Ruxandra Bachmann-Gagescu

Medical Genetics | Pediatrics

University Of Washington
1705 Ne Pacific Street, K253, Box 357720
Seattle, WA 98195

Last Updated: 09/26/2026

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Found 49 publications

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.

Journal: Journal of cell science

Published: October 27, 2025

BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors.

BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors.

Journal: bioRxiv : the preprint server for biology

Published: August 06, 2025

Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings.

Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: July 22, 2025

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

Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies.

Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies.

Journal: Molecular systems biology

Published: May 19, 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

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.

Journal: Genome biology

Published: January 08, 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

Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction.

Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction.

Journal: eLife

Published: October 10, 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

Showing 1-12 of 49

Last Updated: 09/26/2026