Genetic Risk Profiling in Parkinson’s Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways

por Hall, Ashley, Bandres-Ciga, Sara, Diez-Fairen, Monica, Quinn, John P., Billingsley, Kimberley J.
Publicado 2020

MIDN locus structural variants and Parkinson's Disease risk

por Billingsley, Kimberley J., Bandres‐Ciga, Sara, Ding, Jinhui, Hernandez, Dena, Gibbs, J. Raphael, Blauwendraat, Cornelis
Publicado 2020

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome

por Gianfrancesco, Olympia, Geary, Bethany, Savage, Abigail L., Billingsley, Kimberley J., Bubb, Vivien J., Quinn, John P.
Publicado 2019

A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus

por Hall, Ashley, Moore, Anni K., Hernandez, Dena G., Billingsley, Kimberley J., Bubb, Vivien J., Quinn, John P.
Publicado 2020

Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology

por Billingsley, Kimberley J., Manca, Maurizio, Gianfrancesco, Olympia, Collier, David A., Sharp, Helen, Bubb, Vivien J., Quinn, John P.
Publicado 2018

Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements

por Billingsley, Kimberley J., Lättekivi, Freddy, Planken, Anu, Reimann, Ene, Kurvits, Lille, Kadastik-Eerme, Liis, Kasterpalu, Kristjan M., Bubb, Vivien J., Quinn, John P., Kõks, Sulev, Taba, Pille
Publicado 2019

Long-read sequencing resolves a complex structural variant in PRKN Parkinson’s disease

por Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J, Malik, Laksh, Miano-Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Publicado 2023

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

por Billingsley, Kimberley J., Barbosa, Ines A., Bandrés-Ciga, Sara, Quinn, John P., Bubb, Vivien J., Deshpande, Charu, Botia, Juan A., Reynolds, Regina H., Zhang, David, Simpson, Michael A., Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J. Raphael, Nalls, Mike A., Singleton, Andrew, Ryten, Mina, Koks, Sulev
Publicado 2019

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease

por Alvarez Jerez, Pilar, Alcantud, Jose Luis, de los Reyes-Ramírez, Lucia, Moore, Anni, Ruz, Clara, Vives Montero, Francisco, Rodriguez-Losada, Noela, Saini, Prabhjyot, Gan-Or, Ziv, Alvarado, Chelsea X., Makarious, Mary B., Billingsley, Kimberley J., Blauwendraat, Cornelis, Noyce, Alastair J., Singleton, Andrew B., Duran, Raquel, Bandres-Ciga, Sara
Publicado 2023

Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts

por Dadu, Anant, Satone, Vipul, Kaur, Rachneet, Hashemi, Sayed Hadi, Leonard, Hampton, Iwaki, Hirotaka, Makarious, Mary B., Billingsley, Kimberley J., Bandres‐Ciga, Sara, Sargent, Lana J., Noyce, Alastair J., Daneshmand, Ali, Blauwendraat, Cornelis, Marek, Ken, Scholz, Sonja W., Singleton, Andrew B., Nalls, Mike A., Campbell, Roy H., Faghri, Faraz
Publicado 2022

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

por Kolmogorov, Mikhail, Billingsley, Kimberley J., Mastoras, Mira, Meredith, Melissa, Monlong, Jean, Lorig-Roach, Ryan, Asri, Mobin, Jerez, Pilar Alvarez, Malik, Laksh, Dewan, Ramita, Reed, Xylena, Genner, Rylee M., Daida, Kensuke, Behera, Sairam, Shafin, Kishwar, Pesout, Trevor, Prabakaran, Jeshuwin, Carnevali, Paolo, Yang, Jianzhi, Rhie, Arang, Scholz, Sonja W., Traynor, Bryan J., Miga, Karen H., Jain, Miten, Timp, Winston, Phillippy, Adam M., Chaisson, Mark, Sedlazeck, Fritz J., Blauwendraat, Cornelis, Paten, Benedict
Publicado 2023

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism

por Bressan, Elisangela, Reed, Xylena, Bansal, Vikas, Hutchins, Elizabeth, Cobb, Melanie M., Webb, Michelle G., Alsop, Eric, Grenn, Francis P., Illarionova, Anastasia, Savytska, Natalia, Violich, Ivo, Broeer, Stefanie, Fernandes, Noémia, Sivakumar, Ramiyapriya, Beilina, Alexandra, Billingsley, Kimberley J., Berghausen, Joos, Pantazis, Caroline B., Pitz, Vanessa, Patel, Dhairya, Daida, Kensuke, Meechoovet, Bessie, Reiman, Rebecca, Courtright-Lim, Amanda, Logemann, Amber, Antone, Jerry, Barch, Mariya, Kitchen, Robert, Li, Yan, Dalgard, Clifton L., Rizzu, Patrizia, Hernandez, Dena G., Hjelm, Brooke E., Nalls, Mike, Gibbs, J. Raphael, Finkbeiner, Steven, Cookson, Mark R., Van Keuren-Jensen, Kendall, Craig, David W., Singleton, Andrew B., Heutink, Peter, Blauwendraat, Cornelis
Publicado 2023