Bachmann-Gagescu Group - Publications
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Publications
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Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols Frontiers in Cell and Developmental Biology, 13:1516596.
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Characterisation of Developing Brain’s Morphology and White Matter Microstructure in Congenital Disorders: From the Thalamus to Whole Brain Structure 2025, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
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The primary cilium gene CPLANE1 is required for peripheral nervous system development Developmental Biology, 519:106-121.
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97(1):76-89.
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Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system Biology Open, 13(11):bio060421.
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Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction eLife, 13:RP96831.
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Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes International Journal of Molecular Sciences, 25(17):9569.
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Primary Cilia are Important for Neural Circuit Formation in the Peripheral Nervous System 2024, University of Zurich, Faculty of Science.
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Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort International Journal of Molecular Sciences, 25(6540):6540.
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Monogenic Disease Variants in the Swiss Kidney Stone Cohort and Stone-Free Controls: TH-PO460 Journal of the American Society of Nephrology (JASN), 34, 218–218. doi:10.1681/asn.20233411s1218a
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies European Journal of Human Genetics, 31(8):953-961.
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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons Human Molecular Genetics, 32(13):2192-2204.
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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder medRxiv 23290941, Cold Spring Harbor Laboratory.
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype American Journal of Human Genetics, 110(2):215-227.
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Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease In: Iomini, Carlo; Sun, Yang . Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.
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Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition Nature Communications, 13:1282.
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Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype medRxiv 22279724, Cold Spring Harbor Laboratory.
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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome Frontiers in Genetics, 13:939527.
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Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases Journal of Cell Science, 134(14):jcs258568.