Diana Braunholz

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 18 publications

Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.

Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.

Journal: Oncogene
Published: December 22, 2020

Preclinical models of head and neck squamous cell carcinoma for a basic understanding of cancer biology and its translation into efficient therapies.

Preclinical models of head and neck squamous cell carcinoma for a basic understanding of cancer biology and its translation into efficient therapies.

Journal: Cancers of the head & neck
Published: March 25, 2020

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

Journal: PLoS genetics
Published: January 04, 2017

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Journal: Human genetics
Published: November 16, 2016

Spheroid Culture of Head and Neck Cancer Cells Reveals an Important Role of EGFR Signalling in Anchorage Independent Survival.

Spheroid Culture of Head and Neck Cancer Cells Reveals an Important Role of EGFR Signalling in Anchorage Independent Survival.

Journal: PloS one
Published: March 14, 2016

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Journal: Clinical genetics
Published: October 07, 2015

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

Journal: BioMed research international
Published: October 03, 2015

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Journal: Clinical genetics
Published: December 17, 2014

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Journal: Human mutation
Published: December 09, 2014

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

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Journal: Human mutation
Published: June 02, 2014

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Journal: Biochimica et biophysica acta
Published: May 11, 2014
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Last Updated: 09/26/2026