Department of Medical Sciences

• Best oral presentation young researchers, SIGU Conference, online, 2021
• Charles J. Epstein Trainee Awards Finalist, ASHG Conference, online, 2021
• Research Grants - One-Year Grants for Doctoral Candidates, Deutscher Akademischer Austauschdienst, ref. no.: 91781256, 2020-21
• Best poster, SIGU Conference, online, 2020

• Participant in the PRIN project 2020 (2022-2025): Unveiling the hidden side of NEUrodevelopmental DIsorder Genetics (NEUDIG): a multidisciplinary pathway to new molecular diagnoses by integrating genomic, transcriptomic, and functional analyses.
• Leading in the project CAPRIN1-related neurodevelopmental disorders: searching for impaired pathways and for therapeutic approaches, funded by Fondazione Rulfo (2020-2022)
• Participant in the NeuroWES project, in collaboration with ASC, Mount Sinai Hspital New York, USA.
• PhD candidate in project “Dipartimenti di Eccellenza 2018-2022”, Department of Medical Sciences, University of Turin.

Angelini, A. Alfieri, I. Russo, A. Morellato, L. Pavinato, S. Marchi, P. Pinton, E. Turco, P. Defilippi; “p140Cap and Synaptic Plasticity through the interaction with NMDA receptor”; 2-6th July 2016, FENS Forum of Neuroscience, Copenhagen (Denmark)

Angelini, A. Alfieri, I. Russo, A. Morellato, L. Pavinato, S. Marchi, P. Pinton, E. Turco, P. Defilippi; “p140Cap and Synaptic Plasticity through the interaction with NMDA receptor”; 7-9th April 2016, ABCD National Meeting, Salerno (Italy)

Angelini, A. Alfieri, A. Morellato, L. Pavinato, T. Cravero, E.Turco, P. Defilippi; “p140Cap controls Synaptic Plasticity through its interactions with NMDA Receptor”; 1-4th October 2017, SINS Congress, Ischia (Italy)

Morellato, A. Alfieri, C. Angelini, L. Pavinato, P. Mele, D. Gavello, N. El-Assawi, A. Mauro, E. Carbone, C. Eva, E.Turco, P. Defilippi; “Characterization of the Skt gene in the synapse: behavioural studies and analysis of synaptic complexes”; 4-6th December 2017, 6th European Synapse Meeting, Milan (Italy)

Angelini, A. Alfieri, A. Morellato, L. Pavinato, T. Cravero, E.Turco, P. Defilippi; “p140Cap controls Synaptic Plasticity through its interactions with NMDA Receptor”; 4-6th December 2017, 6th European Synapse Meeting, Milan (Italy)

Morellato, A. Alfieri, C. Angelini, L. Pavinato, T. Cravero, F. Torelli, P. Mele, D. Gavello, N. El-Assawi, A. Mauro, E. Carbone, C. Eva, E.Turco, P. Defilippi; “Characterization of the Skt gene in the synapse: behavioural studies and analysis of synaptic complexes”; 7-11th July 2018, FENS Forum of Neuroscience, Berlin (Germany)

Angelini, A. Alfieri, A. Morellato, L. Pavinato, T. Cravero, A. Raspanti, M. Giustetto, D. Valdembri, G. Serini, E.Turco, P. Defilippi; “p140Cap modulates GluN2A containing NMDAR recruitment to synaptic lipid rafts”; 2^nd-4^th September 2019, European Synapse Meeting, Lausanne (Switzerland)

Morellato, A. Alfieri, C. Angelini, L. Pavinato, T. Cravero, F. Torelli, P. Mele, D. Gavello, N. El-Assawi, A. Mauro, E. Carbone, C. Eva, E.Turco, P. Defilippi; “Characterization of the Skt gene in the synapse: behavioural studies and analysis of synaptic complexes”; 2^nd-4^th September 2019, European Synapse Meeting, Lausanne (Switzerland)

Pavinato L., Giorgio E., Antona V., Carli D., Ranguin K., Colson C., De Rubeis S., Pippucci T., Dimartino P., Scaramuzzino M., Cardaropoli S., Ciolfi A., Radio C., Buxbaum J., Tartaglia M., Brusco A.; “Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity”; 15-18^th June 2019, European Scoiety of Human Genetics Conference, Gothenburg (Sweden)

