Maureen H. Jacob

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 20 publications

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Journal: Clinical genetics

Published: July 08, 2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Journal: Human mutation

Published: April 21, 2026

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Journal: EBioMedicine

Published: March 17, 2026

Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsy.

Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 27, 2025

Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.

Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.

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

Published: April 24, 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology

Published: February 21, 2025

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: November 22, 2024

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 07, 2024

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: May 31, 2024

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

Journal: Neuropediatrics

Published: March 28, 2024

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Last Updated: 09/26/2026