Federico Santoni

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
  2021 L1 100/100

1 assessed by us (1 reproduced) · 162 not yet assessed — every PubMed paper on record, linked below.

• Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study ↗

  European Journal of Human Genetics · 2026 · PMID 41535479
  not yet assessed
• Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. ↗

  Open Access CRIS of the University of Bern · 2026
  not yet assessed
• COLSTATS: an interactive web platform for systematic colocalization of GWAS and QTL summary statistics ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2026
  not yet assessed
• Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study ↗

  2026
  not yet assessed
• Defective nitric oxide pathway signalling - a link between premature birth and altered mini-puberty? ↗

  Endocrine Abstracts · 2026
  not yet assessed
• Clinical and genetic basis of congenital gonadotropin deficiency ↗

  Human Reproduction Open · 2026 · PMID 41873429
  not yet assessed
• Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction and infertility ↗

  Theranostics · 2025 · PMID 40093908
  not yet assessed
• GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants ↗

  BMC Bioinformatics · 2025 · PMID 40804356
  not yet assessed
• Whole genome sequencing and single-cell transcriptomics identify KMT2D inactivation as a potential new driver for pituitary tumors: a case report ↗

  BJC Reports · 2025 · PMID 40523964
  not yet assessed
• Multiomics unravels the complexity of male obesity: a prospective observational study ↗

  Journal of Translational Medicine · 2025 · PMID 39885510
  not yet assessed
• GenMasterTable: A user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025
  not yet assessed
• Genetic basis of patients with congenital gonadotropin deficiency ↗

  Endocrine Abstracts · 2025
  not yet assessed
• Defective Nitric oxide pathway signalling - a link between premature birth and altered mini-puberty? ↗

  Endocrine Abstracts · 2025
  not yet assessed
• Clinical and Genetic Basis of Congenital Gonadotropin Deficiency ↗

  SSRN Electronic Journal · 2025
  not yet assessed
• Interdependent Dynamics of mRNA Expression and HIV-1 Viral Load: Insights from Transcriptomics and Mendelian Randomization ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025
  not yet assessed
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum ↗

  Nature Genetics · 2024 · PMID 38951643
  not yet assessed
• Fasting induces metabolic switches and spatial redistributions of lipid processing and neuronal interactions in tanycytes ↗

  Nature Communications · 2024 · PMID 39098920
  not yet assessed
• The genetic cause of neurodevelopmental disorders in 30 consanguineous families ↗

  Frontiers in Medicine · 2024 · PMID 39281811
  not yet assessed
• Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism ↗

  BMC Genomics · 2024 · PMID 39143522
  not yet assessed
• pyTWMR: transcriptome-wide Mendelian randomization in python ↗

  Bioinformatics · 2024 · PMID 39128017
  not yet assessed
• PD-L1 expression in PitNETs: Correlations with the 2022 WHO classification ↗

  Brain and Spine · 2024 · PMID 39845357
  not yet assessed
• Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum ↗

  Nature Genetics · 2024 · PMID 38982295
  not yet assessed
• Whole Genome Sequencing and single-cell transcriptomics identify <i>KMT2D</i> as a potential new driver for pituitary adenomas ↗

  medRxiv · 2024
  not yet assessed
• 7931 WBP11 as a Novel Candidate Gene for Congenital Hypopituitarism ↗

  Journal of the Endocrine Society · 2024
  not yet assessed
• Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum ↗

  UNC Libraries · 2024
  not yet assessed
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum ↗

  UNC Libraries · 2024
  not yet assessed
• PD-L1 Expression in Pituitary Neuroendocrine Tumors/Pituitary Adenomas ↗

  Cancers · 2023 · PMID 37760441
  not yet assessed
• Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees ↗

  Genes · 2023 · PMID 36833331
  not yet assessed
• Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• Pseudospatial transcriptional gradient analysis of hypothalamic ependymal cells: towards a new tanycyte classification ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• Supplementary Figures 1-5, Tables 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Supplementary Table 3 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Supplementary Figure Legends 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Supplementary Table 3 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Supplementary Figure Legends 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Supplementary Figures 1-5, Tables 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice ↗

  Yearbook of pediatric endocrinology · 2023
  not yet assessed
• Data from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• Data from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  2023
  not yet assessed
• GnRH replacement rescues cognition in Down syndrome ↗

  Science · 2022 · PMID 36048943
  not yet assessed
• <i>NOS1</i> mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice ↗

  Science Translational Medicine · 2022 · PMID 36197968
  not yet assessed
• Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Genome Medicine · 2022 · PMID 35953856
  not yet assessed
• CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications ↗

