logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
A

Alfredo Brusco

città della salute e della scienza di torino university hospital

45H-index
350Paper Count
1.3WCitation Count
Published Papers 131
Publication Date
logo
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
errHuman Genetics
IF3.6
err2026-07-08
err0
errOAAI
errSimona Cardaropoli; Lisa Pavinato; Slavica Trajkova; Diana Carli; Verdiana Pullano; Flavia Palermo; Alessandro Mussa; Elisa Biamino; Vincenzo Antona; Andrea Zonta; Paola Dimartino; Mariia Zadorozhna; Alessandro Bruselles; Roberto Keller; Barbara Pasini; Enrico Grosso; Giorgia Mandrile; Joseph D. Buxbaum; Silvia De Rubeis; Tommaso Pippucci; Marco Tartaglia; Elisa Giorgio; Alfredo Brusco; Giovanni Battista Ferrero
errShare
errSave
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
errScientific Reports
IF3.9
err2026-07-04
err0
errOAAI
errFederico Rondot; Federica Centofanti; Anna Micaletto; Luca Angheben; Federico Fontana; Niccolò Rossi; Flavia Cerrato; Laura Pignata; Giada Carta; Silvia Di Tommaso; Piera Bontempo; Barbara Pasini; Antonio Novelli; Alessandro Mussa; Andrea Riccio; Giovanni Battista Ferrero; Alfredo Brusco; Massimo Delledonne
errShare
errSave
Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre Cohort
errInternational Journal of Molecular Sciences
IF4.9
err2026-05-15
err0
errOAAI
errEmanuela Claudia Turco; Giulia Pisanò; Laura Caiazza; Silvia Carestiato; Benedetta Piccolo; Simona Fecarotta; Francesca Pochiero; Federica Ricci; Alfredo Brusco; Giovanni Battista Ferrero; Susanna Esposito; Carlo Fusco; Maria Carmela Pera
errShare
errSave
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
errShare
errSave
Advancing neuropediatric rare disease diagnosis through clinical Genome Sequencing
errPediatric Neurology
IF2.1
err2026-01-14
err0
errOAAI
errFabio Sirchia; Silvia Kalantari; Diana Carli; Mariia Zadorozhna; Francesco Bassanese; Erin Thorpe Venti; Ryan J. Taft; Akanchha Kesari; Lorena Sorasio; Vincenzo Antona; Andrea Guala; Agnese Feresin; Anna Basile; Francesco Licciardi; Jessica Garau; Paolo Gasparini; Enrico Grosso; Alessandro Mussa; Giovanni Battista Ferrero; Alfredo Brusco
errShare
errSave
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome
errAmerican Journal of Hematology
IF9.9
err2025-11-17
err0
errOAAI
errPaola Quarello; Karim Karimi; Slavica Trajkova; Emanuela Garelli; Mehdi Samadieh; Emanuela Iovino; Tommaso Pippucci; Giovanni Papagni; Sandra Dalfonso; Lucia Corrado; Serena Rizzo; Adriana Carando; Jennifer Kerkhof; Jessica Rzasa; Haley McConkey; Michael Levy; Marco Zecca; Francesca Fioredda; Angelica Barone; Simone Cesaro; Maria Gabelli; Francesca Torchio; Giulia Zucchetti; Maria Elena Cantarini; Paola Corti; Ugo Ramenghi; Franco Locatelli; Franca Fagioli; Bekim Sadikovic; Alfredo Brusco
errShare
errSave
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
errNature Communications
IF15.7
err2025-11-10
err0
errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
errShare
errSave
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
errGenes 2025, Vol. 16, Page 1229
IF0
err2025-10-17
err0
errOAAI
errVerdiana Pullano; Federico Rondot; Ilaria Carelli; Slavica Trajkova; Silvia Carestiato; Simona Cardaropoli; Diana Carli; Elisa Biamino; Fabio Sirchia; Giuseppe Reynolds; Roberto Keller; Elena Shukarova-Angelovska; Giovanni Battista Ferrero; Alfredo Brusco; Alessandro Mussa
errShare
errSave
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
errNature Communications
IF15.7
err2025-10-10
err0
errOAAI
errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
errShare
errSave
Impact of Elovl5 Deficiency on Cerebellar Excitatory Synaptic Transmission in Mice
errJOURNAL OF NEUROSCIENCE
IF4
err2025-09-17
err0
errOAAI
errMontarolo, Francesca; Gao, Fangyuan; Loddo, Matilde; Milek, Jacek; Zawadzka, Michalina; Miniaci, Maria Concetta; Brusco, Alfredo; Balbo, Ilaria; Dziembowska, Magdalena; Tempia, Filippo; Skowronska-Krawczyk, Dorota; Hoxha, Eriola
errShare
errSave
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
