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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Breast Cancer Res. 2024 Jan 9;26(1):6. doi: 10.1186/s13058-023-01755-9.
Breast Cancer Res. 2024.
PMID: 38195559
Free PMC article.
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Miceikaitė I, Hao Q, Brasch-Andersen C, Fagerberg CR, Torring PM, Kristiansen BS, Ousager LB, Sperling L, Ibsen MH, Löser K, Larsen MJ.
Miceikaitė I, et al.
N Engl J Med. 2023 Nov 23;389(21):2017-2019. doi: 10.1056/NEJMc2307918.
N Engl J Med. 2023.
PMID: 37991863
No abstract available.
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Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I, Fagerberg C, Brasch-Andersen C, Torring PM, Kristiansen BS, Hao Q, Sperling L, Ibsen MH, Löser K, Bendsen EA, Ousager LB, Larsen MJ.
Miceikaite I, et al.
Prenat Diagn. 2023 Aug;43(9):1132-1141. doi: 10.1002/pd.6402. Epub 2023 Jul 3.
Prenat Diagn. 2023.
PMID: 37355983
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nanoNIPT: Short-fragment nanopore sequencing of cell-free DNA for non-invasive prenatal testing of fetal aneuploidies and sex chromosome aberrations.
Jørgensen MW, Miceikaitė I, Larsen MJ.
Jørgensen MW, et al. Among authors: miceikaite i.
Prenat Diagn. 2023 Mar;43(3):314-317. doi: 10.1002/pd.6331. Epub 2023 Feb 19.
Prenat Diagn. 2023.
PMID: 36774589
No abstract available.
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Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Miceikaite I, Bak GS, Larsen MJ, Kristiansen BS, Torring PM.
Miceikaite I, et al.
Clin Case Rep. 2021 Jul 21;9(7):e04507. doi: 10.1002/ccr3.4507. eCollection 2021 Jul.
Clin Case Rep. 2021.
PMID: 34306696
Free PMC article.
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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM.
Salian S, et al. Among authors: miceikaite i.
Clin Genet. 2021 Nov;100(5):607-614. doi: 10.1111/cge.14033. Epub 2021 Jul 29.
Clin Genet. 2021.
PMID: 34296759
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Total number of reads affects the accuracy of fetal fraction estimates in NIPT.
Miceikaitė I, Brasch-Andersen C, Fagerberg C, Larsen MJ.
Miceikaitė I, et al.
Mol Genet Genomic Med. 2021 Apr;9(4):e1653. doi: 10.1002/mgg3.1653. Epub 2021 Mar 9.
Mol Genet Genomic Med. 2021.
PMID: 33687149
Free PMC article.
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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Aagaard KS, Brusgaard K, Miceikaite I, Larsen MJ, Kjeldsen AD, Lester EB, Ousager LB, Tørring PM.
Aagaard KS, et al. Among authors: miceikaite i.
Mol Genet Genomic Med. 2020 Nov;8(11):e1498. doi: 10.1002/mgg3.1498. Epub 2020 Oct 15.
Mol Genet Genomic Med. 2020.
PMID: 33058509
Free PMC article.
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