Brusco , L. Pavinato , E. Giorgio , D. Carli , V. Salpietro , I. van de Laar , J.L. Howe , E. Di Gregorio , S.W. Scherer , G.B. Ferrero; "De novo loss-of-function variants in CAPRIN1 in patients affected by severe autism and language delay”; 15-19^th October 2019, American Society of Human Genetics, Houston, Texas (USA)

Carli, E. Giorgio, L. Pavinato, S. Cardaropoli, A. Mussa, E. Riberi, A. Pelle, G. Mandrile, V. Antona, L. Sorasio, E. Biamino, E. F. Belligni, F. Sirchia, I. Bagnasco, C. Arduino, G. Zacchetti, G. Gai, E. Grosso, S. De Rubeis, A. Brusco, G. B. Ferrero; “Family-based whole exome sequencing allows a 20% diagnostic yield in patients with isolated autism spectrum disorders”; 15-19^th October 2019, American Society of Human Genetics, Houston, Texas (USA)

Di Gregorio E., Manes M., Hoxha E., Ferrero M., Tripathy D., Di Campli A., Pavinato L., Costanzi C., Giorgio E., Pozzi E., Mitro N., Basso M., Sallese M., Caruso D., Tempia F., Brusco A., Borroni B.; “Translating molecular pathology into a therapeutic strategy in SCA38, a newly identified form of spinocerebellar ataxia.”; 28-30^th October 2019, Telethon Convention, Riva Del Garda, Trento (Italy)

 

Dentelli, M. Massussi, E. Giorgio, E. Pozzi, L. Pavinato, M. Ferrero, B. Pasini, A. Brusco, G. Avruscio; “Extensive arterial calcifications of the lower limbs in an adult woman associated with mutation in the NT5E gene”; 13^rd-15^th November 2019, Società Italiana Genetica Umana, Rome (Italy)

Carli, E. Giorgio, L. Pavinato, E. Riberi, P. Dimartino, A. Bruselles, S. Cardaropoli, A. Mussa, , A. Pelle, G. Mandrile, V. Antona, L. Sorasio, E. Biamino, E. F. Belligni, F. Sirchia, I. Bagnasco, C. Arduino, G. Zacchetti, V. G. Naretto, G. Gai, A. Zonta, E. Grosso, C. Davico, R. Keller, T. Pippucci, M. Tartaglia, S. De Rubeis, A. Brusco, G. B. Ferrero; “Family-based whole exome sequencing allows a 27% diagnostic yield in patients with autism spectrum disorder”, 13^rd-15^th November 2019, Società Italiana Genetica Umana, Rome (Italy)

Pavinato, E. Giorgio, D. Carli , V. Salpietro , I. van de Laar , , E. Di Gregorio, J.L. Howe, E. Agolini, A. Novelli, D.A. Coviello, S.W. Scherer, G.B. Ferrero; “De novo and inherited CAPRIN1 variants in patients affected by severe autism and language delay”; 13^rd-15^th November 2019, Società Italiana Genetica Umana, Rome (Italy)

Benetti E., Cannone MG., Lopergolo D., Currò A., Privitera F., Valentino F., Fallerini C., Giliberti A., Furini S., Mari F., Canitano R., Carli D., Giorgio E., Pavinato L., Di Gregorio E., Buxbaum J. D., De Rubeis S., Brusco A., Ferrero GB., Renieri A.; "Exome and CNV analysis: gender differences in Autism Spectrum Disorder”; 13^rd-15^th November 2019, Società Italiana Genetica Umana, Rome (Italy)

Dentelli, S. Cavalieri, E. Giorgio, M. Ferrone, E. Pozzi, L. Pavinato, M. Ferrero, A. Zonta, C. Mancini, C. Canavese, C. Graziano, L. Orsi, S. Gallone, B. Pasini, A. Brusco.; “A first-tier 42-gene panel in the genetic diagnosis of hereditary ataxias”; 13^rd-15^th November 2019, Società Italiana Genetica Umana, Rome (Italy)

Pavinato, J.L. Howe, D. Carli, E. Agolini, D. A. Coviello, I.M.B.H van de Laar, P-Y B. Au, E. Di Gregorio, E. Giogio, E. Pozzi, M. Ferrero, S. Cardaropoli, A. Delle Vedove, V. Salpietro, F. Zara, A. Novelli, B. Wirth, S.W. Scherer, A. Brusco; “Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance”; 6-9^th June 2020, European Society of Human Genetics Conference, virtual.

