Pilar Alvarez Jerez
Overview
Explore the profile of Pilar Alvarez Jerez including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
22
Citations
133
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Genner R, Akeson S, Meredith M, Jerez P, Malik L, Baker B, et al.
Genome Res
. 2025 Mar;
PMID: 40054862
DNA methylation most commonly occurs as 5-methylcytosine (5mC) in the human genome and has been associated with human diseases. Recent developments in single-molecule sequencing technologies (Oxford Nanopore Technologies (ONT) and...
2.
Akcimen F, Paquette K, Wild Crea P, Saffie-Awad P, Achoru C, Taiwo F, et al.
medRxiv
. 2025 Jan;
PMID: 39867380
Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest...
3.
Jerez P, Wild Crea P, Ramos D, Gustavsson E, Radefeldt M, Makarious M, et al.
medRxiv
. 2025 Jan;
PMID: 39802803
Recently, a novel African ancestry specific Parkinson's disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (). This variant (rs3115534-G) is carried by ~50% of West African PD...
4.
Billingsley K, Meredith M, Daida K, Jerez P, Negi S, Malik L, et al.
bioRxiv
. 2025 Jan;
PMID: 39764002
Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which...
5.
Jerez P, Wild Crea P, Ramos D, Gustavsson E, Radefeldt M, Damianov A, et al.
Nat Struct Mol Biol
. 2024 Dec;
31(12):1955-1963.
PMID: 39668204
Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD...
6.
Chen Z, Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, et al.
Mov Disord
. 2024 Dec;
40(2):363-369.
PMID: 39635987
Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to...
7.
Dwarshuis N, Kalra D, McDaniel J, Sanio P, Jerez P, Jadhav B, et al.
Nat Commun
. 2024 Oct;
15(1):9029.
PMID: 39424793
Despite the growing variety of sequencing and variant-calling tools, no workflow performs equally well across the entire human genome. Understanding context-dependent performance is critical for enabling researchers, clinicians, and developers...
8.
Jerez P, Daida K, Grenn F, Malik L, Miano-Burkhardt A, Makarious M, et al.
NPJ Parkinsons Dis
. 2024 Jul;
10(1):136.
PMID: 39060285
Parkinson's disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is...
9.
Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, et al.
NPJ Parkinsons Dis
. 2024 May;
10(1):108.
PMID: 38789445
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and...
10.
Miano-Burkhardt A, Jerez P, Daida K, Ciga S, Billingsley K
Int J Mol Sci
. 2024 May;
25(9).
PMID: 38732020
Parkinson's disease (PD) significantly impacts millions of individuals worldwide. Although our understanding of the genetic foundations of PD has advanced, a substantial portion of the genetic variation contributing to disease...