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Ricardo Parolin Schnekenberg
Ricardo Parolin Schnekenberg
DPhil Candidate, Nuffield Department of Clinical Neurosciences, University of Oxford
在 ndcn.ox.ac.uk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
16042021
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
1992013
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
1652015
Report 21: Estimating COVID-19 cases and reproduction number in Brazil
TA Mellan, HH Hoeltgebaum, S Mishra, C Whittaker, RP Schnekenberg, ...
1422020
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
1132012
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
1112020
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
932017
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
432022
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
402022
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
372020
Next-generation sequencing in childhood disorders
RP Schnekenberg, AH Németh
Archives of disease in childhood 99 (3), 284-290, 2014
312014
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
202020
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
132021
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
122022
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
112021
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A Cortese, SJ Beecroft, S Facchini, R Curro, M Cabrera-Serrano, ...
Nature Communications 15 (1), 6327, 2024
82024
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
82023
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 147 (5), 1887-1898, 2024
42024
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
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
JP Tolonen, R Parolin Schnekenberg, S McGowan, D Sims, M McEntagart, ...
Movement Disorders 39 (1), 141-151, 2024
22024
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