Carli, E. Giorgio, L. Pavinato, E. Riberi, P. Dimartino, A. Bruselles, S. Cardaropoli, A. Mussa, A. Pelle, G. Mandrile, V. Antona, L. Sorasio, E. Biamino, E. F. Belligni, V. Rizzo, F. Sirchia, I. Bagnasco, G. Zacchetti, V.G. Naretto, G.Gai, A. Zonta, E. Grosso, C. Davico, R. Keller, T. Pippucci, M. Tartaglia, S. De Rubeis, A. Brusco, G. B. Ferrero; “Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder”, 6-9^th June 2020, European Society of Human Genetics Conference, virtual.

Pavinato, M. Villamor-Payà, M. Sanchiz-Calvo, C. Andreoli, S. Martinelli, E. Giorgio, D. Carli, V. Antona, K. Ranguin, C. Colson, S. De Rubeis, A. Bruselles, T. Pippucci, P. Dimartino, M. Scaramuzzino, A. Ciolfi, C. Radio, J. Buxbaum, G. B. Ferrero, M. Tartaglia, T. H. Stracker, A. Brusco; “TLK2-associated intellectual disability: expanding the disease phenotype and characterizing missense variants at the molecular level”; 6-9^th June 2020, European Society of Human Genetics Conference, virtual.

Moroni, D. Carli^­­­, E. Giorgio, F. Sirchia, L. Pavinato, S. Cardaropoli, P. Dimartino, A. Mussa, T. Pipucci, S. De Rubeis, A. Brusco, G. B. Ferrero; “SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician.”; 6-9^th June 2020, European Society of Human Genetics Conference, virtual.

Pavinato, M. Villamor-Payà, M. Sanchiz-Calvo, C. Andreoli, M. Gay, M. Vilaseca, G. Arauz-Garofalo, A. Ciolfi, A. Bruselles, T. Pippucci, V. Prota, D. Carli, E. Giorgio, F.C. Radio, V. Antona, M. Giuffrè, K. Ranguin, C. Colson, S. De Rubeis, P. Dimartino, J. Buxbaum, G.B. Ferrero, M. Tartaglia, T. H. Stracker, A. Brusco; “Functional analysis of TLK2 variants and proximal interactome support a pathogenic mechanism based on impaired kinase activity causing alteration of chromatin stability pathways.” ; 27^th-31^st October 2020, American Society of Human Genetics Conference, virtual.

 

Pavinato, M. Villamor-Payà, M. Sanchiz-Calvo, C. Andreoli, M. Gay, M. Vilaseca, G. Arauz-Garofalo, A. Ciolfi, A. Bruselles, T. Pippucci, V. Prota, D. Carli, E. Giorgio, F.C. Radio, V. Antona, M. Giuffrè, K. Ranguin, C. Colson, S. De Rubeis, P. Dimartino, J. Buxbaum, G.B. Ferrero, M. Tartaglia, T. H. Stracker, A. Brusco; “Functional analysis of TLK2 variants and proximal interactome support a pathogenic mechanism based on impaired kinase activity causing alteration of chromatin stability pathways.” ; 11-13^rd November 2020, Società Italiana Genetica Umana, virtual. Best poster award.

 

Pavinato, M. Villamor-Payà, M. Sanchiz-Calvo, C. Andreoli, M. Gay, M. Vilaseca, G. Arauz-Garofalo, A. Ciolfi, A. Bruselles, T. Pippucci, V. Prota, D. Carli, E. Giorgio, F.C. Radio, V. Antona, M. Giuffrè, K. Ranguin, C. Colson, S. De Rubeis, P. Dimartino, J. Buxbaum, G.B. Ferrero, M. Tartaglia, T. H. Stracker, A. Brusco; “Functional analysis of TLK2 variants and proximal interactome support a pathogenic mechanism based on impaired kinase activity causing alteration of chromatin stability pathways.” ; 12-15^th June 2021, European Society of Human Genetics Conference, virtual.

 

Pavinato, A. Delle Vedove, D. Carli, M. Ferrero, S. Carestiato, J. L. Howe, E. Agolini, D. A. Coviello, I. van de Laar, P.-Y. Billie Au, E. Di Gregorio, F. Alessandra, S. Croci, M. Mencarelli, L. P. Bruno, A. Renieri, R. van Jaarsveld, A.Childers, A. Novelli, G. B. Ferrero, S. W. Scherer, B. Wirth, A. Brusco; “CAPRIN1 haploinsufficiency causes a novel neurodevelopmental disorder associated with morphological and functional impairment inhiPSCs-derived cortical neurons”, 18^th-22^nd October 2021, American Society of Human Genetics Conference, virtual. Selected for oral presentation; Charles J. Epstein Award finalist.