errEuropean Journal of Human Genetics
IF4.6
err2025-08-12
err0
errOAAI
errJulia Volpi; Xiaonan Zhao; Nichole Owen; Tia Evans; Muriel Holder-Espinasse; Nayana Lahiri; Eleanor Sherlock; Gemma Poke; Jeroen Breckpot; Koen Devriendt; Bjorn Cools; Alfredo Brusco; Giovanni Battista Ferrero; Enrico Grosso; Pradeep Vasudevan; Sara Loddo; Antonio Novelli; Maria Cristina Digilio; Aafke Engwerda; Marrit Hitzert; Alison Male; Lucy Bownass; Ruth Newbury-Ecob; Zosia Miedzybrodzka; Ruth Armstrong; Sally Ann Lynch; Gunnar Houge; Shiyi Xiong; Seema R. Lalani; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Daryl A. Scott
errShare
errSave
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses
errSCIENTIFIC REPORTS
IF3.9
err2025-03-13
err0
errOAAI
errBarzasi, Marta; Spinola, Alessio; Costa, Alex; Pavinato, Lisa; Brusco, Alfredo; Marcello, Elena; Diluca, Monica; Gardoni, Fabrizio
errShare
errSave
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errFerrero, Enza; Vaz, Frederic M.; Cheillan, David; Brusco, Alfredo; Marelli, Cecilia
errShare
errSave
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease
errALZHEIMERS RESEARCH & THERAPY
IF7.6
err2025-01-14
err0
errOAAI
errRubino, Elisa; Italia, Maria; Giorgio, Elisa; Boschi, Silvia; Dimartino, Paola; Pippucci, Tommaso; Roveta, Fausto; Cambria, Clara Maria; Elia, Gabriella; Marcinno, Andrea; Gallone, Salvatore; Rogaeva, Ekaterina; Antonucci, Flavia; Brusco, Alfredo; Gardoni, Fabrizio; Rainero, Innocenzo
errShare
errSave
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
PREAI
errScala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; Macdonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; Mcdonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni, V; Undiagnosed Dis Network, Undiagnosed Diseases; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.
errShare
errSave
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
errOAAI
errvan der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E.
errShare
errSave
RICTOR variants are associated with neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-30
err0
PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
errShare
errSave
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-09-23
err1
PREAI
errSaettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martin-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Mousavi, Fatemeh Emam; Nelson, Zoe; Gutierrez-Solana, Luis Gonzalez; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; Stoddard, Jennifer L.; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
errShare
errSave
MicroRNA dysregulation in ataxia telangiectasia
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2024-08-19
err0
errOAAI
errCirillo, Emilia; Tarallo, Antonietta; Toriello, Elisabetta; Carissimo, Annamaria; Giardino, Giuliana; De Rosa, Antonio; Damiano, Carla; Soresina, Annarosa; Badolato, Raffaele; Dellepiane, Rosa Maria; Baselli, Lucia A.; Carrabba, Maria; Fabio, Giovanna; Bertolini, Patrizia; Montin, Davide; Conti, Francesca; Romano, Roberta; Pozzi, Elisa; Ferrero, Giulio; Roncarati, Roberta; Ferracin, Manuela; Brusco, Alfredo; Parenti, Giancarlo; Pignata, Claudio
errShare
errSave
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
errANNALS OF NEUROLOGY
IF7.7
err2024-07-30
err2
errOAAI
errDimartino, Paola; Zadorozhna, Mariia; Yumiceba, Veronica; Basile, Anna; Cani, Ilaria; Melo, Uira Souto; Henck, Jana; Breur, Marjolein; Tonon, Caterina; Lodi, Raffaele; Brusco, Alfredo; Pippucci, Tommaso; Koufi, Foteini-Dionysia; Boschetti, Elisa; Ramazzotti, Giulia; Manzoli, Lucia; Ratti, Stefano; Vairo, Filippo Pinto E.; Delatycki, Martin B.; Vaula, Giovanna; Cortelli, Pietro; Bugiani, Marianna; Spielmann, Malte; Giorgio, Elisa
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
M
Mark J. Daly
H-index: 224 · Papers: 1.2K
J
John Hardy
H-index: 207 · Papers: 1.9K
D
Daniel H. Geschwind
H-index: 188 · Papers: 966
T
Terho Lehtimäki
H-index: 178 · Papers: 1.9K
A
Aarno Palotie
H-index: 171 · Papers: 1.2K
View more