Federico Santoni

Publications | Mémoires et thèses

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86 publications

En préparation
 
The role of gene expression on human sexual dimorphism: too early to call
Porcu Eleonora, Claringbould Annique, Lepik Kaido, Richardson Tom G., Santoni Federico A., Franke Lude, Reymond Alexandre, Kutalik Zoltán.
[DOI][serval:BIB_4D7CB0909A11]
2023
PD-L1 Expression in Pituitary Neuroendocrine Tumors/Pituitary Adenomas.
Cossu G., La Rosa S., Brouland J.P., Pitteloud N., Harel E., Santoni F., Brunner M., Daniel R.T., Messerer M., 2023/09/08. Cancers, 15 (18) p. 4471. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E351A399D475]
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao A.R., Nazir A., Imtiaz S., Paracha S.A., Waryah Y.M., Ujjan I.D., Anwar I., Iqbal A., Santoni F.A., Shah I. et al., 2023/02/03. Genes, 14 (2) p. 404. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C3E970170ABC]
2022
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K., Messina A., Delli V., Leysen V., Maurnyi C., Huber C., Ternier G., Skrapits K., Papadakis G., Shruti S. et al., 2022/10/05. Science translational medicine, 14 (665) pp. eabh2369. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_07E5C5166534]
 
GnRH replacement rescues cognition in Down syndrome.
Manfredi-Lozano M., Leysen V., Adamo M., Paiva I., Rovera R., Pignat J.M., Timzoura F.E., Candlish M., Eddarkaoui S., Malone S.A. et al., 2022/09/02. Science, 377 (6610) pp. eabq4515. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_58FCF069BC65]
Limited evidence for blood eQTLs in human sexual dimorphism.
Porcu E., Claringbould A., Weihs A., Lepik K., BIOS Consortium, Richardson T.G., Völker U., Santoni F.A., Teumer A., Franke L. et al., 2022/08/11. Genome medicine, 14 (1) p. 89. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4AC82BE10423]
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Rapti M., Zouaghi Y., Meylan J., Ranza E., Antonarakis S.E., Santoni F.A., 2022/03/10. Briefings in bioinformatics, 23 (2) pp. bbac049. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0D3665C835DD]
2021
 
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis S.E., Holoubek A., Rapti M., Rademaker J., Meylan J., Iwaszkiewicz J., Zoete V., Wilson C., Taylor J., Ansar M. et al., 2021/12/17. Human molecular genetics, 31 (1) pp. 1-9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_67FE6F734917]
 
Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice.
Rohrbach A., Caron E., Dali R., Brunner M., Pasquettaz R., Kolotuev I., Santoni F., Thorens B., Langlet F., 2021/11. Molecular metabolism, 53 p. 101311. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_569B8719E376]
 
Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice.
Rohrbach A., Caron E., Dali R., Brunner M., Pasquettaz R., Kolotuev I., Santoni F., Thorens B., Langlet F., 2021/11. Molecular metabolism, 53 p. 101311. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FB786377EBF6]
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
Porcu E., Sadler M.C., Lepik K., Auwerx C., Wood A.R., Weihs A., Sleiman MSB, Ribeiro D.M., Bandinelli S., Tanaka T. et al., 2021/09/24. Nature communications, 12 (1) p. 5647. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_253FEBED3C3F]
Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma.
Thorball C.W., Oudot-Mellakh T., Ehsan N., Hammer C., Santoni F.A., Niay J., Costagliola D., Goujard C., Meyer L., Wang S.S. et al., 2021/08/01. Haematologica, 106 (8) pp. 2233-2241. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B72746EA3CA7]
 
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla D.L., Farazi Fard M.A., Tabatabaei Z., Habibzadeh P., Levchenko O.A., Nikuei P., Makrythanasis P., Hussain M., von Hardenberg S., Zeinali S. et al., 2021/07. Genetics in medicine, 23 (7) pp. 1246-1254. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CB1B9259E590]
Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
Marino L., Messina A., S Acierno J., Phan-Hug F., J Niederländer N., Santoni F., La Rosa S., Pitteloud N., 2021/06/01. Endocrinology, diabetes & metabolism case reports, 2021 (1). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5EFE487E7386]
2020
 
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H., Zhang Q., Dai R., Yu B., Hoekzema K., Tan J., Tan S., Jia X., Chung W.K., Hernan R. et al., 2020/11/05. American journal of human genetics, 107 (5) pp. 963-976. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_285CADE327AD]
 
