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

Lucia Pia Bruno

university of siena

8H-index
29Paper Count
245Citation Count
Published Papers 11
Publication Date
logo
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
errShare
errSave
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022
errOrphanet Journal of Rare Diseases
IF3.5
err2026-01-08
err0
errOAAI
errSylvia Martin; Gergana Kyosovska-Peshtenska; Jennifer Audi; Kaja Zarakowska; Åsa Grauman; Jorien Veldwijk; Brett Hauber; Joshua Coulter; Aileen Fürer; Alexandra Wagner; Aneta Piperkova; Edith Sky Gross; Ferdinand Knieling; Gulcin Gumus; Marek Zak; Maria Martinez-Fresno; Alicia Granados; Stefaan Sansen; Yuen Man; Janbernd Kirschner; Lucia Pia Bruno; Enrico Silvio Bertini; Silvia Ottombrino; Antonio Novelli; Emanuele Agolini; Sandra Courbier; Nicolas Garnier; Tsungai Jackson; Branimir Velinov; Jessie Dubief; Roman Raming; Christina Saier; Fernanda Fortunato; Vera Frankova; Mats Hansson
errShare
errSave
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2025-06-25
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
errShare
errSave
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
errGENETICS IN MEDICINE
IF6.2
err2023-11-01
err4
errOAAI
errBosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia
errShare
errSave
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
errShare
errSave
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
errBRAIN
IF11.7
err2022-07-27
err12
errOAAI
errPavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L.; Agolini, Emanuele; Coviello, Domenico A.; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P.; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denomme-Pichon, Anne-Sophie; van Slegtenhorst, Marjon A.; Giesbertz, Noor; van Jaarsveld, Richard H.; Childers, Anna; Rogers, R. Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D.; Scherer, Stephen W.; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
errShare
errSave
Natural history of KBG syndrome in a large European cohort
errHUMAN MOLECULAR GENETICS
IF3.2
err2022-07-21
err17
errOAAI
errLoberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, Anna
errShare
errSave
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
errFRONTIERS IN MOLECULAR NEUROSCIENCE
IF3.8
err2022-06-17
err13
errOAAI
errKhan, Amjad; Bruno, Lucia Pia; Alomar, Fadhel; Umair, Muhammad; Pinto, Anna Maria; Khan, Abid Ali; Khan, Alamzeb; Fabbiani, Alessandra; Zguro, Kristina; Furini, Simone; Mencarelli, Maria Antonietta; Renieri, Alessandra; Resciniti, Sara; Pena-Guerra, Karla A.; Guzman-Vega, Francisco J.; Arold, Stefan T.; Ariani, Francesca; Khan, Shahid Niaz
errShare
errSave
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay
errJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
err2021-10-28
err0
PREAI
errBruno, Lucia Pia; Fava, Francesca; Baldassarri, Margherita; Salvati, Virginia M.; Scandurra, Valeria; Canitano, Roberto; Valentino, Floriana; Doddato, Gabriella; Tita, Rossella; Giliberti, Annarita; Renieri, Alessandra; Ariani, Francesca
errShare
errSave
Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (vol 11, 649435, 2021)
errFRONTIERS IN ONCOLOGY
IF3.3
err2021-08-17
err1
errOAAI
errDoddato, Gabriella; Valentino, Floriana; Giliberti, Annarita; Papa, Filomena Tiziana; Tita, Rossella; Bruno, Lucia Pia; Resciniti, Sara; Fallerini, Chiara; Benetti, Elisa; Palmieri, Maria; Mencarelli, Maria Antonietta; Fabbiani, Alessandra; Bruttini, Mirella; Orrico, Alfredo; Baldassarri, Margherita; Fava, Francesca; Lopergolo, Diego; Lo Rizzo, Caterina; Lamacchia, Vittoria; Mannucci, Sara; Pinto, Anna Maria; Curro, Aurora; Mancini, Virginia; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca
errShare
errSave
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes
errFRONTIERS IN ONCOLOGY
IF3.3
err2021-05-07
err13
errOAAI
errDoddato, Gabriella; Valentino, Floriana; Giliberti, Annarita; Papa, Filomena Tiziana; Tita, Rossella; Bruno, Lucia Pia; Resciniti, Sara; Fallerini, Chiara; Benetti, Elisa; Palmieri, Maria; Mencarelli, Maria Antonietta; Fabbiani, Alessandra; Bruttini, Mirella; Orrico, Alfredo; Baldassarri, Margherita; Fava, Francesca; Lopergolo, Diego; Lo Rizzo, Caterina; Lamacchia, Vittoria; Mannucci, Sara; Pinto, Anna Maria; Curro, Aurora; Mancini, Virginia; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
J
Joseph D. Buxbaum
H-index: 140 · Papers: 790
E
Enrico Bertini
H-index: 113 · Papers: 1.3K
A
André Reis
H-index: 95 · Papers: 1.0K
L
Laurence Faivre
H-index: 85 · Papers: 712
View more