  Briefings in Bioinformatics · 2022 · PMID 35224620
  not yet assessed
• Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity ↗

  Scientific Reports · 2022 · PMID 35970867
  not yet assessed
• Unraveling the link between metabolism and reproduction in obese men ↗

  Endocrine Abstracts · 2022
  not yet assessed
• Nitric Oxide deficiency linking a defective minipuberty to the appearance of comorbidities: new therapeutic possibilities ↗

  Free Radical Biology and Medicine · 2022
  not yet assessed
• Additional file 2 of Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Open MIND · 2022
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

  Nature Communications · 2021 · PMID 34561431
  L1 100/100
• Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice ↗

  Molecular Metabolism · 2021 · PMID 34325016
  not yet assessed
• Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2 ↗

  Human Molecular Genetics · 2021 · PMID 33693784
  not yet assessed
• Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder ↗

  Genetics in Medicine · 2021 · PMID 33824500
  not yet assessed
• Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene ↗

  Endocrinology Diabetes and Metabolism Case Reports · 2021 · PMID 34152287
  not yet assessed
• CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ↗

  The American Journal of Human Genetics · 2020 · PMID 32738225
  not yet assessed
• Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature ↗

  Human Molecular Genetics · 2020 · PMID 32129449
  not yet assessed
• NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ↗

  The American Journal of Human Genetics · 2020 · PMID 33157009
  not yet assessed
• Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy ↗

  Diabetes · 2020 · PMID 32086287
  not yet assessed
• Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism ↗

  Genetics in Medicine · 2020 · PMID 32724172
  not yet assessed
• Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma ↗

  Haematologica · 2020 · PMID 32675224
  not yet assessed
• Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism ↗

  Yearbook of pediatric endocrinology · 2020
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome ↗

  medRxiv · 2020
  not yet assessed
• The role of gene expression on human sexual dimorphism: too early to call ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Identification, Characterization, and Treatment for a Taurine Transporter (SLC6A6) Variant Resulting in Taurine Deficiency and Pathologies in a Consanguineous Family. ↗

  The FASEB Journal · 2020
  not yet assessed
• Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cornelia de lange syndrome ↗

  Endocrine Abstracts · 2020
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  Nature Communications · 2019 · PMID 31341166
  not yet assessed
• Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency ↗

  Human Molecular Genetics · 2019 · PMID 31903486
  not yet assessed
• Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism ↗

  The American Journal of Human Genetics · 2019 · PMID 31883645
  not yet assessed
• Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance ↗

  Nature Communications · 2019 · PMID 31582743
  not yet assessed
• Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature ↗

  The American Journal of Human Genetics · 2019 · PMID 31607425
  not yet assessed
• Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features ↗

  The American Journal of Human Genetics · 2019 · PMID 31079899
  not yet assessed
• Exome sequencing identifies a de novo <i>FOXA2</i> variant in a patient with syndromic diabetes ↗

  Pediatric Diabetes · 2019 · PMID 30684292
  not yet assessed
• Cover Image, Volume 40, Issue 3 ↗

  Human Mutation · 2019
  not yet assessed
• Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma ↗

  medRxiv · 2019
  not yet assessed
• 28-OR: Genetic Landscape of Diabetes in the Swiss Population ↗

  Diabetes · 2019
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

  Data Archiving and Networked Services (DANS) · 2019
  not yet assessed
• Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures ↗

  European Journal of Endocrinology · 2018 · PMID 29419413
  not yet assessed
• Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts ↗

  Proceedings of the National Academy of Sciences · 2018 · PMID 30510006
  not yet assessed
• Biallelic variants in KIF14 cause intellectual disability with microcephaly ↗

  European Journal of Human Genetics · 2018 · PMID 29343805
  not yet assessed
• Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ↗

  The American Journal of Human Genetics · 2018 · PMID 30290152
  not yet assessed
• Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature ↗

  Human Molecular Genetics · 2018 · PMID 30481285
  not yet assessed
• Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 ↗

  Human Molecular Genetics · 2018 · PMID 29771303
  not yet assessed
• Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother ↗

  Journal of Human Genetics · 2018 · PMID 29717186
  not yet assessed
• Biallelic loss of function variants in <i>PPP1R21</i> cause a neurodevelopmental syndrome with impaired endocytic function ↗

  Human Mutation · 2018 · PMID 30520571
  not yet assessed
• Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression ↗

  The American Journal of Human Genetics · 2017 · PMID 28190458
  not yet assessed
• The effect of genetic variation on promoter usage and enhancer activity ↗

  Nature Communications · 2017 · PMID 29116076
  not yet assessed
• Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay ↗

  Genetics in Medicine · 2017 · PMID 28837161
  not yet assessed
• No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients ↗

