CASSINA, MATTEO
CASSINA, MATTEO
Dipartimento di Salute della Donna e del Bambino - SDB
Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review
2025 Ferasin, Veronica; Raicich, Arianna; Ancora, Caterina; Bonemazzi, Ilaria; Di Paola, Alessandro; D'Errico, Ignazio; Nosadini, Margherita; Ancona, Claudio; Pelizza, Maria Federica; Cassina, Matteo; Toldo, Irene
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa
2025 Lu, Zheng-An; Ploner, Alexander; Birgegård, Andreas; Null, Null; Pedersen, Nancy L.; Yao, Shuyang; Bryois, Julien; Leppä, Virpi M.; Lichtenstein, Paul; Baker, Jessica H.; Zerwas, Stephanie; Thornton, Laura M.; La Via, Maria C.; Munn-Chernoff, Melissa A.; Lin, Bochao Danae; Luykx, Jurjen; Adan, Roger A. H.; Danner, Unna N.; Alfredsson, Lars; Ando, Tetsuya; Andreassen, Ole A.; Mattingsdal, Morten; Aschauer, Harald; Bencko, Vladimir; Bergen, Andrew W.; Berrettini, Wade H.; Boden, Joseph M.; Horwood, L. John; Boehm, Ilka; Ehrlich, Stefan; Franklin, Christopher S.; Tachmazidou, Ioanna; Perica, Vesna Boraska; Crawford, Steven; Brandt, Harry; Farmer, Anne; Mcguffin, Peter; Kalsi, Gursharan; Breen, Gerome; Gaspar, Héléna A.; Coleman, Jonathan R. I.; Roberts, Marion; Purves, Kirstin L.; Hanscombe, Ken B.; Burghardt, Roland; Carlberg, Laura; Clementi, Maurizio; Cassina, Matteo; Forzan, Monica; Cichon, Sven; Herms, Stefan; Forstner, Andreas J.; Cone, Roger D.; Courtet, Philippe; Guillaume, Sébastien; Crow, Scott; Giusti-Rodríquez, Paola; Szatkiewicz, Jin P.; Crowley, James J.; Sullivan, Patrick F.; Davis, Oliver S. P.; Dezwaan, Martina; Dedoussis, George; Ntalla, Ioanna; Favaro, Angela; Degortes, Daniela; Tenconi, Elena; Desocio, Janiece E.; Dick, Danielle M.; Dikeos, Dimitris; Gonidakis, Fragiskos; Dina, Christian; Dmitrzak-Weglarz, Monika; Docampo, Elisa; Escaramís, Geòrgia; Mayora, Monica Gratacos; Duncan, Laramie E.; Duriez, Philibert; Gorwood, Philip; Ramoz, Nicolas; Egberts, Karin; Fischer, Krista; Esko, Tõnu; Espeseth, Thomas; Estivill, Xavier; Fernández-Aranda, Fernando; Jiménez-Murcia, Susana; Fichter, Manfred M.; Floyd, James A. B.; Föcker, Manuel; Foretova, Lenka; Navratilova, Marie; Gallinger, Steven; Gambaro, Giovanni; Giegling, Ina; Rujescu, Dan; Gordon, Scott; Martin, Nicholas G.; Grove, Jakob; Guo, Yiran; Li, Dong; Hakonarson, Hakon; Halmi, Katherine A.; Southam, Lorraine; Hatzikotoulas, Konstantinos; Hauser, Joanna; Hebebrand, Johannes; Peters, Triinu; Hinney, Anke; Helder, Sietske G.; Henders, Anjali; Herpertz-Dahlmann, Beate; Seitz, Jochen; Herzog, Wolfgang; Hübel, Christopher; Yilmaz, Zeynep; Xu, Jiayi; Johnson, Jessica S.; Huckins, Laura M.; Pinto, Dalila; Hudson, James