Giovenino, L. Pavinato, S. Trajkova, S. Cardaropoli, V. Pullano, S. Carestiato, P. Salmin, D. Carli, A. Mussa, S. De Rubeis, J. D. Buxbaum, G. Mandrile, G. Ferrero, A. Brusco; “Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation for X-linked genes.” 18^th-22^nd October 2021, American Society of Human Genetics Conference, virtual.

Pavinato, J. Stanic, M. Barzasi, I. Eberini, E. Biamino, M. Spada, S.M. Hiatt, F. Gardoni, A. Brusco; “Rabphilin 3A (RPH3A), a synaptic protein involved in neurotransmission, is a novel candidate gene for neurodevelopmental disorders.” 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

 

Pavinato, A. Delle Vedove, D. Carli, M. Ferrero, S. Carestiato, J. L. Howe, E. Agolini, D. A. Coviello, I. van de Laar, P.-Y. Billie Au, E. Di Gregorio, F. Alessandra, S. Croci, M. Mencarelli, L. P. Bruno, A. Renieri, R. van Jaarsveld, A.Childers, A. Novelli, G. B. Ferrero, S. W. Scherer, B. Wirth, A. Brusco; “CAPRIN1 haploinsufficiency causes a novel neurodevelopmental disorder associated with morphological and functional impairment inhiPSCs-derived cortical neurons”, 17-19^th November 2021, Società Italiana Genetica Umana, virtual. Selected for oral presentation; Nicola Migone Award.

Giovenino, L. Pavinato, S. Trajkova, S. Cardaropoli, V. Pullano, S. Carestiato, P. Salmin, D. Carli, A. Mussa, S. De Rubeis, J. D. Buxbaum, G. Mandrile, G. Ferrero, A. Brusco; “Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation for X-linked genes.” 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

 

Giovenino, S. Trajkova, V. Pullano, S. Cardaropoli, S. Carestiato, L. Pavinato, Y. Yakymiv, E. Ortolan, A. Funaro, E. Giorgio, A. Brusco; “Multipotent stem cells from human exfoliated deciduous teeth: an innovative in vitro model to study neurodevelopmental disorders”; 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

Pullano, A. Brussino, M.S. Cotelli, O. Palumbo, P. Palumbo, P. Dimartino, S. Cardaropoli, E. Giorgio, L. Pavinato, T. Pippucci, M. Carella, B. Borroni, A. Brusco; “A novel autosomal dominant locus for essential tremor: when linkage analysis can still drive gene discovery.”; 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

Pullano, S. Montagnese, L. Pavinato, A. Biscontin, A. Pengo, S. Bezzio, A. Bruselles, S. De Rubeis; Buxbaum, G.B. Ferrero, M. Tartaglia, R. Costa, A. Brusco; “Alterazione dell’orologio circadiano nelle malattie del neurosviluppo: una possibile mutazione dominante negativa nel gene CLOCK.”; 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

Trajkova, E. Sukarova Angelovska, A. Petlichkovski, B. Gagacovska, V. Trajkova, A. Mussa, G. B. Ferrero, S. Cardaropoli, L. Pavinato, V. Pullano, C. Giovenino, S. Carestiato, T. Pippucci, P. Di Martino, S. De Rubeis, J. Buxbaum, A. Brusco; “NeuroWes-Macedonia: genetic diagnoses for complex syndromic cases with neurodevelopmental disorders” ; 17-19^th November 2021, Società Italiana Genetica Umana, virtual.

Pavinato, A. Delle Vedove, D. Carli, M. Ferrero, S. Carestiato, J. L. Howe, E. Agolini, D. A. Coviello, I. van de Laar, P.- Y. Billie Au, E. Di Gregorio, A. Fabbiani, S. Croci, M. Mencarelli, L. P. Bruno, A. Renieri, R.H. van Jaarsveld, A. Childers, R. C. Rogers, A. Novelli, G. B. Ferrero, S. W. Scherer, B. Wirth, A. Brusco; “CAPRIN1 haploinsufficiency causes a novel neurodevelopmental disorder associated with morphological and functional impairment in hiPSCs-derived cortical neurons”; 11-15^th April 2022, Conference Jacques Monod, Genetics, environment, signaling, & synaptic plasticity in developmental brain disorders: from bench to bedside, Roscoff (France). Selected as one of best scored posters.

