a public good project by the
Synthesis
Company
of California

© 2026

Sabine Endele | doi.page

0 works0 citations0 h-index

Sabine Endele

Friedrich-Alexander-Universität Erlangen-Nürnberg(DE)Universitätsklinikum Erlangen(DE)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromatin Remodeling and Cancer, Genomics and Rare Diseases, Genomics and Chromatin Dynamics

Most-Cited Works

→ Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
→ Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
→ Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability(2012)264 cited
→ LETM1, deleted in Wolf Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability(2007)188 cited
→ LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients(1999)154 cited
→ Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome(2014)143 cited

→ LETM1, a gene deleted in Wolf–Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein(2003)

104 cited

→ De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females(2014)92 cited

→ Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome(2018)80 cited

→ Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models(2009)80 cited