Preprint]. 2021 Nov 2:2021.11.01.21265731. doi: 10.1101/2021.11.01.21265731. medRxiv. 2021. Update in: Nat Med. 2022 Jul;28(7):1476-1485. doi: 10.1038/s41591-022-01807-1. PMID: 34751273 Free PMC article. Updated. Preprint.
Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil.
Faria NR, Mellan TA, Whittaker C, Claro IM, Candido DDS, Mishra S, Crispim MAE, Sales FCS, Hawryluk I, McCrone JT, Hulswit RJG, Franco LAM, Ramundo MS, de Jesus JG, Andrade PS, Coletti TM, Ferreira GM, Silva CAM, Manuli ER, Pereira RHM, Peixoto PS, Kraemer MUG, Gaburo N Jr, Camilo CDC, Hoeltgebaum H, Souza WM, Rocha EC, de Souza LM, de Pinho MC, Araujo LJT, Malta FSV, de Lima AB, Silva JDP, Zauli DAG, Ferreira ACS, Schnekenberg RP, Laydon DJ, Walker PGT, Schlüter HM, Dos Santos ALP, Vidal MS, Del Caro VS, Filho RMF, Dos Santos HM, Aguiar RS, Proença-Modena JL, Nelson B, Hay JA, Monod M, Miscouridou X, Coupland H, Sonabend R, Vollmer M, Gandy A, Prete CA Jr, Nascimento VH, Suchard MA, Bowden TA, Pond SLK, Wu CH, Ratmann O, Ferguson NM, Dye C, Loman NJ, Lemey P, Rambaut A, Fraiji NA, Carvalho MDPSS, Pybus OG, Flaxman S, Bhatt S, Sabino EC. Faria NR, et al. Among authors: schnekenberg rp. Science. 2021 May 21;372(6544):815-821. doi: 10.1126/science.abh2644. Epub 2021 Apr 14. Science. 2021. PMID: 33853970 Free PMC article.
Genomics and epidemiology of a novel SARS-CoV-2 lineage in Manaus, Brazil.
Faria NR, Mellan TA, Whittaker C, Claro IM, Candido DDS, Mishra S, Crispim MAE, Sales FC, Hawryluk I, McCrone JT, Hulswit RJG, Franco LAM, Ramundo MS, de Jesus JG, Andrade PS, Coletti TM, Ferreira GM, Silva CAM, Manuli ER, Pereira RHM, Peixoto PS, Kraemer MU, Gaburo N Jr, Camilo CDC, Hoeltgebaum H, Souza WM, Rocha EC, de Souza LM, de Pinho MC, Araujo LJT, Malta FSV, de Lima AB, Silva JDP, Zauli DAG, de S Ferreira AC, Schnekenberg RP, Laydon DJ, Walker PGT, Schlüter HM, Dos Santos ALP, Vidal MS, Del Caro VS, Filho RMF, Dos Santos HM, Aguiar RS, Modena JLP, Nelson B, Hay JA, Monod M, Miscouridou X, Coupland H, Sonabend R, Vollmer M, Gandy A, Suchard MA, Bowden TA, Pond SLK, Wu CH, Ratmann O, Ferguson NM, Dye C, Loman NJ, Lemey P, Rambaut A, Fraiji NA, Carvalho MDPSS, Pybus OG, Flaxman S, Bhatt S, Sabino EC. Faria NR, et al. Among authors: schnekenberg rp. medRxiv [Preprint]. 2021 Mar 3:2021.02.26.21252554. doi: 10.1101/2021.02.26.21252554. medRxiv. 2021. Update in: Science. 2021 May 21;372(6544):815-821. doi: 10.1126/science.abh2644. PMID: 33688664 Free PMC article. Updated. Preprint.
Inference of COVID-19 epidemiological distributions from Brazilian hospital data.
Hawryluk I, Mellan TA, Hoeltgebaum H, Mishra S, Schnekenberg RP, Whittaker C, Zhu H, Gandy A, Donnelly CA, Flaxman S, Bhatt S. Hawryluk I, et al. Among authors: schnekenberg rp. J R Soc Interface. 2020 Nov;17(172):20200596. doi: 10.1098/rsif.2020.0596. Epub 2020 Nov 25. J R Soc Interface. 2020. PMID: 33234065 Free PMC article.
15 results