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno J.S., Xu C., Papadakis G.E., Niederländer N.J., Rademaker J.D., Meylan J., Messina A., Kolesinska Z., Quinton R., Lang-Muritano M. et al., 2020/11. Genetics in medicine, 22 (11) pp. 1759-1767. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DD363A0A5D79]
 
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A., Efthymiou S., O'Connor E., Mendes M.I., Jennings M., Maroofian R., Davagnanam I., Mankad K., Lopez M.R., Salpietro V. et al., 2020/08/06. American journal of human genetics, 107 (2) pp. 311-324. Peer-reviewed.
[DOI][Pmid][serval:BIB_C9F64A97AE52]
 
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M., Ebstein F., Özkoç H., Paracha S.A., Iwaszkiewicz J., Gesemann M., Zoete V., Ranza E., Santoni F.A., Sarwar M.T. et al., 2020/05/08. Human molecular genetics, 29 (7) pp. 1132-1143. Peer-reviewed.
[DOI][Pmid][serval:BIB_7528AD86E93D]
 
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.
Stankute I., Verkauskiene R., Blouin J.L., Klee P., Dobrovolskiene R., Danyte E., Dirlewanger M., Santoni F., Razanskaite-Virbickiene D., Marciulionyte D. et al., 2020/05. Diabetes, 69 (5) pp. 1065-1071. Peer-reviewed.
[DOI][Pmid][serval:BIB_693B19CAC175]
 
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Ansar M., Ranza E., Shetty M., Paracha S.A., Azam M., Kern I., Iwaszkiewicz J., Farooq O., Pournaras C.J., Malcles A. et al., 2020/03/13. Human molecular genetics, 29 (4) pp. 618-623. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7146D72E2133]
 
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Messina A., Pulli K., Santini S., Acierno J., Känsäkoski J., Cassatella D., Xu C., Casoni F., Malone S.A., Ternier G. et al., 2020/01/02. American journal of human genetics, 106 (1) pp. 58-70. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_42DF4A84796E]
 
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Messina Andrea, Pulli Kristiina, Santini Sara, Acierno James, Känsäkoski Johanna, Cassatella Daniele, Xu Cheng, Casoni Filippo, Conte Daniele, Malone Samuel A. et al., 2020/01. The American Journal of Human Genetics, 106 (1) pp. 58-70. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3475FDA95309]
2019
 
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M., Chung H.L., Al-Otaibi A., Elagabani M.N., Ravenscroft T.A., Paracha S.A., Scholz R., Abdel Magid T., Sarwar M.T., Shah S.F. et al., 2019/11/07. American journal of human genetics, 105 (5) pp. 907-920. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8CED6D5E768A]
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Stamoulis G., Garieri M., Makrythanasis P., Letourneau A., Guipponi M., Panousis N., Sloan-Béna F., Falconnet E., Ribaux P., Borel C. et al., 2019/10/03. Nature communications, 10 (1) p. 4495. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1AC470E44968]
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.
Porcu E., Rüeger S., Lepik K., eQTLGen Consortium, BIOS Consortium, Santoni F.A., Reymond A., Kutalik Z., 2019/07/24. Nature communications, 10 (1) p. 3300. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5BC4DEF5ED27]
 
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M., Ullah F., Paracha S.A., Adams D.J., Lai A., Pais L., Iwaszkiewicz J., Millan F., Sarwar M.T., Agha Z. et al., 2019/06/06. American journal of human genetics, 104 (6) pp. 1073-1087. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_29D795794213]
 
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
Stekelenburg C., Gerster K., Blouin J.L., Lang-Muritano M., Guipponi M., Santoni F., Schwitzgebel V.M., 2019/05. Pediatric diabetes, 20 (3) pp. 366-369. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0E99AC9E5418]
 
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M., Paracha S.A., Serretti A., Sarwar M.T., Khan J., Ranza E., Falconnet E., Iwaszkiewicz J., Shah S.F., Qaisar A.A. et al., 2019/03/15. Human molecular genetics, 28 (6) pp. 972-979. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CC3DB25E32E9]
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Rehman A.U., Najafi M., Kambouris M., Al-Gazali L., Makrythanasis P., Rad A., Maroofian R., Rajab A., Stark Z., Hunter J.V. et al., 2019/03. Human mutation, 40 (3) pp. 267-280. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_02BDC16E8839]
2018
 
