Sander Pajusalu
Overview
Explore the profile of Sander Pajusalu including associated specialties, affiliations and a list of published articles.
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70
Citations
948
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Recent Articles
1.
Ounap K, Reimand T, Oiglane-Shlik E, Puusepp S, Mihkla L, Pajusalu S, et al.
Neurol Genet
. 2025 Jan;
10(6):e200199.
PMID: 39807212
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who...
2.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh V, Austin-Tse C, et al.
Genet Med
. 2024 Dec;
27(4):101336.
PMID: 39670433
Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome, or panel sequencing data sets aligned to a GRCh37,...
3.
Lace B, Faqeih E, Kaya N, Krumina Z, Mayr J, Micule I, et al.
JIMD Rep
. 2024 Nov;
65(5):297-304.
PMID: 39544688
The gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of...
4.
Wojcik M, Lemire G, Berger E, Zaki M, Wissmann M, Win W, et al.
N Engl J Med
. 2024 Jun;
390(21):1985-1997.
PMID: 38838312
Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains...
5.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao K, Singer-Berk M, et al.
Am J Hum Genet
. 2024 Apr;
111(5):863-876.
PMID: 38565148
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and, with new innovative methods, can now reliably be identified from exome sequencing. Challenges still remain...
6.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh V, Austin-Tse C, et al.
medRxiv
. 2024 Feb;
PMID: 38405995
Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second...
7.
Wojcik M, Lemire G, Zaki M, Wissman M, Win W, White S, et al.
medRxiv
. 2024 Feb;
PMID: 38328047
Background: Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the...
8.
Donkervoort S, Mohassel P, OLeary M, Bonner D, Hartley T, Acquaye N, et al.
Ann Clin Transl Neurol
. 2024 Feb;
11(3):629-640.
PMID: 38311799
Objective: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants...
9.
Engal E, Oja K, Maroofian R, Geminder O, Le T, Marzin P, et al.
Am J Hum Genet
. 2023 Nov;
110(12):2112-2119.
PMID: 37963460
Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not...
10.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao K, Singer-Berk M, et al.
medRxiv
. 2023 Oct;
PMID: 37873196
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain...