Genomics and epidemiology of the P. 1 SARS-CoV-2 lineage in Manaus, Brazil NR Faria, TA Mellan, C Whittaker, IM Claro, DS Candido, S Mishra, ... Science 372 (6544), 815-821, 2021 | 1558 | 2021 |
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model AH Németh, AC Kwasniewska, S Lise, R Parolin Schnekenberg, ... Brain 136 (10), 3106-3118, 2013 | 201 | 2013 |
De novo point mutations in patients diagnosed with ataxic cerebral palsy R Parolin Schnekenberg, EM Perkins, JW Miller, WIL Davies, ... Brain 138 (7), 1817-1832, 2015 | 161 | 2015 |
Report 21: Estimating COVID-19 cases and reproduction number in Brazil TA Mellan, HH Hoeltgebaum, S Mishra, C Whittaker, RP Schnekenberg, ... | 141 | 2020 |
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development S Lise, Y Clarkson, E Perkins, A Kwasniewska, E Sadighi Akha, ... PLoS genetics 8 (12), e1003074, 2012 | 109 | 2012 |
Supplementary data–report 34: COVID-19 infection fatality ratio: estimates from seroprevalence N Brazeau, R Verity, S Jenks, H Fu, C Whittaker, P Winskill, I Dorigatti, ... London: Imperial College, 2020 | 108 | 2020 |
Dominant mutations in GRM1 cause spinocerebellar ataxia type 44 LM Watson, E Bamber, RP Schnekenberg, J Williams, C Bettencourt, ... The American Journal of Human Genetics 101 (3), 451-458, 2017 | 90 | 2017 |
Estimating the COVID-19 infection fatality ratio accounting for seroreversion using statistical modelling NF Brazeau, R Verity, S Jenks, H Fu, C Whittaker, P Winskill, I Dorigatti, ... Communications medicine 2 (1), 54, 2022 | 39 | 2022 |
Spatial and temporal fluctuations in COVID-19 fatality rates in Brazilian hospitals A Brizzi, C Whittaker, LMS Servo, I Hawryluk, CA Prete Jr, WM de Souza, ... Nature medicine 28 (7), 1476-1485, 2022 | 37 | 2022 |
Inference of COVID-19 epidemiological distributions from Brazilian hospital data I Hawryluk, TA Mellan, H Hoeltgebaum, S Mishra, RP Schnekenberg, ... Journal of the Royal Society Interface 17 (172), 20200596, 2020 | 36 | 2020 |
Next-generation sequencing in childhood disorders RP Schnekenberg, AH Németh Archives of disease in childhood 99 (3), 284-290, 2014 | 30 | 2014 |
Subnational analysis of the COVID-19 epidemic in Brazil TA Mellan, HH Hoeltgebaum, S Mishra, C Whittaker, RP Schnekenberg, ... MedRxiv, 2020.05. 09.20096701, 2020 | 19 | 2020 |
Gaussian process nowcasting: application to COVID-19 mortality reporting I Hawryluk, H Hoeltgebaum, S Mishra, X Miscouridou, RP Schnekenberg, ... Uncertainty in Artificial Intelligence, 1258-1268, 2021 | 11 | 2021 |
Report 46: Factors driving extensive spatial and temporal fluctuations in COVID-19 fatality rates in Brazilian hospitals A Brizzi, C Whittaker, LMS Servo, I Hawryluk, CA Prete Jr, WM de Souza, ... Medrxiv, 2021 | 11 | 2021 |
Autosomal recessive cerebellar atrophy and spastic ataxia in patients with pathogenic biallelic variants in GEMIN5 DS Rajan, S Kour, TR Fortuna, MA Cousin, SS Barnett, Z Niu, ... Frontiers in Cell and Developmental Biology 10, 783762, 2022 | 10 | 2022 |
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions S Facchini, N Dominik, A Manini, S Efthymiou, R Currò, B Rugginini, ... Biomolecules 13 (10), 1546, 2023 | 4 | 2023 |
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry A Cortese, SJ Beecroft, S Facchini, R Curro, M Cabrera-Serrano, ... medRxiv, 2023.10. 09.23296582, 2023 | 4 | 2023 |
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease R Currò, N Dominik, S Facchini, E Vegezzi, R Sullivan, V Galassi Deforie, ... Brain, awad436, 2024 | 3 | 2024 |
Lilith Whittles, Samir Bhatt, Azra C Ghani, Neil M Ferguson, Lucy C Okell. 2020.“Report 34: COVID-19 Infection Fatality Ratio: Estimates from Seroprevalence.” NF Brazeau, R Verity, S Jenks, H Fu, C Whittaker, P Winskill, I Dorigatti, ... Imperial College London, 0 | 3 | |
Genomics and epidemiology of a novel SARS-CoV-2 lineage in Manaus, Brazil (preprint) N Faria, T Mellan, C Whittaker, I Claro, D da Candido, S Mishra, ... | 2 | 2021 |