List of works - Silke Appenzeller

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

scientific article

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

scientific article published in January 2010

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

scientific article published on 20 November 2013

Differential aggregation properties of alpha-synuclein isoforms

scientific article published on 19 February 2014

Early onset of diffuse melanosis cutis under pembrolizumab therapy illustrates the limitations of anti-PD-1 checkpoint inhibitors

scientific article published on 01 October 2018

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.

scientific article

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

scientific article published on 7 July 2016

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

scientific article

Hypermethylation of the non-imprinted maternal MEG3 and paternal MEST alleles is highly variable among normal individuals

scientific article published on 30 August 2017

Immunoglobulin rearrangement analysis from multiple lesions in the same patient using next-generation sequencing.

scientific article published on 18 April 2015

Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1)

scientific article published on 19 June 2018

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

scientific article published on 23 December 2015

Mutations in HTRA2 are not a common cause of familial classic ET.

scientific article published on 13 May 2015

Myeloid differentiation primary response 88 mutations in a distinct type of cutaneous marginal-zone lymphoma with a nonclass-switched immunoglobulin M immunophenotype.

scientific article

No association between NOD2 variants and Parkinson's disease

scientific article published on 13 July 2012

No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients

scientific article published on 19 January 2012

Novel genomic techniques open new avenues in the analysis of monogenic disorders ⬇️

scientific article published on February 1, 2011

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.

scientific article published on 23 February 2018

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

scientific journal article

Polyomavirus-Positive Merkel Cell Carcinoma Derived from a Trichoblastoma Suggests an Epithelial Origin of this Merkel Cell Carcinoma

scientific article published on 22 November 2019

Recurrent oncogenic JAK and STAT alterations in cutaneous CD30-positive lymphoproliferative disorders

scientific article published on 05 March 2020

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients

scientific article published on 25 April 2018

Single-cell RNA-seq ties macrophage polarization to growth rate of intracellular Salmonella.

scientific article published on 14 November 2016

The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas

scientific article published on 18 December 2018

Two sets of identical twins with cervical artery dissection concordant for temporal artery pathology

scientific article published on 01 September 2008

Whole transcriptome profiling reveals the RNA content of motor axons

scientific article published on 12 October 2015

hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate the axonal transcriptome of motoneurons

scientific article published on 5 March 2018

List of works by Silke Appenzeller

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

Differential aggregation properties of alpha-synuclein isoforms

Early onset of diffuse melanosis cutis under pembrolizumab therapy illustrates the limitations of anti-PD-1 checkpoint inhibitors

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Hypermethylation of the non-imprinted maternal MEG3 and paternal MEST alleles is highly variable among normal individuals

Immunoglobulin rearrangement analysis from multiple lesions in the same patient using next-generation sequencing.

Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1)

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

Mutations in HTRA2 are not a common cause of familial classic ET.

Myeloid differentiation primary response 88 mutations in a distinct type of cutaneous marginal-zone lymphoma with a nonclass-switched immunoglobulin M immunophenotype.

No association between NOD2 variants and Parkinson's disease

No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients

Novel genomic techniques open new avenues in the analysis of monogenic disorders ⬇️

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

Polyomavirus-Positive Merkel Cell Carcinoma Derived from a Trichoblastoma Suggests an Epithelial Origin of this Merkel Cell Carcinoma

Recurrent oncogenic JAK and STAT alterations in cutaneous CD30-positive lymphoproliferative disorders

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients

Single-cell RNA-seq ties macrophage polarization to growth rate of intracellular Salmonella.

The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas

Two sets of identical twins with cervical artery dissection concordant for temporal artery pathology

Whole transcriptome profiling reveals the RNA content of motor axons

hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate the axonal transcriptome of motoneurons