Lista de obras - Federico A Santoni - Dominio Público Uruguay

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

artículo científico publicado en 2012

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

artículo científico publicado en 2015

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.

artículo científico publicado en 2005

Beta and gamma range EEG power-spectrum correlation with spiking discharges in DBA/2J mice absence model: role of GABA receptors.

artículo científico publicado en 2006

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

artículo científico publicado en 2018

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

scientific article published on 09 May 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

artículo científico publicado en 2019

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

scientific article published on 01 March 2019

Biallelic variants in KIF14 cause intellectual disability with microcephaly

artículo científico publicado en 2018

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

Biased allelic expression in human primary fibroblast single cells

artículo científico publicado en 2014

CATCHing putative causative variants in consanguineous families

artículo científico publicado en 2015

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

artículo científico publicado en 2018

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

artículo científico publicado en 2015

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

artículo científico publicado en 2014

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

artículo científico publicado en 2017

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

artículo científico publicado en 2014

EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and to identify H3R2me1 as a distinctive mark of coding versus non-coding genes

artículo científico publicado en 2012

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

artículo científico publicado en 2016

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

artículo científico publicado en 2019

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

scientific article published on 30 August 2014

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

artículo científico publicado en 2015

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

artículo científico publicado en 2016

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

scientific article published on 03 December 2018

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

artículo científico publicado en 2014

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

artículo científico publicado en 2014

Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant.

artículo científico publicado en 2015

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

artículo científico publicado en 2016

HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency.

artículo científico publicado en 2012

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

artículo científico publicado en 2015

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

artículo científico publicado en 2015

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

artículo científico publicado en 2014

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

artículo científico publicado en 2019

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

artículo científico publicado en 2013

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

artículo científico publicado en 2013

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

artículo científico publicado en 2013

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

artículo científico publicado en 2017

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

artículo científico publicado en 2018

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

artículo científico publicado en 2016

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

artículo científico publicado en 2017

Prospective isolation of functionally distinct radial glial subtypes--lineage and transcriptome analysis.

artículo científico publicado en 2008

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

artículo científico publicado en 2014

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

scientific article published on 03 October 2019

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

artículo científico publicado en 2017

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

artículo científico publicado en 2013

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

artículo científico publicado en 2013

The effect of genetic variation on promoter usage and enhancer activity

artículo científico publicado en 2017

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

artículo científico publicado en 2018

Lista de obras de Federico A Santoni

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

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

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.

Beta and gamma range EEG power-spectrum correlation with spiking discharges in DBA/2J mice absence model: role of GABA receptors.

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Biased allelic expression in human primary fibroblast single cells

CATCHing putative causative variants in consanguineous families

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and to identify H3R2me1 as a distinctive mark of coding versus non-coding genes

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant.

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency.

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

Prospective isolation of functionally distinct radial glial subtypes--lineage and transcriptome analysis.

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

The effect of genetic variation on promoter usage and enhancer activity

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3