Research Interests

Papers共 84 篇Author StatisticsCo-AuthorSimilar Experts

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Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
Maria Cristina Aspromonte, Alessio Del Conte,Roberta Polli,Demetrio Baldo,Francesco Benedicenti,Elisa Bettella,Stefania Bigoni, Stefania Boni,Claudia Ciaccio, Stefano D’Arrigo, Ilaria Donati,Elisa Granocchio, Isabella Mammi, Donatella Milani,Susanna Negrin, Margherita Nosadini,Fiorenza Soli,Franco Stanzial,Licia Turolla, Damiano Piovesan, Silvio C.E. Tosatto,Alessandra Murgia,Emanuela Leonardi
crossref（2024）
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Clinical and Molecular Characterization of FOXP1 Variants in Subjects with Neurodevelopmental Disorders
Elisa Bettella, Denis Drongitis,Roberta Polli, Lucia Verrillo,Emanuela Leonardi, Marilena Cameran, Matteo Della Monica, Roberta Cernetti, Chiara Spitalieri,Franco Stanzial,Demetrio Baldo,Licia Turolla, Donatella Milani, Giuseppe Cossu, Maria Giuseppina Miano,Alessandra Murgia
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 187-187
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CERT1 Mutations Perturb Human Development by Disrupting Sphingolipid Homeostasis
Charlotte Gehin,Museer A. Lone,Winston Lee,Laura Capolupo,Sylvia Ho, Adekemi M. Adeyemi,Erica H. Gerkes,Alexander P. A. Stegmann,Estrella Lopez-Martin,Eva Bermejo-Sanchez,Beatriz Martinez-Delgado,Christiane Zweier,Cornelia Kraus,Bernt Popp,Vincent Strehlow,Daniel Graefe, Ina Knerr, Eppie R. Jones,Stefano Zamuner,Luciano A. Abriata,Vidya Kunnathully,Brandon E. Moeller,Anthony Vocat,Samuel Rommelaere, Jean-Philippe Bocquete,Evelyne Ruchti,Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat,Petra Henklein,Christian Gilissen,Bregje W. van Bon,Rolph Pfundt,Marjolein H. Willemsen,Jolanda H. Schieving,Emanuela Leonardi,Fiorenza Soli,Alessandra Murgia,Hui Guo,Qiumeng Zhang,Kun Xia,Christina R. Fagerberg,Christoph P. Beier,Martin J. Larsen,Irene Valenzuela,Paula Fernandez-alvarez,Shiyi Xiong,Robert Smigiel,Vanesa Lopez-Gonzalez,Lluis Armengol,Manuela Morleo, Angelo Selicorni,Annalaura Torella,Moira Blyth,Nicola S. Cooper,Valerie Wilson,Renske Oegema,Yvan Herenger,Aurore Garde,Ange-Line Bruel,Frederic Tran Mau-Them,Alexis B. R. Maddocks,Jennifer M. Bain,Musadiq A. Bhat,Gregory Costain,Peter Kannu,Ashish Marwaha,Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson,Vykuntaraju K. Gowda,Varunvenkat M. Srinivasan,Yask Gupta,Tze Y. Lim,Simone Sanna-Cherchi,Bruno Lemaitre,Toshiyuki Yamaji,Kentaro Hanada,John E. Burke, Ana Marjia Jaksic,Brian D. McCabe,Paolo De Los Rios,Thorsten Hornemann,Giovanni D'Angelo,Vincenzo A. Gennarino
˜The œJournal of clinical investigation/˜The œjournal of clinical investigationno. 10 (2023)
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Author Statistics

#Papers: 84

#Citation: 2230

H-Index: 23

G-Index: 47

Sociability: 7

Diversity: 0

Activity: 0

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