Trajkova, E. Sukarova Angelovska, A. Petlichkovski, B. Gagacovska, V. Trajkova, A. Mussa, G. B. Ferrero, S. Cardaropoli, L. Pavinato, V. Pullano, C. Giovenino, S. Carestiato, T. Pippucci, P. Di Martino, S. De Rubeis, J. Buxbaum, A. Brusco; “NeuroWes-Macedonia: gene discovery and precision medicine in NDD”; 11-14th May 2022, INSAR Conference, Austin (Texas)

L Pavinato, R Oegema, CL Harteveld, A Afenjar, A Brusco, FS Cole, T Courtin, I Cutcutache, M Fahey, B Keren, C Mignot, AE Roberts, T Saks, M Shinawi, MEH Simon, J Symonds, NE Verbeek, JA Wambach, B Yalçın, WH Tan; “SUPT5H-related intellectual disability – a novel syndrome with corpus callosum abnormalities and β-thalassemia”; 19-24^th August 2022, David W. Smith Workshop on Malformations and Morphogenesis, Norfolk (Virginia)

 

Pavinato, A. Delle Vedove, D. Carli, M. Ferrero, S. Carestiato, J. L. Howe, E. Agolini, D. A. Coviello, I. van de Laar, P.- Y. Billie Au, E. Di Gregorio, A. Fabbiani, S. Croci, M. Mencarelli, L. P. Bruno, A. Renieri, D. Veltra, C. Sofocleous, L. Faivre, B. Mazel, H. Safraou, A-S. Denommé-Pichon, M. van Slegtenhorst, N. Giesbertz, R.H. van Jaarsveld, A. Childers, R. C. Rogers, A. Novelli, S. De Rubeis, J. D. Buxbaum, S. Trajkova, S. Haghshenas, H. McConkey, J. Kerkhof, B. Sadikovic, S. W. Scherer, G. B. Ferrero, B. Wirth, A. Brusco; “CAPRIN1 haploinsufficiency causes an autosomal dominant neurodevelopmental disorder with defects in hiPSCs-derived neurons and an identifiable episignature in patients.”; 11-14^th June 2022, European Society of Human Genetics Conference, Wien (Austria). Selected for oral presentation; Early Career Awards candidate.

Pullano, A. Brussino, M.S. Cotelli, O. Palumbo, P. Palumbo, P. Dimartino, S. Cardaropoli, E. Giorgio, L. Pavinato, T. Pippucci, M. Carella, B. Borroni, A. Brusco; “A novel autosomal dominant locus for essential tremor: when linkage analysis can still drive gene discovery.”; 11-14^th June 2022, European Society of Human Genetics Conference, Wien (Austria).

 

Giovenino, L. Pavinato, S. Trajkova, S. Cardaropoli, V. Pullano, S. Carestiato, P. Salmin, D. Carli, A. Mussa, S. De Rubeis, J. D. Buxbaum, T. Pippucci, P. Dimartino, A. Bruselles, M.Tartaglia, S. Haghshenas, H. McConkey, J. Kerkhof, B. Sadikovic, G. Mandrile, G. B. Ferrero, A. Brusco; “X-chromosome inactivation is an easy assay to further investigate cases without a diagnostic exome sequencing”; 11-14^th June 2022, European Society of Human Genetics Conference, Wien (Austria).

 

Carestiato, L. Pavinato, L. Sorasio, S. Cardaropoli, E. Todd, A. Bruselles, S. De Rubeis, J. Buxbaum, M. Tartaglia, G. B. Ferrero, A. Brusco; “An atypical Rubinstein-Taybi syndrome 2 associated with EP300 exon 20 skipping”; 11-14^th June 2022, European Society of Human Genetics Conference, Wien (Austria).

 

Trajkova, E. Sukarova Angelovska, A. Petlichkovski, E. Ferrero, S. Cardaropoli, C. Giovenino, v. Pullano, L. Pavinato, S. Carestiato, E. Giorgio, A. Mussa, T. Pippucci, P. Di Martino, A. Golshani, S. Takallou, H. McConkey, J. Kerkhof, B. Sadikovic, S. De Rubeis, J. Buxbaum, G.B. Ferrero, A. Brusco; “NeuroWes-Macedonia: gene discovery and precision medicine in NDD”; 11-14^th June 2022, European Society of Human Genetics Conference, Wien (Austria).