F. A. Santoni

Discipline

Anthropologie biologique (4) Science politique (1) Psychologie (1) Philosophie (1) Histoire, Philosophie et Sociologie des sciences (1) Géographie (1)

Type de document

Articles (23)

Co-auteur

Date

Source

Mot-clé

Human beings (14) analyse (9) Genes (9) Analysis (9) Phenotype (8) association (7) Social groups (7) gène (6) ADN (6) DNA (6) Manufacturers' agents (5) Commission merchants (5) roman (5) virus (4) protéine (4) règlement (4) abords (agglomération) (4) Transcription (4) Mice (4) Gene expression (4) Families (4) Expression (4) Example (4) Down syndrome (4) Algorithms (4) Disabilities (4) Regulation (4) Regions (4) Transcription (4) Family (4)

Documents écrit par F. A. Santoni (23) | parle de F. A. Santoni (0)

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
A.R. Rao et al. (3 févr. 2023)
Limited evidence for blood eQTLs in human sexual dimorphism.
E. Porcu et al. (11 août 2022)
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
M. Rapti et al. (10 mars 2022)
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
E. Porcu et al. (24 sept. 2021)
Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma.
C.W. Thorball et al. (1 août 2021)
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.
E. Porcu et al. (24 juil. 2019)
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
A.U. Rehman et al.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
D. Cassatella et al.
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
P. Makrythanasis et al.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
F. A. Santoni et al. (2016)
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
P. Makrythanasis et al. (2016)
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
H. Fairfield et al.
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
M. R. Sailani et al. (2015)
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
Y. Hibaoui et al.
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
F. A. Santoni et al.
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
Y. Hibaoui et al.
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
S. Nikolaev et al. (2014)
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
M. Guipponi et al. (2014)
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
M.R. Sailani et al. (2013)
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
F. A. Santoni (2013)
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency
F. A. Santoni et al. (2012)
TRIM5 is an innate immune sensor for the retrovirus capsid lattice
T. Pertel et al. (2011)
Deciphering the code for retroviral integration target site selection
F. A. Santoni et al. (2010)