  Translational Psychiatry · 2017 · PMID 28221368
  not yet assessed
• Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel ↗

  Swiss Medical Weekly · 2017 · PMID 29120028
  not yet assessed
• Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection ↗

  Genome Research · 2017 · PMID 29237728
  not yet assessed
• P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva ↗

  European Heart Journal · 2017
  not yet assessed
• Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma ↗

  Nature Genetics · 2016 · PMID 26950094
  not yet assessed
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia ↗

  The American Journal of Human Genetics · 2016 · PMID 26996948
  not yet assessed
• Human genome meeting 2016 ↗

  Human Genomics · 2016 · PMID 27294413
  not yet assessed
• Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders ↗

  Human Genomics · 2016 · PMID 27353043
  not yet assessed
• Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree ↗

  Human Genomics · 2016 · PMID 27421267
  not yet assessed
• Next Generation Sequencing for the Diagnosis of Monogenic Diabetes in Switzerland

  55th ESPE Meeting · 2016
  not yet assessed
• Prevalence of Monogenic Diabetes in the Lithuanian Pediatric and Young Adult Population ↗

  Lithuanian University of Health Sciences · 2016
  not yet assessed
• Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma

  Archive ouverte UNIGE (University of Geneva) · 2016
  not yet assessed
• Diagnosis of monogenic diabetes in the Lithuanian pediatric population

  Lithuanian University of Health Sciences · 2016
  not yet assessed
• HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation ↗

  Nature · 2015 · PMID 26416734
  not yet assessed
• A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) ↗

  Human Molecular Genetics · 2015 · PMID 25701871
  not yet assessed
• DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins ↗

  PLoS ONE · 2015 · PMID 26317209
  not yet assessed
• Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21 ↗

  Stem Cells · 2015 · PMID 25645121
  not yet assessed
• Galanin pathogenic mutations in temporal lobe epilepsy ↗

  Human Molecular Genetics · 2015 · PMID 25691535
  not yet assessed
• CATCHing putative causative variants in consanguineous families ↗

  BMC Bioinformatics · 2015 · PMID 26415661
  not yet assessed
• HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells ↗

  PLoS ONE · 2015 · PMID 25955728
  not yet assessed
• Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant ↗

  Hormone Research in Paediatrics · 2015 · PMID 26315042
  not yet assessed
• Perturbations of Heart Development and Function in Cardiomyocytes from hESC with Trisomy 21

  2015
  not yet assessed
• Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders ↗

  Genome Research · 2015 · PMID 25917818
  not yet assessed
• Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes ↗

  PLoS ONE · 2015 · PMID 26488584
  not yet assessed
• Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome ↗

  Nature · 2015 · PMID 26633627
  not yet assessed
• Improved Genetic Testing for Monogenic Diabetes in the Swiss Population by Targeted Next Generation Sequencing

  54th Annual ESPE · 2015
  not yet assessed
• Erratum ↗

  Hormone Research in Paediatrics · 2015
  not yet assessed
• Additional file 1: Figure S1. of CATCHing putative causative variants in consanguineous families ↗

  Figshare · 2015
  not yet assessed
• Additional file 1: Figure S1. of CATCHing putative causative variants in consanguineous families ↗

  Figshare · 2015
  not yet assessed
• Additional file 2: Table S1. of CATCHing putative causative variants in consanguineous families ↗

  Figshare · 2015
  not yet assessed
• Additional file 2: Table S1. of CATCHing putative causative variants in consanguineous families ↗

  Figshare · 2015
  not yet assessed
• Domains of genome-wide gene expression dysregulation in Down’s syndrome ↗

  Nature · 2014 · PMID 24740065
  not yet assessed
• Biased Allelic Expression in Human Primary Fibroblast Single Cells ↗

  The American Journal of Human Genetics · 2014 · PMID 25557783
  not yet assessed
• Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes ↗

  PLoS ONE · 2014 · PMID 25420024
  not yet assessed
• Extrachromosomal driver mutations in glioblastoma and low-grade glioma ↗

  Nature Communications · 2014 · PMID 25471132
  not yet assessed
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families ↗

  Human Mutation · 2014 · PMID 25044680
  not yet assessed
• 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 ↗

  PLoS Genetics · 2014 · PMID 24784881
  not yet assessed
• Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations ↗

  Nature Communications · 2014 · PMID 25105841
  not yet assessed
• Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia ↗

  Bone · 2014 · PMID 25180662
  not yet assessed
• Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 ↗

  Genomics Data · 2014 · PMID 26484098
  not yet assessed
• Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster ↗

