Gerard D Schellenberg
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Explore the profile of Gerard D Schellenberg including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Wang H, Chang T, Dombroski B, Cheng P, Patil V, Valiente-Banuet L, et al.
Mol Neurodegener
. 2024 Aug;
19(1):61.
PMID: 39152475
Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were...
12.
Abu-Amara H, Zhao W, Li Z, Leung Y, Schellenberg G, Wang L, et al.
Res Sq
. 2024 Aug;
PMID: 39149469
The prevalence of dementia among South Asians across India is approximately 7.4% in those 60 years and older, yet little is known about genetic risk factors for dementia in this...
13.
Cheng P, Wang H, Dombroski B, Farrell J, Horng I, Chung T, et al.
medRxiv
. 2024 Aug;
PMID: 39108532
We developed an imputation panel for Alzheimer's disease (AD) and related dementias (ADRD) using whole-genome sequencing (WGS) data from the Alzheimer's Disease Sequencing Project (ADSP). Recognizing the significant associations between...
14.
Ray N, Kunkle B, Hamilton-Nelson K, Kurup J, Rajabli F, Qiao M, et al.
Alzheimers Dement
. 2024 Jul;
20(8):5247-5261.
PMID: 38958117
Introduction: Despite a two-fold risk, individuals of African ancestry have been underrepresented in Alzheimer's disease (AD) genomics efforts. Methods: Genome-wide association studies (GWAS) of 2,903 AD cases and 6,265 controls...
15.
Akay-Espinoza C, Newton S, Dombroski B, Kallianpur A, Bharti A, Franklin D, et al.
J Neuroimmune Pharmacol
. 2024 May;
19(1):25.
PMID: 38789639
Based on emerging evidence on the role for specific single-nucleotide variants (SNVs) in EIF2AK3 encoding the integrated stress response kinase PERK, in neurodegeneration, we assessed the association of EIF2AK3 SNVs...
16.
Zhu C, Tong T, Farrell J, Martin E, Bush W, Pericak-Vance M, et al.
J Alzheimers Dis Rep
. 2024 May;
8(1):575-587.
PMID: 38746629
Background: Mitochondrial DNA (mtDNA) is a double-stranded circular DNA and has multiple copies in each cell. Excess heteroplasmy, the coexistence of distinct variants in copies of mtDNA within a cell,...
17.
Xu H, Qiu Q, Hu P, Hoxha K, Jang E, OReilly M, et al.
Acta Neuropathol
. 2024 Mar;
147(1):55.
PMID: 38472475
Inclusions comprised of microtubule-associated protein tau (tau) are implicated in a group of neurodegenerative diseases, collectively known as tauopathies, that include Alzheimer's disease (AD). The spreading of misfolded tau "seeds"...
18.
Wang H, Chang T, Dombroski B, Cheng P, Si Y, Tucci A, et al.
medRxiv
. 2024 Mar;
PMID: 38464214
Importance: The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to...
19.
Malamon J, Farrell J, Xia L, Dombroski B, Das R, Way J, et al.
Life Sci Alliance
. 2024 Feb;
7(5).
PMID: 38418088
Detecting structural variants (SVs) in whole-genome sequencing poses significant challenges. We present a protocol for variant calling, merging, genotyping, sensitivity analysis, and laboratory validation for generating a high-quality SV call...
20.
Kerdoncuff E, Skov L, Patterson N, Zhao W, Lueng Y, Schellenberg G, et al.
bioRxiv
. 2024 Feb;
PMID: 38405782
India has been underrepresented in whole genome sequencing studies. We generated 2,762 high coverage genomes from India-including individuals from most geographic regions, speakers of all major languages, and tribal and...