I.; Imgart, Hartmut; Inoko, Hidetoshi; Janout, Vladimir; Johnson, Craig; Jordan, Jennifer; Marsal, Sara; Julià, Antonio; Papezova, Hana; Kaminská, Deborah; Kaplan, Allan S.; Kennedy, James L.; Kaprio, Jaakko; Widen, Elisabeth; Karhunen, Leila; Karwautz, Andreas; Wagner, Gudrun; Kas, Martien J. H.; Kaye, Walter H.; Kennedy, Martin A.; Keski-Rahkonen, Anna; Kiezebrink, Kirsty; Kim, Youl-Ri; Kirk, Katherine M.; Medland, Sarah E.; Parker, Richard; Klareskog, Lars; Padyukov, Leonid; Klump, Kelly L.; Knudsen, Gun Peggy S.; Larsen, Janne T.; Petersen, Liselotte V.; Mortensen, Preben Bo; Le Hellard, Stephanie; Lilenfeld, Lisa; Lissowska, Jolanta; Lundervold, Astri J.; Magistretti, Pierre J.; Monteleone, Alessio Maria; Maj, Mario; Mannik, Katrin; Marshall, Christian R.; Mattheisen, Manuel; Mcdevitt, Sara; Metspalu, Andres; Slagboom, P. Eline; Meulenbelt, Ingrid; Micali, Nadia; Mitchell, James; Mitchell, Karen; Monteleone, Palmiero; Montgomery, Grant W.; Nacmias, Benedetta; Sorbi, Sandro; Whiteman, David C.; Olsen, Catherine M.; Ophoff, Roel A.; O'Toole, Julie; Palotie, Aarno; Pantel, Jacques; Pearson, John F.; Raevuori, Anu; Reichborn-Kjennerud, Ted; Ricca, Valdo; Ripatti, Samuli; Ripke, Stephan; Rotondo, Alessandro; Rybakowski, Filip; Santonastaso, Paolo; Scherag, André; Scherer, Stephen W.; Schmidt, Ulrike; Treasure, Janet; Schork, Nicholas J.; Schosser, Alexandra; Slachtova, Lenka; Slof-Op't, Margarita C. T.; Van Furth, Eric F.; Tyszkiewicz-Nwafor, Marta; Slopien, Agnieszka; Soranzo, Nicole; Steen, Vidar W.; Strober, Michael; Stuber, Garret D.; Świątkowska, Beata; Tam, Friederike I.; Tortorella, Alfonso; Tozzi, Federica; Tsitsika, Artemis; Tziouvas, Konstantinos; Van Elburg, Annemarie; Wade, Tracey D.; Watson, Hunna J.; Werge, Thomas; Wichmann, H-Erich; Woodside, D. Blake; Zeggini, Eleftheria; Zipfel, Stephan; Maguire, Sarah L.; Landén, Mikael; Bulik, Cynthia M.; Bergen, Sarah E.
Optimising diagnosis in children with short stature: an integrated clinical and NGS approach
2025 Guazzarotti, Laura; Mozzato, Chiara; Zoletto, Silvia; Boaretto, Francesca; Rigon, Chiara; Cassina, Matteo
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
2025 Di Giosaffatte, N.; Daniele, P.; Petrizzelli, F.; Iacovino, C.; Canciani, C.; Garau, M. L.; Santoro, C.; Trevisan, V.; Panfili, A.; Cavone, S.; Guida, V.; D'Asdia, M. C.; Bernardini, L.; Majore, S.; Ferraris, A.; Valiante, M.; Gensini, F.; Radio, F. C.; Tortora, G.; Cassina, M.; Miele, G.; Priolo, M.; Sirchia, F.; Piccinno, L.; Flex, E.; Zampino, G.; Genuardi, M.; Nigro, V.; Salviati, L.; Papi, L.; Grammatico, P.; Leoni, C.; Piluso, G.; Giustini, S.; Mazza, T.; Upadhyaya, M.; Tartaglia, M.; Trevisson, E.; De Luca, A.