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Garieri M., Stamoulis G., Blanc X., Falconnet E., Ribaux P., Borel C., Santoni F., Antonarakis S.E., 2018/12/18. Proceedings of the National Academy of Sciences of the United States of America, 115 (51) pp. 13015-13020. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3DBC9F9CC6B5]
 
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Ansar M., Chung H.L., Taylor R.L., Nazir A., Imtiaz S., Sarwar M.T., Manousopoulou A., Makrythanasis P., Saeed S., Falconnet E. et al., 2018/10/04. American journal of human genetics, 103 (4) pp. 568-578. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC45AA4ECA51]
 
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar M., Riazuddin S., Sarwar M.T., Makrythanasis P., Paracha S.A., Iqbal Z., Khan J., Assir M.Z., Hussain M., Razzaq A. et al., 2018/07. Genetics in medicine, 20 (7) pp. 778-784. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D7BE05010980]
 
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother
Lambert N., Dauve C., Ranza E., Makrythanasis P., Santoni F., Sloan-Bena F., Gimelli S., Blouin J. L., Guipponi M., Bottani A. et al., 2018/07. J Hum Genet, 63 (7) pp. 847-850.
[DOI][Pmid][serval:BIB_E094089EE077]
 
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
Cassatella Daniele, Howard Sasha R, Acierno James S, Xu Cheng, Papadakis Georgios E, Santoni Federico A, Dwyer Andrew A, Santini Sara, Sykiotis Gerasimos P, Chambion Caroline et al., 2018/04. European Journal of Endocrinology, 178 (4) pp. 377-388.
[DOI][WoS][Pmid][serval:BIB_334A063EB536]
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D., Howard S.R., Acierno J.S., Xu C., Papadakis G.E., Santoni F.A., Dwyer A.A., Santini S., Sykiotis G.P., Chambion C. et al., 2018/04. European journal of endocrinology, 178 (4) pp. 377-388. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_92D278111021]
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis P., Maroofian R., Stray-Pedersen A., Musaev D., Zaki M.S., Mahmoud I.G., Selim L., Elbadawy A., Jhangiani S.N., Coban Akdemir Z.H. et al., 2018/03. European journal of human genetics, 26 (3) pp. 330-339. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C00D344B1BA2]
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Popadin K., Peischl S., Garieri M., Sailani M.R., Letourneau A., Santoni F., Lukowski S.W., Bazykin G.A., Nikolaev S., Meyer D. et al., 2018. GenomeRresearch, 28 (1) pp. 1-10. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E72B848928F3]
 
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
Ansar M., Chung H., Waryah Y. M., Makrythanasis P., Falconnet E., Rao A. R., Guipponi M., Narsani A. K., Fingerhut R., Santoni F. A. et al., 2018. Hum Mol Genet.
[DOI][Pmid][serval:BIB_C89006510686]
2017
 
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
Santoni F. A., Stamoulis G., Garieri M., Falconnet E., Ribaux P., Borel C., Antonarakis S. E., 2017. Am J Hum Genet, 100 (3) pp. 444-453.
[DOI][Pmid][serval:BIB_4F2E7D3FC568]
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients
Guipponi M., Santoni F., Schneider M., Gehrig C., Bustillo X. B., Kates W. R., Morrow B., Armando M., Vicari S., Sloan-Bena F. et al., 2017. Transl Psychiatry, 7 (2) pp. e1039.
[URN][DOI][Pmid][serval:BIB_925353CB8757]
 
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Kherra S., Blouin J.L., Santoni F., Schwitzgebel V., 2017. Swiss medical weekly, 147 pp. w14535. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D3DBA904770F]
The effect of genetic variation on promoter usage and enhancer activity.
Garieri M., Delaneau O., Santoni F., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A., 2017. Nature Communications, 8 (1) p. 1358. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B40AB423111C]
2016
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Makrythanasis P., Guipponi M., Santoni F. A., Zaki M., Issa M. Y., Ansar M., Hamamy H., Antonarakis S. E., 2016. Hum Genomics, 10 (1) p. 26.
[URN][DOI][Pmid][serval:BIB_AF21F258E20A]
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Santoni F. A., Fokstuen S., Makrythanasis P., Hammar E., Guipponi M., Ranza E., Varvagiannis K., Albarca-Aguilera M., Poleggi M. E., Couchepin F. et al., 2016. Hum Genomics, 10 (1) p. 24.
[URN][DOI][Pmid][serval:BIB_0FE0F3AADB02]
 
