Santoni, Federico | Archive ouverte UNIGE

Title	Published in	Year	Views	Downloads
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity	Scientific reports	2022	238	263
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics	2020	422	1
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	85	174
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	469	594
The effect of genetic variation on promoter usage and enhancer activity	Nature Communications	2017	381	230
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	639	227
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel	Swiss Medical Weekly	2017	529	256
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	664	549
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	565	362
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	755	364
Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma	Human genome meeting 2016	2016	14	38
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Nature genetics	2016	893	8
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	620	0
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	697	366
Galanin pathogenic mutations in temporal lobe epilepsy	Human molecular genetics	2015	565	0
CATCHing putative causative variants in consanguineous families	BMC bioinformatics	2015	633	225
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	618	0
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Genome research	2015	561	2
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	674	478
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation	Nature	2015	571	0
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Stem cells	2015	742	642
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant	Hormone research in paediatrics	2015	582	2
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	688	226
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders	Clinical genetics	2014	758	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	710	4
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	718	2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	678	0
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	PloS one	2014	778	539
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	736	343
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Genomics data	2014	571	1
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	781	297
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	EMBO molecular medicine	2014	761	606
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	657	244
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	627	0
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	758	741
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm	Retrovirology	2013	627	410
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	American journal of human genetics	2013	596	0
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome	Blood	2013	688	0
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Cancer research	2012	727	1
TRIM5 is an innate immune sensor for the retrovirus capsid lattice	Nature	2011	539	1
Deciphering the code for retroviral integration site selection		2011	1,699	108
Deciphering the code for retroviral integration target site selection	PLoS computational biology	2010	704	323