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
2024 Sorrentino, Ugo; Baschiera, Elisa; Desbats, Maria Andrea; Zuffardi, Orsetta; Salviati, Leonardo; Cassina, Matteo
Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS)
2024 Onken, Marlies; Lohse, Lukas; Coulm, Bénédicte; Beghin, Delphine; Richardson, Jonathan L; Bermejo-Sánchez, Eva; Aguilera, Cristina; Bosch, Montserrat; Cassina, Matteo; Chouchana, Laurent; De Santis, Marco; Duman, Mine Kadioglu; Gören, M Zafer; Johnson, Diana; Bera, Annie Pierre Jonville; Kaplan, Yusuf C; Kennedy, Debra; Kwok, Susan; Lacroix, Isabelle; Lepelley, Marion; Pistelli, Alessandra; Schaefer, Christof; Te Winkel, Bernke; Uysal, Nusret; Winterfeld, Ursula; Yakuwa, Naho; Diav-Citrin, Orna; Vial, Thierry; Dathe, Katarina
Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis
2024 Lu, Zheng-An; Ploner, Alexander; Birgegård, Andreas; Null, Null; Adan, Roger; Alfredsson, Lars; Ando, Tetsuya; Andreassen, Ole; Baker, Jessica; Bergen, Andrew; Berrettini, Wade; Birgegård, Andreas; Boden, Joseph; Boehm, Ilka; Perica, Vesna Boraska; Brandt, Harry; Breen, Gerome; Bryois, Julien; Buehren, Katharina; Bulik, Cynthia; Burghardt, Roland; Cassina, Matteo; Cichon, Sven; Coleman, Jonathan; Cone, Roger; Courtet, Philippe; Crawford, Steven; Crow, Scott; Crowley, James; Danner, Unna; Davis, Oliver; De Zwaan, Martina; Dedoussis, George; Desocio, Janiece; Dick, Danielle; Dikeos, Dimitris; Dina, Christian; Dmitrzak-Weglarz, Monika; Docampo, Elisa; Duncan, Laramie; Egberts, Karin; Ehrlich, Stefan; Escaramís, Geòrgia; Esko, Tõnu; Estivill, Xavier; Farmer, Anne; Favaro, Angela; Fernández-Aranda, Fernando; Fischer, Krista; Föcker, Manuel; Foretova, Lenka; Forstner, Andreas; Forzan, Monica; Franklin, Christopher; Gallinger, Steven; Giegling, Ina; Giusti-Rodríguez, Paola; Gonidakis, Fragiskos; Gordon, Scott; Gorwood, Philip; Mayora, Monica Gratacos; Grove, Jakob; Guillaume, Sébastien; Guo, Yiran; Hakonarson, Hakon; Halmi, Katherine; Hanscombe, Ken; Hatzikotoulas, Konstantinos; Hauser, Joanna; Hebebrand, Johannes; Helder, Sietske; Herms, Stefan; Herpertz-Dahlmann, Beate; Herzog, Wolfgang; Hinney, Anke; Horwood, L John; Hübel, Christopher; Huckins, Laura; Hudson, James; Imgart, Hartmut; Inoko, Hidetoshi; Janout, Vladimir; Jiménez-Murcia, Susana; Johnson, Craig; Jordan, Jennifer; Julià, Antonio; Kalsi, Gursharan; Kaminská, Deborah; Kaplan, Allan; Kaprio, Jaakko; Karhunen, Leila; Karwautz, Andreas; Kas, Martien; Kaye, Walter; Kennedy, James; Kennedy, Martin; Keski-Rahkonen, Anna; Kiezebrink, Kirsty; Kim, Youl-Ri; Klareskog, Lars; Klump, Kelly; Landén, Mikael; Larsen, Janne; Le Hellard, Stephanie; Leppä, Virpi; Li, Dong; Lichtenstein, Paul; Lilenfeld, Lisa; Lin, Bochao Danae; Lissowska, Jolanta; Luykx, Jurjen; Maj, Mario; Marsal, Sara; Martin, Nicholas; Mattheisen, Manuel; Mattingsdal, Morten; Medland, Sarah; Metspalu, Andres; Meulenbelt, Ingrid; Micali, Nadia; Mitchell, Karen; Mitchell, James; Monteleone, Alessio Maria; Monteleone, Palmiero; Mortensen, Preben Bo; Munn-Chernoff, Melissa; Nacmias, Benedetta; Navratilova, Marie; Ntalla, Ioanna; Olsen, Catherine; Ophoff, Roel; Padyukov, Leonid; Pantel, Jacques; Papezova, Hana; Parker, Richard; Pearson, John; Pedersen, Nancy; Petersen, Liselotte; Pinto, Dalila; Purves, Kirstin; Raevuori, Anu; Ramoz, Nicolas; Reichborn-Kjennerud, Ted; Ricca, Valdo; Ripatti, Samuli; Ripke, Stephan; Ritschel, Franziska; Roberts, Marion; Rujescu, Dan; Rybakowski, Filip; Santonastaso, Paolo; Scherag, André; Scherer, Stephen; Schmidt, Ulrike; Schork, Nicholas; Schosser, Alexandra; Seitz, Jochen; Slachtova, Lenka; Slagboom, P