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Makrythanasis P., Kato M., Zaki M. S., Saitsu H., Nakamura K., Santoni F. A., Miyatake S., Nakashima M., Issa M. Y., Guipponi M. et al., 2016. Am J Hum Genet, 98 (4) pp. 615-26.
[DOI][Pmid][serval:BIB_26981FA4B21E]
2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
Fairfield H., Srivastava A., Ananda G., Liu R., Kircher M., Lakshminarayana A., Harris B. S., Karst S. Y., Dionne L. A., Kane C. C. et al., 2015/07. Genome Res, 25 (7) pp. 948-57.
[URN][DOI][Pmid][serval:BIB_A983BC8132D9]
 
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21
Bosman A., Letourneau A., Sartiani L., Del Lungo M., Ronzoni F., Kuziakiv R., Tohonen V., Zucchelli M., Santoni F., Guipponi M. et al., 2015/05. Stem Cells, 33 (5) pp. 1434-46.
[DOI][Pmid][serval:BIB_EC1E9E764A6B]
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Giorgio E., Robyr D., Spielmann M., Ferrero E., Di Gregorio E., Imperiale D., Vaula G., Stamoulis G., Santoni F., Atzori C. et al., 2015. Hum Mol Genet, 24 (11) pp. 3143-54.
[URN][DOI][Pmid][serval:BIB_683F5A0EB797]
 
Biased allelic expression in human primary fibroblast single cells
Borel C., Ferreira P. G., Santoni F., Delaneau O., Fort A., Popadin K. Y., Garieri M., Falconnet E., Ribaux P., Guipponi M. et al., 2015. Am J Hum Genet, 96 (1) pp. 70-80.
[DOI][Pmid][serval:BIB_0A5D9FE4DCCF]
 
CATCHing putative causative variants in consanguineous families
Santoni F. A., Makrythanasis P., Antonarakis S. E., 2015..
[serval:BIB_9779B593FB30]
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
Sailani M. R., Santoni F. A., Letourneau A., Borel C., Makrythanasis P., Hibaoui Y., Popadin K., Bonilla X., Guipponi M., Gehrig C. et al., 2015. PLoS One, 10 (8) pp. e0135555.
[URN][DOI][Pmid][serval:BIB_279CA7B2A57C]
Galanin pathogenic mutations in temporal lobe epilepsy.
Guipponi M., Chentouf A., Webling K.E., Freimann K., Crespel A., Nobile C., Lemke J.R., Hansen J., Dorn T., Lesca G. et al., 2015. Human Molecular Genetics, 24 (11) pp. 3082-3091. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8679EB1FCBD3]
 
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant
Anderson de la Llana S., Klee P., Santoni F., Stekelenburg C., Blouin J. L., Schwitzgebel V. M., 2015. Horm Res Paediatr.
[DOI][Pmid][serval:BIB_29C7F36DF135]
 
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation
Rosa A., Chande A., Ziglio S., De Sanctis V., Bertorelli R., Goh S. L., McCauley S. M., Nowosielska A., Antonarakis S. E., Luban J. et al., 2015. Nature, 526 (7572) pp. 212-7.
[DOI][Pmid][serval:BIB_8E3742B0C835]
 
HIV-1Nef promotes infection by excluding SERINC5 from virion incorporation
Rosa A., Chande A., Ziglio S., De Sanctis V., Bertorelli R., Shih Lin Goh., McCauley M., Nowosielska A., Antonarakis SE., Luban J. et al., 2015. Nature.
[serval:BIB_7339FD0B6008]
 
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells
Letourneau A., Cobellis G., Fort A., Santoni F., Garieri M., Falconnet E., Ribaux P., Vannier A., Guipponi M., Carninci P. et al., 2015. PLoS One, 10 (5) pp. e0126475.
[DOI][Pmid][serval:BIB_50E7EC8F6FA5]
2014
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
Hibaoui Y., Grad I., Letourneau A., Santoni F. A., Antonarakis S. E., Feki A., 2014/12. Genom Data, 2 pp. 226-9.
[URN][DOI][Pmid][serval:BIB_A23A9263C1AC]
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
Callier P., Calvel P., Matevossian A., Makrythanasis P., Bernard P., Kurosaka H., Vannier A., Thauvin-Robinet C., Borel C., Mazaud-Guittot S. et al., 2014/05. PLoS Genet, 10 (5) pp. e1004340.
[URN][DOI][Pmid][serval:BIB_359C54BAB25D]
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
Hibaoui Y., Grad I., Letourneau A., Sailani M. R., Dahoun S., Santoni F. A., Gimelli S., Guipponi M., Pelte M. F., Bena F. et al., 2014/02. EMBO Mol Med, 6 (2) pp. 259-77.
[URN][DOI][Pmid][serval:BIB_7387E90C888C]
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
Santoni F. A., Makrythanasis P., Nikolaev S., Guipponi M., Robyr D., Bottani A., Antonarakis S. E., 2014/02. Genome Res, 24 (2) pp. 349-55.
[URN][DOI][Pmid][serval:BIB_F69325586088]
 
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Makrythanasis P., Nelis M., Santoni F. A., Guipponi M., Vannier A., Bena F., Gimelli S., Stathaki E., Temtamy S., Megarbane A. et al., 2014. Hum Mutat.
[DOI][Pmid][serval:BIB_D078D41DBD88]
 
Domains of genome-wide gene expression dysregulation in Down's syndrome
Letourneau A., Santoni F. A., Bonilla X., Sailani M. R., Gonzalez D., Kind J., Chevalier C., Thurman R., Sandstrom R. S., Hibaoui Y. et al., 2014. Nature, 508 (7496) pp. 345-50.
[DOI][Pmid][serval:BIB_0A3CB6D69862]
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
Guipponi M., Santoni F. A., Setola V., Gehrig C., Rotharmel M., Cuenca M., Guillin O., Dikeos D., Georgantopoulos G., Papadimitriou G. et al., 2014. PLoS One, 9 (11) pp. e112745.
[URN][DOI][Pmid][serval:BIB_ECD6A8B34B8B]
 
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
Gannage-Yared M. H., Makrythanasis P., Chouery E., Sobacchi C., Mehawej C., Santoni F. A., Guipponi M., Antonarakis S. E., Hamamy H., Megarbane A., 2014. Bone, 68C pp. 142-145.
[DOI][Pmid][serval:BIB_37B778BC3458]
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Nikolaev S., Santoni F. A., Garieri M., Makrythanasis P., Falconnet E., Guipponi M., Vannier A., Radovanovic I., Bena F., Forestier F. et al., 2014. Nat Commun, 5 p. 5690.
[URN][DOI][Pmid][serval:BIB_2020490DD5CB]
 
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
Nikolaev S. I., Garieri M., Santoni F., Falconnet E., Ribaux P., Guipponi M., Murray A., Groet J., Giarin E., Basso G. et al., 2014. Nat Commun, 5 p. 4654.
[DOI][Pmid][serval:BIB_3EBCB8EAFAE2]
 
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.
Fokstuen S., Makrythanasis P., Nikolaev S., Santoni F., Robyr D., Munoz A., Bevillard J., Farinelli L., Iseli C., Antonarakis S.E. et al., 2014. Clinical Genetics, 85 (4) pp. 365-370.
[DOI][WoS][Pmid][serval:BIB_EF428E0A4CED]
Next generation diagnostics on cardiomyopathy
Blouin J. L., Bevillard J., Makrythanasis P., Guipponi M., Santoni F., Antonarakis S. E., Fokstuen S., 2014. Mol Cytogenet, 7 (Suppl 1 Proceedings of the International Conference on Human) pp. I4.
[URN][DOI][Pmid][serval:BIB_AF468C6A08D8]
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
Santoni F. A., 2013. Nucleic Acids Res, 41 (3) pp. e48.
[URN][DOI][Pmid][serval:BIB_8C0E255D3C1D]
 
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
Nikolaev S. I., Santoni F., Vannier A., Falconnet E., Giarin E., Basso G., Hoischen A., Veltman J. A., Groet J., Nizetic D. et al., 2013. Blood, 122 (4) pp. 554-61.
[DOI][Pmid][serval:BIB_3903B652C0FB]
 
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore D. J., Onoufriadis A., Shoemark A., Simpson M. A., Zur Lage P. I., de Castro S. C., Bartoloni L., Gallone G., Petridi S., Woollard W. J. et al., 2013. Am J Hum Genet, 93 (2) pp. 346-56.
[serval:BIB_7FDFEEBBA0F9]
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Sailani M.R., Makrythanasis P., Valsesia A., Santoni F.A., Deutsch S., Popadin K., Borel C., Migliavacca E., Sharp A.J., Duriaux Sail G. et al., 2013. Genome Research, 23 (9) pp. 1410-1421.
[URN][DOI][WoS][Pmid][serval:BIB_F56CAF52E2BB]
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
De Iaco A., Santoni F., Vannier A., Guipponi M., Antonarakis S., Luban J., 2013. Retrovirology, 10 p. 20.
[URN][DOI][Pmid][serval:BIB_732D90A06060]
2012
 
