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List of works by Elisa Frullanti

"Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

scientific article

A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A

scientific article

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

A polygenic model with common variants may predict lung adenocarcinoma risk in humans

article

AAV-mediated FOXG1 gene editing in human Rett primary cells

scientific article published on 15 June 2020

Alport syndrome: impact of digenic inheritance in patients management.

scientific article published on 8 November 2016

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

scientific article

Analysis of the Phenotypes in the Rett Networked Database

scientific article published on 27 March 2019

Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue

article

Authors' reply: Comment to "Vinyl chloride exposure and cirrhosis: a systematic review and meta-analysis".

scientific article published on 6 April 2013

Commentary: Potential Links between Hepadnavirus and Bornavirus Sequences in the Host Genome and Cancer

scientific article published in 2018

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

scientific article published on 10 December 2021

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

scientific article published on 3 September 2016

FGFR4 GLY388ARG polymorphism modulates cancer patients' survival in pooled analysis

scientific article

FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung.

scientific article published in June 2009

Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients.

scientific article published on 25 August 2013

Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer

scientific article published on 18 December 2009

Germline mutations in lung cancer and personalized medicine.

scientific article published on 15 September 2017

Germline polymorphisms and survival of lung adenocarcinoma patients: a genome-wide study in two European patient series.

scientific article published on 19 September 2014

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

scientific article published on 24 April 2020

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

scientific article published on 7 October 2015

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

scientific article published on 20 February 2018

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

scientific article published on 05 February 2019

Meta and pooled analyses of FGFR4 Gly388Arg polymorphism as a cancer prognostic factor.

scientific article

Mouse pulmonary adenoma susceptibility 1 locus is an expression QTL modulating Kras-4A

scientific article (publication date: April 2014)

Multiple Genetic Loci Modulate Lung Adenocarcinoma Clinical Staging

scientific article published on 17 January 2011

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

scientific article published on 21 November 2019

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

scientific article published on 4 June 2014

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.

scientific article published on 29 November 2017

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

scientific article published on 27 February 2016

Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5.

scientific article published on 23 August 2010

Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk.

scientific article published on 17 February 2009

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

scientific article published on 2 November 2017

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

scientific article published on 01 March 2019

Vinyl chloride exposure and cirrhosis: a systematic review and meta-analysis

scientific article published on 21 March 2012

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

scientific article published on 04 May 2018

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