Laura E. Orec

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 8 publications

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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

PIGN encephalopathy: Characterizing the epileptology.

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Journal: Parkinsonism & related disorders

Published: June 29, 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Journal: Gene

Published: July 17, 2020

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Last Updated: 09/26/2026