  Genome Research · 2014 · PMID 24389049
  not yet assessed
• Next generation diagnostics on cardiomyopathy ↗

  Molecular Cytogenetics · 2014 · PMID 24949098
  not yet assessed
• A leu402pro Mutation of the Non-hla Gene il18rap in Aggressive Neonatal Type 1 Diabetes Mellitus

  53rd ESPE Meeting · 2014
  not yet assessed
• Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia ↗

  The American Journal of Human Genetics · 2013 · PMID 23891471
  not yet assessed
• Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 ↗

  EMBO Molecular Medicine · 2013 · PMID 24375627
  not yet assessed
• TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm ↗

  Retrovirology · 2013 · PMID 23414560
  not yet assessed
• Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome ↗

  Blood · 2013 · PMID 23733339
  not yet assessed
• Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders ↗

  Clinical Genetics · 2013 · PMID 23590259
  not yet assessed
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome ↗

  Genome Research · 2013 · PMID 23783273
  not yet assessed
• AN INTACT GENOME, ISOGENIC HIPSC MODEL FROM A MOSAIC DOWN SYNDROME INDIVIDUAL REVEALS NEUROGENESIS AND MITOCHONDRIAL DEFECTS CAUSED BY TRISOMY 21

  UCL Discovery (University College London) · 2013
  not yet assessed
• HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency ↗

  Retrovirology · 2012 · PMID 23253934
  not yet assessed
• A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas ↗

  Cancer Research · 2012 · PMID 23204322
  not yet assessed
• 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 ↗

  Nucleic Acids Research · 2012 · PMID 23234700
  not yet assessed
• 412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders ↗

  Archives of Disease in Childhood · 2012
  not yet assessed
• Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes

  Use Siena air (University of Siena) · 2012
  not yet assessed
• TRIM5 is an innate immune sensor for the retrovirus capsid lattice ↗

  Nature · 2011 · PMID 21512573
  not yet assessed
• Deciphering the code for retroviral integration site selection ↗

  Archive ouverte UNIGE (University of Geneva) · 2011
  not yet assessed
• Deciphering the Code for Retroviral Integration Target Site Selection ↗

  PLoS Computational Biology · 2010 · PMID 21124862
  not yet assessed
• A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture ↗

  PLoS ONE · 2010 · PMID 20454687
  not yet assessed
• GABAB receptor activation exacerbates spontaneous spike-and-wave discharges in DBA/2J mice ↗

  Seizure · 2010 · PMID 20233662
  not yet assessed
• Biodoop: Bioinformatics on Hadoop ↗

  2009
  not yet assessed
• Prospective isolation of functionally distinct radial glial subtypes—Lineage and transcriptome analysis ↗

  Molecular and Cellular Neuroscience · 2008 · PMID 18372191
  not yet assessed
• Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans ↗

  PLoS ONE · 2008 · PMID 18183308
  not yet assessed
• Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia ↗

  BMC Medical Genetics · 2008 · PMID 18205952
  not yet assessed
• Beta and Gamma Range EEG Power‐Spectrum Correlation with Spiking Discharges in DBA/2J Mice Absence Model: Role of GABA_B Receptors ↗

  Epilepsia · 2006 · PMID 16529610
  not yet assessed
• Increase in 20–50 Hz (gamma frequencies) power spectrum and synchronization after chronic vagal nerve stimulation ↗

  Clinical Neurophysiology · 2005 · PMID 16055378
  not yet assessed
• AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts ↗

  Nucleic Acids Research · 2005 · PMID 15980558
  not yet assessed
• Modificazione del segnale EEG nei topi DBA/2J dopo trattamento agonistico e antagonistico dei recettori GABAB

  Bollettino - Lega italiana contro l'epilessia · 2003
  not yet assessed
• Evidence of a kallikrein inhibitor in human kidney. A new ring of the kallikrein-renin-angiotensin-aldosterone chain. ↗

  PubMed · 1997 · PMID 9128066
  not yet assessed
• Parenteral magnesium sulphate restores regional contractile function in the post-ischaemic canine myocardium. ↗

  PubMed · 1994 · PMID 7786688
  not yet assessed
• [Water column microdepressometry: verification of the reliability of results with active anterior rhinomanometry]. ↗

  PubMed · 1987 · PMID 3468336
  not yet assessed
• [Effect of pantethine therapy in chronic uremic patients undergoing hemodialysis with type IV hyperlipoproteinemia]. ↗

  PubMed · 1986 · PMID 4065470
  not yet assessed
• [Rapid palate expansion. III: Impact on the nasal septum]. ↗

  PubMed · 1985 · PMID 6392860
  not yet assessed