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List of works by Eric Pasmant

"MPNST Epigenetics"-Letter

scientific article published on 01 October 2019

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

scientific article

A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin

scientific article published in May 2008

A severe neonatal presentation of factor II deficiency

scientific article published on 11 August 2011

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.

scientific article published on 18 October 2010

ANRILou l’étrange histoire d’un grand ARN non codant

scientific article published on 01 June 2010

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

scientific article published in Nature Communications

BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine

scientific article published on 01 May 2018

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

scientific article published on September 2017

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Chaperoning 5S RNA assembly

scientific article published in July 2015

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

scientific article published on 23 July 2008

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

scientific article

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options

article

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

scientific article published on 25 January 2017

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

scientific article published on 22 July 2016

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

scientific article published on 18 September 2009

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma

scientific article published on 6 December 2017

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors

scientific article published on 5 August 2010

Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.

scientific article

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

scientific article published on 31 January 2016

EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer

scientific article published on 13 March 2019

Expression of ANRIL-Polycomb Complexes-CDKN2A/B/ARF Genes in Breast Tumors: Identification of a Two-Gene (EZH2/CBX7) Signature with Independent Prognostic Value

scientific article

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.

scientific article

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

scientific article published on 12 October 2011

High Positive Correlations between ANRIL and p16-CDKN2A/p15-CDKN2B/p14-ARF Gene Cluster Overexpression in Multi-Tumor Types Suggest Deregulated Activation of an ANRIL-ARF Bidirectional Promoter

scientific article published on 21 August 2019

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas

scientific article published on 01 March 2016

Humanized Mouse Model to Study Type 1 Diabetes

scientific article published on 02 July 2018

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern

scientific article published on 21 March 2016

Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.

scientific article published on 10 September 2010

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.

scientific article published on 18 June 2014

Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis

scientific article

Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.

scientific article published on 19 January 2018

McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report

scientific article published on 01 December 2019

MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

scientific article

Mutations in SETD2 cause a novel overgrowth condition

scientific article published on 22 May 2014

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

scientific article

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

scientific article published on 26 August 2013

NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas

scientific article published on 14 June 2019

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

scientific article published on 29 January 2015

NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation

scientific article published on 20 December 2019

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View

scientific article published on 30 April 2016

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

scientific article

Neurofibromatosis type 1: from genotype to phenotype ⬇️

scientific article published on August 1, 2012

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy

scientific article published on 11 June 2015

One NF1 Mutation may Conceal Another

scientific article published on 22 August 2019

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

scientific article published on 13 August 2014

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression

scientific article published on 11 July 2019

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

publication published on 09 June 2021

Primary giant cell tumor of the common bile duct: No mutation H3F3A found.

scientific article

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

scientific article published on 28 March 2019

Proteome analysis of formalin-fixed paraffin-embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas

scientific article published on 15 December 2019

RAS MAPK inhibitors deregulation in leukemia

scientific article

RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action

scientific article

Relevance of MPNST cell lines as models for NF1 associated-tumors

scientific article published on 27 June 2013

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

scientific article

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

scientific article published on 17 June 2016

SPRED1 disorder and predisposition to leukemia in children.

scientific article

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

scientific article

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

scientific article published on 27 January 2014

Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAFV600E Melanoma Lines with Vemurafenib.

scientific article

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

scientific article published on 01 January 2020

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

article

Synovial Sarcomas Do Not Show H3K27 Trimethylation Loss Using Immunohistochemistry

scientific article published on 01 February 2017

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

scientific article

The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas

scientific article published on 25 March 2019

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

scientific article published on 11 November 2013

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

article

Unraveling the genetic predisposition of ribavirin-induced anaemia

scientific article published on 21 July 2010

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

scientific article published on 21 September 2015

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

scientific article published on 05 May 2009

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes

scientific article published on 31 October 2014

VKORC1 and CYP2C9 genetic polymorphisms in hepatic or portal vein thrombosis

scientific article published on 01 August 2010

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex]

scientific article published on 01 August 2014

[SUMMIT: a basket study scores points]

scientific article published on 01 November 2018

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