List of works - Elisa Giorgio

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

scientific article published in July 2015

A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)

scientific article published on 30 November 2020

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

scientific article published on 20 February 2015

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

scientific article published in December 2015

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

scientific article published on 31 October 2014

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

scientific article published on 19 March 2015

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

scientific article published on 28 May 2013

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

scientific article published on 12 December 2015

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

Functional and clinical implications of genetic structure in 1686 Italian exomes

scientific article published on 16 December 2020

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

scientific article

Messenger RNA processing is altered in autosomal dominant leukodystrophy

scientific article published on 30 January 2015

Novel mutation of SLC20A2 in an Italian patient presenting with migraine

scientific article

O056. Migraine as presenting symptom of SLC20A2gene mutations

scientific article published on December 2015

Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment

scientific article published in January 2012

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

scientific article published on 17 February 2018

Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation

article

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

scientific article

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

scientific article published on 25 April 2016

List of works by Elisa Giorgio

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

ELOVL5 mutations cause spinocerebellar ataxia 38

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Functional and clinical implications of genetic structure in 1686 Italian exomes

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Messenger RNA processing is altered in autosomal dominant leukodystrophy

Novel mutation of SLC20A2 in an Italian patient presenting with migraine

O056. Migraine as presenting symptom of SLC20A2gene mutations

Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples