Sabine Endele

Erlangen, BY, Germany

Last Updated: 09/26/2026

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Found 12 publications

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: October 18, 2021

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: March 12, 2021

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Journal: American journal of human genetics

Published: October 04, 2017

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

Journal: European journal of human genetics : EJHG

Published: March 17, 2015

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Journal: Human genetics

Published: December 02, 2014

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Journal: European journal of human genetics : EJHG

Published: April 11, 2014

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

Journal: European journal of human genetics : EJHG

Published: February 25, 2014

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Journal: American journal of human genetics

Published: January 29, 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Journal: European journal of human genetics : EJHG

Published: December 04, 2012

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

Journal: Behavioral and brain functions : BBF

Published: July 20, 2012

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Journal: Molecular syndromology

Published: February 02, 2012

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Journal: American journal of human genetics

Published: October 19, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026