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M

Marco Tartaglia

Bambino Gesù Children's Hospital

78H指数
681论文数
2.7W被引数
收录论文 293
发表时间
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An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activationN端CDC42 T43I变异体揭示了pyrin炎性小体的激活机制
errScience Immunology
IF16.3
err2026-08-07
err0
PREAI
errMariko Aoki; Alberto Iannuzzo; Philippe Mertz; Shouya Feng; Naoya Iwata; Chiara Perugini; Naomi Tsuchida; Rana El Masri; Yoshihiko Kuchitsu; Rachida Tacine; Simona Coppola; Hirofumi Shibata; Margaux Cescato; Masahiko Nishitani-Isa; Alexandre Terré; Yuri Kawasaki; Sarah Dalmon; Kenichi Nishimura; Flora Magnotti; Satoko Miyatake; Marc André; Keisuke Hamada; Jonathan London; Kazushi Izawa; Akira Niwa; Nobuhiko Okamoto; Kazuhiro Ogata; Masashi Nishikawa; Erika Zara; Megumu K. Saito; Marco Tartaglia; Shuichi Ito; Mathieu P. Rodero; Koh-ichi Nagata; Asma Smahi; Naomichi Matsumoto; Laurent Le Corre; Junko Takita; Guilaine Boursier; Atsushi Hijikata; Thomas Henry; Tomohiko Taguchi; Véronique Hentgen; Sophie Georgin-Lavialle; Yoshitaka Honda; Seth L. Masters; Takahiro Yasumi; Jérôme Delon
err分享
err收藏
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade神经WES项目：十年间对神经发育障碍进行综合表型分析和遗传分析的经验总结
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
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Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder出版商更正: RNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍
errNature Genetics
IF29
err2026-04-23
err0
errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; T homas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
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Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype肌肉超声在科斯特洛综合征中的应用：揭示复杂肌型的新临床见解
errOrphanet Journal of Rare Diseases
IF3.5
err2026-04-23
err0
errOAAI
errChiara Leoni; Germana Viscogliosi; Deborah Pajalunga; Valentina Trevisan; Ludovica Mondelli; Maria Luigia Angeli; Consolato Gullì; Massimo Tatti; Lucrezia Perri; Iacopo Bellani; Nicolò Lentini; Roberta Pastorino; Eliza Kuczynska; Jacopo Gervasoni; Domenico Marco Maurizio Romeo; Marika Pane; Eugenio Maria Mercuri; Serena Cecchetti; Giovanna Carpentieri; Marco Tartaglia; Giuseppe Zampino; Elisabetta Flex
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderRNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; Thomas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
err分享
err收藏
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosabiallelic BAIAP3 变体与孤立性视网膜色素变性相关
errInternational Journal of Molecular Sciences
IF4.9
err2026-03-03
err0
errOAAI
errViviana Cordeddu; Elisabetta Flex; Luca Mignini; Alessandro Bruselles; Serena Cecchetti; Elena Messina; Maria Beatrice Arasi; Mattia Carvetta; Emilio Straface; Alessandro Leone; Daniele Guadagnolo; Maria Cecilia D’Asdia; Marcella Nebbioso; Emanuele Bellacchio; Carmen Dell’Aquila; Lucia Ziccardi; Antonio Pizzuti; Alessandro De Luca; Marco Tartaglia
err分享
err收藏
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt
errClinical Genetics
IF2.3
err2026-01-28
err0
PREAI
errLuigi Chiriatti; Manuela Priolo; Chiara Leoni; Roberta Onesimo; Mattia Carvetta; Marta Parrino; Gianpiero Tamburrini; Ilaria Contaldo; Rosellina Russo; Jan Friedman; Sila Rogan; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Marcello Niceta; Francesca Clementina Radio; Cecilia Mancini; Marco Tartaglia; Giuseppe Zampino
