EDIR: exome database of interspersed repeats
Vo Ngoc et al. 2022, Bioinformatics
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The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells
Andrews et al. 2022, Cell Stem Cell...
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ESHRE survey results and good practice recommendations on managing chromosomal mosaicism
ESHRE Working Group on Chromosomal Mosaicism et al. 2022, Human Reproduction Open
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On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle
Regin et al. 2022, Molecular Human Reproduction
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Measuring Early Germ-Layer Specification Bias in Human Pluripotent Stem Cells
Alex Keller, Nusa Krivec, Claudia Spits, Stem Cell Assays pp 57–72
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Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
Rijckmans et al. 2022, European Journal of Paediatric Neurology
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, Potelle and Yildirim et al. 2022, American Journal of Human Genetics
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Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
Franck et al. 2022, Biology Open
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Undetectable viral RNA in follicular fluid, cumulus cells and endometrial tissue samples in SARS-CoV-2 positive women
Boudry and Essahib et al. 2022, Fertility and Sterility
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Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally
Mertens et al. 2022, Molecular Human Genetics
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SARS-CoV-2 host receptors ACE2 and CD147 (BSG) are present on human oocytes and blastocysts
Essahib et al. 2020, Journal of Assisted Reproduction and genetics
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Gains of 12p13.31 delay WNT-mediated initiation of hPSC differentiation and promote residual pluripotency in a cell cycle dependent manner
Keller et al. 2021, biorxiv
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