Pajusalu S - Search Results

1

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.

Lace B, Pajusalu S, Livcane D, Grinfelde I, Akota I, Mauliņa I, Barkāne B, Stavusis J, Inashkina I. Lace B, et al. Among authors: pajusalu s. Front Genet. 2022 Feb 24;13:828534. doi: 10.3389/fgene.2022.828534. eCollection 2022. Front Genet. 2022. PMID: 35281813 Free PMC article.

2

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. Pajusalu S, et al. Clin Genet. 2018 Jan;93(1):78-83. doi: 10.1111/cge.13031. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28378410

3

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Stavusis J, et al. Among authors: pajusalu s. Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17. Ann Neurol. 2019. PMID: 31025394 Free PMC article.

4

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Pajusalu S, Vals MA, Mihkla L, Šamarina U, Kahre T, Õunap K. Pajusalu S, et al. Front Genet. 2021 Aug 10;12:719437. doi: 10.3389/fgene.2021.719437. eCollection 2021. Front Genet. 2021. PMID: 34447415 Free PMC article.

5

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Sarv S, Kahre T, Vaidla E, Pajusalu S, Muru K, Põder H, Gross-Paju K, Ütt S, Žordania R, Talvik I, Õiglane-Shlik E, Muhu K, Õunap K. Sarv S, et al. Among authors: pajusalu s. Front Genet. 2021 Dec 22;12:796862. doi: 10.3389/fgene.2021.796862. eCollection 2021. Front Genet. 2021. PMID: 35003227 Free PMC article.

6

Case Report: Two Families With HPDL Related Neurodegeneration.

Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I. Micule I, et al. Among authors: pajusalu s. Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022. Front Genet. 2022. PMID: 35222531 Free PMC article.

7

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.

Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: pajusalu s. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190

8

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K. Puusepp S, et al. Among authors: pajusalu s. Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30009132 Free PMC article.

9

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K. Ridnõi K, et al. Among authors: pajusalu s. Mol Genet Genomic Med. 2019 May;7(5):e614. doi: 10.1002/mgg3.614. Epub 2019 Mar 9. Mol Genet Genomic Med. 2019. PMID: 30851085 Free PMC article.

10

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.

Mauring L, Puusepp S, Parik M, Roomets E, Teek R, Reimand T, Pajusalu S, Kaljurand K, Õunap K. Mauring L, et al. Among authors: pajusalu s. Eur J Med Genet. 2023 Sep;66(9):104821. doi: 10.1016/j.ejmg.2023.104821. Epub 2023 Aug 12. Eur J Med Genet. 2023. PMID: 37579815

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