Barbara Jaschkowitz-Oehl

Homburg, SL, Germany

Last Updated: 09/26/2026

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Found 27 publications

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics

Published: August 28, 2023

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: Nature communications

Published: August 09, 2023

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

Journal: Pediatric neurology

Published: November 07, 2022

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 21, 2022

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Journal: Klinische Padiatrie

Published: June 08, 2021

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Published: February 25, 2020

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 31, 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 10, 2018

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Journal: Clinical genetics

Published: May 15, 2018

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Journal: Journal of medical genetics

Published: December 01, 2017

Showing 1-12 of 27

Last Updated: 09/26/2026