Antanaviciute A - Search Results

1

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: antanaviciute a. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.

2

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Watson CM, et al. Among authors: antanaviciute a. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. J Med Genet. 2016. PMID: 26733463 Free PMC article.

3

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Smith CEL, et al. Among authors: antanaviciute a. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Front Physiol. 2017. PMID: 28694781 Free PMC article. Review.

4

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT. Watson CM, et al. Among authors: antanaviciute a. BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z. BMC Med Genet. 2016. PMID: 26729329 Free PMC article.

5

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Watson CM, Camm N, Crinnion LA, Antanaviciute A, Adlard J, Markham AF, Carr IM, Charlton R, Bonthron DT. Watson CM, et al. Among authors: antanaviciute a. J Mol Diagn. 2017 Nov;19(6):933-940. doi: 10.1016/j.jmoldx.2017.08.002. Epub 2017 Sep 1. J Mol Diagn. 2017. PMID: 28867604 Free article.

6

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM. Antanaviciute A, et al. Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12. Bioinformatics. 2015. PMID: 26272982 Free PMC article.

7

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.

Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM. Antanaviciute A, et al. Bioinformatics. 2015 Aug 15;31(16):2728-35. doi: 10.1093/bioinformatics/btv196. Epub 2015 Apr 9. Bioinformatics. 2015. PMID: 25861967 Free PMC article.

8

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E. Watson CM, et al. Among authors: antanaviciute a. PLoS One. 2016 Jun 7;11(6):e0157075. doi: 10.1371/journal.pone.0157075. eCollection 2016. PLoS One. 2016. PMID: 27272187 Free PMC article.

9

m6aViewer: software for the detection, analysis, and visualization of N⁶-methyladenosine peaks from m⁶A-seq/ME-RIP sequencing data.

Antanaviciute A, Baquero-Perez B, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Whitehouse A, Carr IM. Antanaviciute A, et al. RNA. 2017 Oct;23(10):1493-1501. doi: 10.1261/rna.058206.116. Epub 2017 Jul 19. RNA. 2017. PMID: 28724534 Free PMC article.

10

HLA-dependent variation in SARS-CoV-2 CD8 ⁺ T cell cross-reactivity with human coronaviruses.

Buckley PR, Lee CH, Pereira Pinho M, Ottakandathil Babu R, Woo J, Antanaviciute A, Simmons A, Ogg G, Koohy H. Buckley PR, et al. Among authors: antanaviciute a. Immunology. 2022 May;166(1):78-103. doi: 10.1111/imm.13451. Epub 2022 Mar 7. Immunology. 2022. PMID: 35143694 Free PMC article.

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