E-LIB Suche - Ergebnisse für: Alvarez Jerez, Pilar

1

The Role of Structural Variants in the Genetic Architecture..:

Miano-Burkhardt, Abigail ; Alvarez Jerez, Pilar ; Daida, Kensuke..
International Journal of Molecular Sciences. 25 (2024) 9 - p. 4801 , 2024

Link: https://doi.org/10.3390/..

2

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion ..:

Chen, Zhongbo ; Gustavsson, Emil K. ; Macpherson, Hannah...
Movement Disorders. 39 (2024) 3 - p. 486-497 , 2024

Link: https://doi.org/10.1002/..

3

Profiling complex repeat expansions in RFC1 in Parkinson's ..:

Alvarez Jerez, Pilar ; Daida, Kensuke ; Miano-Burkhardt, Abigail...
npj Parkinson's Disease. 10 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

4

Genome-wide structural variant analysis identifies risk loc..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
Cell Genomics. 3 (2023) 6 - p. 100316 , 2023

Link: https://doi.org/10.1016/..

5

Scalable Nanopore sequencing of human genomes provides a co..:

Kolmogorov, Mikhail ; Billingsley, Kimberley J. ; Mastoras, Mira...
Nature Methods. 20 (2023) 10 - p. 1483-1492 , 2023

Link: https://doi.org/10.1038/..

6

Exploring the genetic and genomic connection underlying neu..:

Alvarez Jerez, Pilar ; Alcantud, Jose Luis ; de los Reyes-Ramírez, Lucia...
npj Parkinson's Disease. 9 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

7

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's..:

Billingsley, Kimberley J. ; Alvarez Jerez, Pilar ; Grenn, Francis P....
Movement Disorders. 37 (2022) 10 - p. 2161-2162 , 2022

Link: https://doi.org/10.1002/..

8

The Genetic Landscape of Parkinsonism-Related Dystonias and..:

Diez-Fairen, Monica ; Alvarez Jerez, Pilar ; Berghausen, Joos.
International Journal of Molecular Sciences. 22 (2021) 15 - p. 8100 , 2021

Link: https://doi.org/10.3390/..

9

Large-scale rare variant burden testing in Parkinson's dise..:

Makarious, Mary B ; Lake, Julie ; Pitz, Vanessa...
Brain. , 2023

Link: https://doi.org/10.1093/..

10

Structural variants in Lewy body dementia and frontotempora..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
Alzheimer's & Dementia. 19 (2023) S12 - p. , 2023

Link: https://doi.org/10.1002/..

11

Genome‐Wide Analysis of Structural Variants in Parkinson Di..:

Billingsley, Kimberley J. ; Ding, Jinhui ; Jerez, Pilar Alvarez...
Annals of Neurology. 93 (2023) 5 - p. 1012-1022 , 2023

Link: https://doi.org/10.1002/..

12

Author Correction: The IPDGC/GP2 Hackathon - an open scienc..:

Leonard, Hampton L ; Murtadha, Ruqaya ; Martinez-Carrasco, Alejandro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209147/. , 2023

Link: http://www.ncbi.nlm.nih...

13

The IPDGC/GP2 Hackathon - an open science event for trainin..:

Leonard, Hampton L ; Murtadha, Ruqaya ; Martinez-Carrasco, Alejandro...
https://discovery.ucl.ac.uk/id/eprint/10166903/1/s41531-023-00472-6.pdf. , 2023

Link: https://discovery.ucl.ac..

14

Author Correction: The IPDGC/GP2 Hackathon - an open scienc..:

Leonard, Hampton L ; Murtadha, Ruqaya ; Martinez-Carrasco, Alejandro...
https://discovery.ucl.ac.uk/id/eprint/10182116/1/Author%20Correction%20The%20IPDGCGP2%20Hackathon%20-%20an%20open%20science%20event%20for%20training%20in%20data%20science,%20genomics,%20and%20collaboration%20u.pdf. , 2023

Link: https://discovery.ucl.ac..

15

Genome-wide structural variant analysis identifies risk loc..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300553/. , 2023

Link: http://www.ncbi.nlm.nih...