Fabian Kilpert

Essen, NW 45122, Germany

Last Updated: 09/26/2026

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Found 24 publications

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 06, 2025

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 06, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 09, 2024

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Journal: Frontiers in genetics

Published: July 29, 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

RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation.

RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation.

Journal: Cancers

Published: March 11, 2022

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.

Journal: Nature communications

Published: September 24, 2020

Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology.

Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology.

Journal: Journal of Alzheimer's disease : JAD

Published: August 25, 2020

Pathophysiological subtypes of Alzheimer's disease based on cerebrospinal fluid proteomics.

Pathophysiological subtypes of Alzheimer's disease based on cerebrospinal fluid proteomics.

Journal: Brain : a journal of neurology

Published: March 23, 2020

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset.

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset.

Journal: Translational psychiatry

Published: March 06, 2020

EOMES and IL-10 regulate antitumor activity of T regulatory type 1 CD4+ T cells in chronic lymphocytic leukemia.

EOMES and IL-10 regulate antitumor activity of T regulatory type 1 CD4+ T cells in chronic lymphocytic leukemia.

Journal: Leukemia

Published: February 14, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026