List of works - Robert Huether

C11ORF95-RELA FUSIONS DRIVE ONCOGENIC NF-KB SIGNALING IN EPENDYMOMA.

scientific article published in July 2014

C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma

scientific article

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

scientific article published on 11 August 2016

De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

scientific article published on 18 December 2017

Determining structure and function of steroid dehydrogenase enzymes by sequence analysis, homology modeling, and rational mutational analysis

scientific article

Erratum: Corrigendum: C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma

scholarly article published in Nature

Evolution of bacterial ribosomal protein L1

scientific article published on January 1, 2012

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

scientific article

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

scientific article published on 6 September 2016

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

scientific article published on 5 November 2015

Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia

scientific article

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

scientific article

Novel mutations target distinct subgroups of medulloblastoma.

scientific article

PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia.

scientific article published on 8 April 2015

RB1 gene inactivation by chromothripsis in human retinoblastoma

scientific article published on January 2014

Rational genomics I: antisense open reading frames and codon bias in short-chain oxido reductase enzymes and the evolution of the genetic code

scientific article

Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1

scientific article published on 17 April 2007

Sequence fingerprint and structural analysis of the SCOR enzyme A3DFK9 from Clostridium thermocellum

scientific article

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

scientific article

Structure/function of human type 1 3beta-hydroxysteroid dehydrogenase: An intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for substrate and coenzyme utilization

scientific article published on 25 May 2007

Survival analysis of infected mice reveals pathogenic variations in the genome of avian H1N1 viruses

scientific article

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

scientific article

The genomic landscape of core-binding factor acute myeloid leukemias

scientific article

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

scientific article

The genomic landscape of hypodiploid acute lymphoblastic leukemia

scientific article published on 20 January 2013

The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes.

scientific article

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias

scientific article

The short-chain oxidoreductase Q9HYA2 from Pseudomonas aeruginosa PAO1 contains an atypical catalytic center

scientific article

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

scientific article published on 14 April 2013

List of works by Robert Huether

C11ORF95-RELA FUSIONS DRIVE ONCOGENIC NF-KB SIGNALING IN EPENDYMOMA.

C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

Determining structure and function of steroid dehydrogenase enzymes by sequence analysis, homology modeling, and rational mutational analysis

Erratum: Corrigendum: C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma

Evolution of bacterial ribosomal protein L1

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

Novel mutations target distinct subgroups of medulloblastoma.

PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia.

RB1 gene inactivation by chromothripsis in human retinoblastoma

Rational genomics I: antisense open reading frames and codon bias in short-chain oxido reductase enzymes and the evolution of the genetic code

Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1

Sequence fingerprint and structural analysis of the SCOR enzyme A3DFK9 from Clostridium thermocellum

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

Structure/function of human type 1 3beta-hydroxysteroid dehydrogenase: An intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for substrate and coenzyme utilization

Survival analysis of infected mice reveals pathogenic variations in the genome of avian H1N1 viruses

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

The genomic landscape of core-binding factor acute myeloid leukemias

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

The genomic landscape of hypodiploid acute lymphoblastic leukemia

The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes.

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias

The short-chain oxidoreductase Q9HYA2 from Pseudomonas aeruginosa PAO1 contains an atypical catalytic center

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas