List of works - Tommaso Pippucci

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

scientific article published on 18 January 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.

scientific article published on 18 June 2009

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

scientific article published on 19 February 2014

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

scientific article published on 3 May 2017

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

scientific article published on 13 October 2016

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

scientific article published on 10 October 2012

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

scientific article

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

scientific article

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

scientific article published on 4 November 2017

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

scientific article published on 06 April 2020

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 02 June 2020

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

scientific article

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

scientific article published on 24 April 2015

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

scientific article

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

scientific article published in February 2016

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

scientific article

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

scientific article published on 18 August 2011

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

scientific article

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

scientific article

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

scientific article published on 14 May 2015

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

scientific article published on 21 February 2018

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

scientific article published on 21 December 2011

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

scientific article published on 21 October 2015

GATOR1 complex: the common genetic actor in focal epilepsies

scientific article published on 19 May 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

scientific article

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

scientific article

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

scientific article published on 13 April 2015

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

scientific article published on July 2016

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

scientific article published on 29 October 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 ⬇️

scientific article published on 27 December 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 October 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article

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

scientific article published on 3 January 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 ⬇️

scientific article published on December 23, 2011

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

scientific article published on 07 September 2016

Reply to ten Kate et al ⬇️

scientific article published on July 17, 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

scientific article

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

scientific article published on 13 March 2013

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

scientific article published on 16 January 2014

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 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

scientific article published on 2 November 2017

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

scientific article published on 21 September 2017

List of works by 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.