Lista de obras - Tommaso Pippucci - Dominio Público Uruguay

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

artículo científico publicado en 2017

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

artículo científico publicado en 2009

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

artículo científico publicado en 2014

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

artículo científico publicado en 2017

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

artículo científico publicado en 2016

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

artículo científico publicado en 2012

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

artículo científico publicado en 2013

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

artículo científico publicado en 2013

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation

artículo científico publicado en 2017

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

artículo científico publicado en 2020

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

artículo científico publicado en 2014

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

artículo científico publicado en 2014

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

artículo científico publicado en 2020

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

artículo científico publicado en 2017

Characterization and identification of hidden rare variants in the human genome.

artículo científico publicado en 2015

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

artículo científico publicado en 2016

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 mutations in epilepsy with auditory features

artículo científico publicado en 2016

Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies

artículo científico publicado en 2014

EX-HOM (EXome HOMozygosity): a proof of principle

artículo científico publicado en 2011

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

artículo científico publicado en 2013

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

artículo científico publicado en 2016

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

artículo científico publicado en 2015

Epilepsy with auditory features: Long-term outcome and predictors of terminal remission

artículo científico publicado en 2018

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

artículo científico publicado en 2011

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

artículo científico publicado en 2015

GATOR1 complex: the common genetic actor in focal epilepsies

artículo científico publicado en 2016

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

scientific article published on 11 April 2017

H3M2: detection of runs of homozygosity from whole-exome sequencing data

artículo científico publicado en 2014

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

artículo científico publicado en 2015

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

artículo científico publicado en 2015

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?

publication published on 08 December 2020

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

artículo científico publicado en 2017

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

artículo científico publicado en 2015

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

artículo científico publicado en 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

artículo científico publicado en 2015

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

artículo científico publicado en 2018

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

scientific article published on 30 April 2018

Read count approach for DNA copy number variants detection ⬇️

artículo científico publicado el 23 de diciembre de 2011

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

Reply to ten Kate et al ⬇️

artículo científico publicado el 17 de julio de 2013

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

artículo científico publicado en 2018

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

artículo científico publicado en 2013

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

artículo científico publicado en 2014

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

artículo científico publicado en 2017

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

artículo científico publicado en 2017

Lista de obras de Tommaso Pippucci

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

Characterization and identification of hidden rare variants in the human genome.

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

DEPDC5 mutations in epilepsy with auditory features

Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies

EX-HOM (EXome HOMozygosity): a proof of principle

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Epilepsy with auditory features: Long-term outcome and predictors of terminal remission

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

GATOR1 complex: the common genetic actor in focal epilepsies

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

H3M2: detection of runs of homozygosity from whole-exome sequencing data

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

Read count approach for DNA copy number variants detection ⬇️

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Reply to ten Kate et al ⬇️

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

The landscape of epilepsy-related GATOR1 variants

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.