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Cornelis Blauwendraat
Cornelis Blauwendraat
NIH/NIA
Verified email at nih.gov
Title
Cited by
Year
Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study
L Cook, J Verbrugge, TH Schwantes-An, J Schulze, T Foroud, A Hall, ...
Brain, awae142, 2024
12024
Neuroimaging features of CSF α-synuclein seed amplification assay positivity in elderly individuals in AD continuum
D Tosun, SM Landau, MSW Weiner, C Blauwendraat
Alzheimer's Association International Conference, 2024
2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing
P Alvarez Jerez, K Daida, FP Grenn, L Malik, A Miano-Burkhardt, ...
npj Parkinson's Disease 10 (1), 136, 2024
2024
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
EK Gustavsson, S Sethi, Y Gao, JW Brenton, S García-Ruiz, D Zhang, ...
Science Advances 10 (26), eadk1296, 2024
2024
Investigation of the genetic aetiology of Lewy body diseases with and without dementia
LY Wu, R Real, A Martinez-Carrasco, R Chia, MA Lawton, M Shoai, ...
Brain Communications, fcae190, 2024
2024
Profiling complex repeat expansions in RFC1 in Parkinson’s disease
P Alvarez Jerez, K Daida, A Miano-Burkhardt, H Iwaki, L Malik, G Cogan, ...
npj Parkinson's Disease 10 (1), 108, 2024
2024
A cross‐sectional study of α‐synuclein seed amplification assay in Alzheimer's disease neuroimaging initiative: Prevalence and associations with Alzheimer's disease biomarkers …
D Tosun, Z Hausle, H Iwaki, P Thropp, J Lamoureux, EB Lee, K MacLeod, ...
Alzheimer's & Dementia, 2024
12024
Long-read sequencing unravels the complexity of structural variants inPRKNin two individuals with early-onset Parkinson’s disease
G Cogan, K Daida, KJ Billingsley, C Tesson, S Forlani, L Jornea, ...
2024
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
RR Valentino, WJ Scotton, SF Roemer, T Lashley, MG Heckman, M Shoai, ...
The Lancet Neurology 23 (5), 487-499, 2024
22024
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians
OO Ojo, S Bandres‐Ciga, MB Makarious, PW Crea, DG Hernandez, ...
Movement Disorders 39 (4), 728-733, 2024
12024
Processing frozen human blood samples for population-scale SQK-LSK114 Oxford Nanopore long-read DNA sequencing SOP V2
A Miano-Burkhardt, PA Jerez, L Malik, C Blauwendraat, KJ Billingsley
22024
GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis
D Vitale, M Koretsky, N Kuznetsov, S Hong, J Martin, M James, ...
bioRxiv, 2024.03. 26.586362, 2024
12024
Insight into the structure of breakage fusion bridge events and chromothripsis in cancer cell lines using long-read sequencing
I Rodriguez, N Rossi, AG Kesus, Y Xie, T Ahmad, A Bryant, H Lou, ...
Cancer Research 84 (6_Supplement), 4334-4334, 2024
2024
Understanding monogenic Parkinson’s disease at a global scale
J Junker, LM Lange, EJ Vollstedt, K Roopnarain, MLM Doquenia, ...
medRxiv, 2024
2024
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing
I Rodriguez, NM Rossi, AG Keskus, Y Xie, T Ahmad, A Bryant, H Lou, ...
The American Journal of Human Genetics 111 (3), 544-561, 2024
32024
Harnessing diversity to study Alzheimer’s disease: A new iPSC resource from the NIH CARD and ADNI
LA Screven, CB Pantazis, KM Andersh, S Hong, D Vitale, E Lara, RY Ku, ...
Neuron 112 (5), 694-697, 2024
2024
Assessing methylation detection for primary human tissue using Nanopore sequencing
R Genner, S Akeson, M Meredith, PA Jerez, L Malik, B Baker, ...
bioRxiv, 2024
2024
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Z Chen, EK Gustavsson, H Macpherson, C Anderson, C Clarkson, ...
Movement Disorders 39 (3), 486-497, 2024
132024
iSCORE-PD: an isogenic stem cell collection to research Parkinson’s Disease
O Busquets, H Li, KM Syed, PA Jerez, J Dunnack, RL Bu, Y Verma, ...
bioRxiv, 2024
12024
A genetic and transcriptomic assessment of the KTN1 gene in Parkinson’s disease risk
A Moore, PW Crea, M Makarious, S Bandres-Ciga, C Blauwendraat, ...
Neurobiology of Aging 134, 66-73, 2024
2024
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