err分享
err收藏
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations新近鉴定出的ARF3变异体加强了高尔基体碎片化与脑部畸形之间的因果联系。
errEuropean Journal of Human Genetics
IF4.6
err2026-01-08
err0
PREAI
errValentina Muto; Giulia Fasano; Francesca Clementina Radio; Catia Pedalino; Mattia Carvetta; Simona Coppola; Erika Zara; Stefania Petrini; Caroline Schluth-Bolard; Claire Bilbault; Salima El Chehadeh; Bénédicte Gérard; Anne de Saint-Martin; Daniel C. Koboldt; Emily Sites; Cynthia Curry; Theresia Herget; Ann-Sophie Höing; Leonie von Elsner; Eileen Elizabeth Barr; Ugur Hodoglugil; Anne Slavotinek; Marco Tartaglia; Antonella Lauri
err分享
err收藏
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeRAF1相关的Noonan综合征中的领域特异性表型谱
errEuropean Journal of Human Genetics
IF4.6
err2026-01-08
err0
PREAI
errAndrea Gazzin; Marta Calvo; Federico Rondot; Giuseppe Reynolds; Chiara Leoni; Marcello Niceta; Maria Lisa Dentici; Maria Cristina Digilio; Francesca Lepri; Emanuele Monda; Ilaria Carelli; Eva Trevisson; Iris Scala; Giorgia Mancano; Elena Andreucci; Franco Stanzial; Francesco Brancati; Giuseppe Zampino; Luigi Tarani; Roberto Paparella; Diana Carli; Anna Maria Villar; Elena Banaudi; Stefania Massuras; Simona Cardaropoli; Paola Daniele; Elena Airulo; Chiara Riggi; Giulio Calcagni; Giovanni Battista Ferrero; Giuseppe Limongelli; Alessandro De Luca; Marco Tartaglia; Alessandro Mussa
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err收藏
Interpreting the functional impact of genetic variants: The need for context qualifiers解读基因变异的功能影响：需要背景限定因素
errThe American Journal of Human Genetics
IF0
err2025-12-01
err0
PREAI
errSimone Martinelli; Hélène Cavé; Alessandro De Luca; Marina DiStefano; Rachel Karchin; Ana Clara Lugones; Anne O’Donnell-Luria; Deborah I. Ritter; David Tamborero; Michael Y. Tolstorukov; Paulo Vidal Campregher; Marco Tartaglia; Dmitriy Sonkin
err分享
err收藏
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo斑马鱼col4a1功能丧失模型模拟了COL4A1/A2综合征的关键神经血管和眼部特征，并实现了对人类变异体的体内评估。
errMatrix Biology
IF4.8
err2025-11-15
err0
PREAI
errGraziamaria Paradisi; Valeria Bonavolontà; Martina Venditti; Giulia Fasano; Catia Pedalino; Filippo Del Bene; Marco Tartaglia; Antonella Lauri
err分享
err收藏
To sign or not to sign: Is this still the question?签署与否：这仍然是个问题吗？
errEuropean Journal of Human Genetics
IF4.6
err2025-10-26
err0
PREAI
errMarco Tartaglia; Andrea Ciolfi
err分享
err收藏
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer神经纤维瘤病1型相关乳腺癌的亚型分布、临床特征及分子谱
errThe Breast
IF0
err2025-10-22
err0
errOAAI
errNiccolò Di Giosaffatte; Paola Daniele; Francesco Petrizzelli; Chiara Iacovino; Chiara Canciani; Maria Luisa Garau; Claudia Santoro; Valentina Trevisan; Arianna Panfili; Stefania Cavone; Valentina Guida; Maria Cecilia D’Asdia; Laura Bernardini; Silvia Majore; Alessandro Ferraris; Michele Valiante; Francesca Gensini; Francesca Clementina Radio; Giada Tortora; Matteo Cassina; Giuseppina Miele; Manuela Priolo; Fabio Sirchia; Ludovica Piccinno; Elisabetta Flex; Giuseppe Zampino; Maurizio Genuardi; Vincenzo Nigro; Leonardo Salviati; Laura Papi; Paola Grammatico; Chiara Leoni; Giulio Piluso; Sandra Giustini; Tommaso Mazza; Meena Upadhyaya; Marco Tartaglia; Eva Trevisson; Alessandro De Luca
