Dott.ssa Lisa Pavinato

SCIENZE BIOMEDICHE ED ONCOLOGIA
Dottorato: 34° ciclo
Dipartimento di Scienze Mediche
Matricola: 788473

Contatti

lisa.pavinato@unito.it
Palazzina Ceppellini
Via Santena 19
Turin
Italy
https://dott-sbou.campusnet.unito.it/do/studenti.pl/Show?788473
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Attività di ricerca

ORCID iD

Last publications

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A. 2021 Mar 6. doi: 10.1002/ajmg.a.62157. Epub ahead of print. PMID: 33675273.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana, Hillary Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Colleen M. Longley, Hsiao-Tuan Chao, Hyunglok Chung, Nele A Haelterman, Oguz Kanca, Sathiya N Manivannan, Linda Z Rossetti, Amanda Gerard, Eva Maria Christina Schwaibold, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N Murali, Tahsin Stefan Barakat, Marieke F van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A Brownstein, Jill A Madden, Pankaj Agrawal, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A Rosenfeld, Ronit Marom, Michael F Wangler, Shinya Yamamoto
bioRxiv 2020.12.30.424813; doi: https://doi.org/10.1101/2020.12.30.424813

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, et al
Journal of Medical Genetics Published Online First: 15 December 2020. doi: 10.1136/jmedgenet-2020-107281
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Trajkova, S.; Di Gregorio, E.; Ferrero, G.B.; Carli, D.; Pavinato, L.; Delplancq, G.; Kuentz, P.; Brusco, A. Brain Sci. 2020, 10, 788. https://doi.org/10.3390/brainsci10110788

L. Pavinato, E. Giorgio, V. Antona, D. Carli, K. Ranguin, C. Colson, S. De Rubeis, T. Pippucci, P. Dimartino, M. Scaramuzzino, S. Cardaropoli, A. Ciolfi, C. Radio, J. Buxbaum, GB. Ferrero, M. Tartaglia, A. Brusco; "Two de novo and one familiar cases of TLK2 -associated intellectual disability confirm disease variable expressivity" ; 16-18th June 2019, ESHG Conference, Gothenburg (Sweden)

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)

C. 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, 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)

C. 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)

C. 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, 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)

Attended seminars:

22nd January 2019, Department of Medical Sciences, Turin, Italy; "Machine learning Methods in Biology and Medicine", Prof. Piero Fariselli (Turin, Italy)

18th December 2018, Department of Medical Sciences, Turin, Italy; "Deficit di glucoso-6-fosfato deidrogenasi (G6PD) e favismo"; Prof. Paolo Arese (Turin, Italy)

15th November 2018, Department of Medical Sciences, Turin, Italy; "Genetics of Congenital Immunodeficiencies"; Nima Rezaei, MD, PhD (Tehran, Iran)

10th October 2018, MBC, Turin, Italy; "Bringing Unprecedented Resolution to Biology with 10x GENOMICS Single Cell Analysis"; Dr. Diego Muzzini, Ph.D. (Carlo Erba Reagents)

9th October 2018, Department of Medical Sciences, Turin, Italy; "La genetica di popolazioni nel ricordo di Cavalli-Sforza"; Prof. Alberto Piazza (Turin, Italy)

15th May 2018, Department of Medical Sciences, Turin, Italy; “Modeling human genetic diseases in Caenorhabditis elegans”; Simone Martinelli, Ph.D.

23rd November 2017, MBC, Turin, Italy; “SIBBM Lecture: A tale of Proteomics, Disease Mechanisms & Data Mountains”; Angus Lamond (University of Dundee, UK).

20th November 2017, MBC, Turin, Italy; “Cell therapy and tissue engineering in renal diseases: Stem cells as a new trend”; Dr. Reza Moghadasali, Ph.D (Tehran, Iran)

30th May 2017, NICO, Orbassano, Turin, Italy; “6th Workshop Advanced Techniques of Microscopy”, organized by Nikon®.

22nd May 2017, MBC, Turin, Italy; “Giornata di studio Guido Tarone”.

20th April 2017, MBC, Turin, Italy;. “Cellular organization of the brain”. Dr. Michèle Studer (Nice, France).

4th April 2016, MBC, Turin, Italy; “Encoding synaptic GluN2Acontaining NMDA receptor activation: the role of Ring Finger Protein 10”; Fabrizio Gardoni, Ph.D. (Milan, Italy)

14th July 2016, MBC, Turin, Italy; “Nanoprobes for functional neuroimaging”. Dr. Angelo Bifone (Genova, Italy)

23-24th September 2015, MBC, Turin, Italy; “NEURINOX Symposium: Innovative concepts for treating neurodegenerative diseases.”

15th September 2015, MBC, Turin, Italy; “New perspectives for prevention of cognitive disability in Down Syndrome”. Prof. Renata Bartesaghi

28th May 2014, NICO, Orbassano, Turin, Italy; “Basic research: the first step to fight against neurodegenerative diseases.”

March 25, 2019, Turin, Italy. “RNA-Seq Course”

October 4-5, 2018, Rome, Italy. “NGS in the laboratory of human genetics”.

December 1, 2017, Turin, Italy. “Introduction to ImageJ/Fiji” ; Marta Gai, University of Turin (Italy)