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 | 1 | 2024 |
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 | 1 | 2024 |
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 | 2 | 2024 |
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 | 1 | 2024 |
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 | 2 | 2024 |
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 | 1 | 2024 |
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 | 3 | 2024 |
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 | 13 | 2024 |
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 | 1 | 2024 |
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 |