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas
Nikolaev S. I., Sotiriou S. K., Pateras I. S., Santoni F., Sougioultzis S., Edgren H., Almusa H., Robyr D., Guipponi M., Saarela J. et al., 2012. Cancer Res, 72 (23) pp. 6279-89.
[serval:BIB_5C53C54FF39E]
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency
Santoni F. A., Guerra J., Luban J., 2012. Retrovirology, 9 p. 111.
[URN][DOI][Pmid][serval:BIB_399D531E89DD]
2011
TRIM5 is an innate immune sensor for the retrovirus capsid lattice
Pertel T., Hausmann S., Morger D., Zuger S., Guerra J., Lascano J., Reinhard C., Santoni F. A., Uchil P. D., Chatel L. et al., 2011. Nature, 472 (7343) pp. 361-5.
[URN][DOI][Pmid][serval:BIB_7316B7F571A9]
2010
 
GABAB receptor activation exacerbates spontaneous spike-and-wave discharges in DBA/2J mice
Bortolato M., Frau R., Orru M., Fa M., Dessi C., Puligheddu M., Barberini L., Pillolla G., Polizzi L., Santoni F. et al., 2010/05. Seizure, 19 (4) pp. 226-31.
[DOI][Pmid][serval:BIB_EA1B957FC004]
A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture
Morelli L., Contu D., Santoni F., Whalen M. B., Francalacci P., Cucca F., 2010. PLoS One, 5 (4) pp. e10419.
[URN][DOI][Pmid][serval:BIB_F9E5E2D387C8]
Deciphering the code for retroviral integration target site selection
Santoni F. A., Hartley O., Luban J., 2010. PLoS Comput Biol, 6 (11) pp. e1001008.
[URN][DOI][Pmid][serval:BIB_355C2C6C4713]
2009
 
Biodoop: Bioinformatics on hadoop
Santoni Federico, 2009. dans Proceedings of the International Conference on Parallel Processing Workshops.
[DOI][serval:BIB_E8A27642A678]
2008
 
Prospective isolation of functionally distinct radial glial subtypes--lineage and transcriptome analysis
Pinto L., Mader M. T., Irmler M., Gentilini M., Santoni F., Drechsel D., Blum R., Stahl R., Bulfone A., Malatesta P. et al., 2008/05. Mol Cell Neurosci, 38 (1) pp. 15-42.
[DOI][Pmid][serval:BIB_1198C6E2984A]
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia
Pitzalis M., Zavattari P., Murru R., Deidda E., Zoledziewska M., Murru D., Moi L., Motzo C., Orru V., Costa G. et al., 2008. BMC Med Genet, 9 p. 3.
[URN][DOI][Pmid][serval:BIB_B731D83E9943]
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans
Contu D., Morelli L., Santoni F., Foster J. W., Francalacci P., Cucca F., 2008. PLoS One, 3 (1) pp. e1430.
[URN][DOI][Pmid][serval:BIB_A2FBE974935A]
2006
 
Beta and gamma range EEG power-spectrum correlation with spiking discharges in DBA/2J mice absence model: role of GABA receptors
Marrosu F., Santoni F., Fa M., Puligheddu M., Barberini L., Genugu F., Frau R., Manunta M., Mereu G., 2006/03. Epilepsia, 47 (3) pp. 489-94.
[DOI][Pmid][serval:BIB_BC10D62BA47C]
2005
 
Increase in 20-50 Hz (gamma frequencies) power spectrum and synchronization after chronic vagal nerve stimulation
Marrosu F., Santoni F., Puligheddu M., Barberini L., Maleci A., Ennas F., Mascia M., Zanetti G., Tuveri A., Biggio G., 2005/09. Clin Neurophysiol, 116 (9) pp. 2026-36.
[DOI][Pmid][serval:BIB_0FEB3B639C7F]
AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts
Lavorgna G., Triunfo R., Santoni F., Orfanelli U., Noci S., Bulfone A., Zanetti G., Casari G., 2005. Nucleic Acids Res, 33 (Web Server issue) pp. W665-8.
[URN][DOI][Pmid][serval:BIB_A90618315C4A]
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