Joana Silva-Figueiro

Schlieren, ZH, Switzerland

Last Updated: 09/26/2026

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Found 20 publications

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Journal: The Journal of clinical investigation
Published: June 09, 2025

CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.

CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.

Journal: Journal of cell science
Published: April 17, 2025

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines.

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines.

Journal: Stem cell research
Published: February 19, 2025

Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols.

Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols.

Journal: Frontiers in cell and developmental biology
Published: October 24, 2024

Pythia: Non-random DNA repair allows predictable CRISPR/Cas9 integration and gene editing.

Pythia: Non-random DNA repair allows predictable CRISPR/Cas9 integration and gene editing.

Journal: bioRxiv : the preprint server for biology
Published: October 10, 2024

Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates.

Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates.

Journal: Nature biotechnology
Published: August 19, 2024

Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer's Disease.

Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer's Disease.

Journal: Genes
Published: February 10, 2024

Unveiling DNA methylation in Alzheimer's disease: a review of array-based human brain studies.

Unveiling DNA methylation in Alzheimer's disease: a review of array-based human brain studies.

Journal: Neural regeneration research
Published: August 20, 2023

Disturbed circadian rhythm and retinal degeneration in a mouse model of Alzheimer's disease.

Disturbed circadian rhythm and retinal degeneration in a mouse model of Alzheimer's disease.

Journal: Acta neuropathologica communications
Published: January 26, 2023

Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer's disease.

Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer's disease.

Journal: Cellular and molecular life sciences : CMLS
Published: December 16, 2022

NCAM2 Regulates Dendritic and Axonal Differentiation through the Cytoskeletal Proteins MAP2 and 14-3-3.

NCAM2 Regulates Dendritic and Axonal Differentiation through the Cytoskeletal Proteins MAP2 and 14-3-3.

Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: August 06, 2019

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 27, 2018
Showing 1-12 of 20

Last Updated: 09/26/2026