Agatha D. Schluter

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 97 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Journal: Aging cell

Published: May 10, 2024

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Journal: Nature communications

Published: February 08, 2024

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: Genome medicine

Published: January 06, 2024

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Journal: Brain : a journal of neurology

Published: October 02, 2023

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Journal: European journal of neurology

Published: June 04, 2023

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Journal: Science (New York, N.Y.)

Published: December 20, 2022

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: medRxiv : the preprint server for health sciences

Published: November 03, 2022

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: Genome medicine

Published: September 15, 2022

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

Journal: The Journal of clinical investigation

Published: June 17, 2022

Showing 1-12 of 97

Last Updated: 09/26/2026