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err收藏
Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional studyNoonan综合征和Noonan综合征伴多发色素痣中与自闭症谱系障碍相关特征的基因型-表型相关性：一项横断面研究
errMolecular Autism
IF5.5
err2025-10-13
err0
errOAAI
errChloe Alexa McGhee; Julia R. Plank; Luca Pannone; Odeya Russo; Naomi Fuhrmann; Aurora Ruggeri; Francesca Clementina Radio; Simone Martinelli; Marco Tartaglia; Tamar Green
err分享
err收藏
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular MusclesTUBB2B中的p.Ile202Thr替换可能与先天性眼外肌纤维化综合征表现相关。
errGenes 2025, Vol. 16, Page 1182
IF0
err2025-10-11
err0
errOAAI
errCecilia Mancini; Luigi Chiriatti; Alessandro Bruselles; Paola D’ambrosio; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Mattia Carvetta; Francesca Clementina Radio; Viviana Cordeddu; Marcello Niceta; Marta Parrino; Rossella Capolino; Corrado Mammì; Rossana Senese; Mario Muto; Manuela Priolo; Marco Tartaglia
err分享
err收藏
CANCER PREDISPOSITION SYNDROMES IN PEDIATRIC PATIENTS WITH HIGH-GRADE GLIOMAS儿童患者中高危胶质瘤的癌症易患综合征
errNEURO-ONCOLOGY
IF13.4
err2025-10-01
err0
errOAAI
errDel Baldo, G.; Cipri, S.; Boccuto, L.; Agolini, E.; Novelli, A.; Cacchione, A.; Lodi, M.; Barresi, S.; Giovannoni, I; Rossi, S.; Miele, E.; Vinci, M.; Carai, A.; Tartaglia, M.; Locatelli, F.; Mastronuzzi, A.
err分享
err收藏
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relationADSL缺陷是一种继发性线粒体疾病，呈线性基因型-表型关系，影响细胞器稳态和ERK2/AKT信号通路。
errCell Reports
IF6.9
err2025-09-05
err0
errOAAI
errMatteo Bordi; Beatrice Testa; Claudia Compagnucci; Fiorella Colasuonno; Francesca Cipressa; Elisabetta Betterini; Andrea Mancini; Claudia Carsetti; Illari Salvatori; Caterina Ferraina; Ming Yang; Rossella De Cegli; Eugenio Del Prete; Chiara Veroni; Salvatore Rizza; Sofia Mauri; Elena Ziviani; Marina Macchiaiolo; Davide Vecchio; Filippo Maria Panfili; Teresa Rizza; Gerrit Weber; Rosalba Carrozzo; Alberto Ferri; Silvia Campello; Andrea Ballabio; Christian Frezza; Gianluca Cestra; Marco Tartaglia; Andrea Bartuli; Francesco Cecconi
err分享
err收藏
Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model全基因组DNA甲基化分析鉴定出胱氨酸尿症小鼠模型中的肾脏表观遗传失调
errFrontiers in Cell and Developmental Biology
IF4.3
err2025-08-21
err0
errOAAI
errM. N. Rossi; A. Ciolfi; V. Matteo; L. Pedace; C. Nardini; E. Loricchio; I. Caiello; F. Bellomo; A. Taranta; E. De Leo; M. Tartaglia; F. Emma; F. De Benedetti; E. Miele; G. Prencipe
err分享
err收藏
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation ProfilingAngelman综合征的诊断，延迟66年后，采用无假设的DNA甲基化谱分析
errClinical Genetics
IF2.3
err2025-06-15
err0
errOAAI
errMathis Hildonen; Marco Ferilli; Ilona Krey; Oona Kohnen; Camilla Cappelletti; Konrad Platzer; Andrea Ciolfi; Rami Abou Jamra; Marco Tartaglia; Zeynep Tümer
err分享
err收藏
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociZNF142基因的双等位基因失活变异与一种强烈的DNA甲基化特征相关，该特征影响有限的基因组位点。
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-05-23
err0
PREAI
errHildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, Marco
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研究方向

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合作学者
合作期刊
F
Franco Locatelli
H 指数: 125 · 论文数: 2.2K
H
Henry Houlden
H 指数: 120 · 论文数: 1.5K
A
Andrea Biondi
H 指数: 118 · 论文数: 1.2K
G
Gordon K. Smyth
H 指数: 113 · 论文数: 595
E
Enrico Bertini
H 指数: 113 · 论文数: 1.3K
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