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Research Interests

Papers共 128 篇Author StatisticsCo-AuthorSimilar Experts

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ARID1B-related Disorder in 87 Adults: Natural History and Self-Sustainability
P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot,A. Faudet, G. Vasileiou, M. Walther,S.A. Schrier Vergano, M. Alders,F.S. Alkuraya, I. Alorainy,H.S. Alsaif, B. Anderlid,I. Bache, I. van Beek, M. Blanluet,B.W. van Bon,T. Brunet
Genetics in Medicine Openpp.101873, (2024)
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Delineating the neurobiological mechanisms involved in SETBP1-haploinsufficiency disorder using human brain organoids and transcriptomics
Maggie Wong,Joery den Hoed, Willemijn Claassen,Lukas Lutje, Aroa Elortza-Payros,Bregje van Bon, Simon Fisher
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 461-461
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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: 129

#Citation: 9250

H-Index: 43

G-Index: 96

Sociability: 8

Diversity: 3

Activity: 22

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