Publications by authors named "Ieva Miceikaite"

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Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.
Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, Pernille M Torring, Britta Schlott Kristiansen

Nat Commun· August 2025

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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati

Breast Cancer Res· January 2024

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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Ieva Miceikaitė, Qin Hao, Charlotte Brasch-Andersen, Christina R Fagerberg, Pernille M Torring

N Engl J Med· November 2023

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Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, Pernille Mathiesen Torring, Britta Schlott Kristiansen

Prenat Diagn· August 2023

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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.
Maria Winther Jørgensen, Ieva Miceikaitė, Martin J Larsen

Prenat Diagn· March 2023

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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Ieva Miceikaite

Clin Genet· November 2021

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Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring

Clin Case Rep· July 2021

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Total number of reads affects the accuracy of fetal fraction estimates in NIPT.
Ieva Miceikaitė, Charlotte Brasch-Andersen, Christina Fagerberg, Martin Jakob Larsen

Mol Genet Genomic Med· April 2021

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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Katrine S Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J Larsen, Anette D Kjeldsen

Mol Genet Genomic Med· November 2020

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