Eline; Landt, Margarita Slof-Op 't; Slopien, Agnieszka; Sorbi, Sandro; Strober, Michael; Sullivan, Patrick; Świątkowska, Beata; Szatkiewicz, Jin; Tenconi, Elena; Thornton, Laura; Tortorella, Alfonso; Treasure, Janet; Tsitsika, Artemis; Tyszkiewicz-Nwafor, Marta; Van Elburg, Annemarie; Van Furth, Eric; Wade, Tracey; Wagner, Gudrun; Watson, Hunna; Werge, Thomas; Whiteman, David; Widen, Elisabeth; Woodside, D Blake; Yao, Shuyang; Yilmaz, Zeynep; Zeggini, Eleftheria; Zerwas, Stephanie; Zipfel, Stephan; Breen, Gerome; Bulik, Cynthia; Bulik, Cynthia M; Bergen, Sarah E
The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study
2024 Guarneri, Cristina; Reschini, Marco; Pinna, Monica; Perego, Lucia; Sanzani, Elena; Somigliana, Edgardo; Sorrentino, Ugo; Cassina, Matteo; Zuccarello, Daniela; Ciaffaglione, Marta
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
2023 Salerno, Annalisa; Zanin, Anna; Cassina, Matteo; Benini, Franca
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
2023 Salerno, Annalisa; Zanin, Anna; Cassina, Matteo; Benini, Franca
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
2023 Toldo, Irene; Brunello, Francesco; Cavasin, Paola; Nosadini, Margherita; Sartori, Stefano; Frigo, ANNA CHIARA; Mai, Roberto; Pelliccia, Veronica; Margherita Mancardi, Maria; Striano, Pasquale; Severino, Marisavina; Zara, Federico; Rizzi, Romana; Casellato, Susanna; Di Rosa, Gabriella; Mastrangelo, Mario; Spalice, Alberto; Budetta, Mauro; De Palma, Luca; Guerrini, Renzo; Pruna, Dario; Maria Cordelli, Duccio; Sofia, Vito; Papa, Amanda; Chiesa, Valentina; Ragona, Francesca; Parisi, Pasquale; D'Aniello, Alfredo; Veggiotti, Pierangelo; Dainese Lucio Giordano, Filippo; Licchetta, Laura; Tinuper, Paolo; D'Orsi, Giuseppe; Cassina, Matteo; Manara, Renzo
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
2023 Sorrentino, U.; Gabbiato, I.; Canciani, C.; Calosci, D.; Rigon, C.; Zuccarello, D.; Cassina, M.
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
2023 Sorrentino, Ugo; Agosto, Caterina; Benini, Franca; Bertolin, Cinzia; Cassina, Matteo; Bonadies, Luca; Caroppo, Francesca; Fortina, Anna Belloni; Salviati, Leonardo
Epigenetics of pregnancy: looking beyond the DNA code
2022 Zuccarello, D.; Sorrentino, U.; Brasson, V.; Marin, L.; Piccolo, C.; Capalbo, A.; Andrisani, A.; Cassina, M.
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
2022 Cacciatori, Elena; Aleo, Sebastiano; Scuvera, Giulietta; Rigon, Chiara; Marchisio, Paola Giovanna; Cassina, Matteo; Milani, Donatella
The risk of questioning the safety of drugs considered safe in pregnancy at the era of big data: the everlasting case of doxylamine
2022 Panchaud, Alice; Cleary, Brian; Weber-Schoendorfer, Corinna; Shechtman, Svetlana; Cassina, Matteo; Diav-Citrin, Orna; Damkier, Per
Craniosynostosis is a feature of CHD7-related CHARGE syndrome
2021 De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F.
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
2021 Sorrentino, U; Piccolo, C; Rigon, C; Brasson, V; Trevisson, E; Boaretto, F; Martini, A; Cassina, M
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo