M
Marie Claire Y. de Wit
Researcher at Erasmus University Rotterdam
Publications - 20
Citations - 743
Marie Claire Y. de Wit is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Polymicrogyria & Retrospective cohort study. The author has an hindex of 12, co-authored 20 publications receiving 476 citations. Previous affiliations of Marie Claire Y. de Wit include Boston Children's Hospital & Erasmus University Medical Center.
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Journal ArticleDOI
Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands
Johanna M. Meulepas,Cécile M. Ronckers,Anne M. J. B. Smets,Rutger A.J. Nievelstein,Patrycja Gradowska,Choonsik Lee,Andreas Jahnen,Marcel van Straten,Marie Claire Y. de Wit,Bernard A. Zonnenberg,Willemijn M. Klein,J.H.M. Merks,Otto Visser,Flora E. van Leeuwen,Michael Hauptmann +14 more
TL;DR: Evidence is found that CT-related radiation exposure increases brain tumor risk following exposure to low-dose ionizing radiation from CT scans in childhood, and incidence of brain tumors was higher in the cohort of children with CT scans, requiring cautious interpretation of the findings.
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Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Richard S. Smith,Connor J. Kenny,Vijay S. Ganesh,Ahram Jang,Rebeca Borges-Monroy,Jennifer N. Partlow,R. Sean Hill,Taehwan Shin,Allen Y. Chen,Ryan N. Doan,Anna-Kaisa Anttonen,Jaakko Ignatius,Livija Medne,Carsten G. Bönnemann,Jonathan L. Hecht,Oili Salonen,A. James Barkovich,Annapurna Poduri,Martina Wilke,Marie Claire Y. de Wit,Grazia M.S. Mancini,László Sztriha,Kiho Im,Dina Amrom,Eva Andermann,Ritva Paetau,Anna-Elina Lehesjoki,Christopher A. Walsh,Maria K. Lehtinen +28 more
TL;DR: A unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3 is discovered, implicating SCN2A in prenatal development of human cortical language areas and underscoring the unexpected role of SCN 3A in progenitor cells and migrating neurons.
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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
Stefan Groeneweg,Robin P. Peeters,Carla Moran,Athanasia Stoupa,Françoise Auriol,Davide Tonduti,Alice Dica,Laura Paone,Klara Rozenkova,Jana Malikova,Adri van der Walt,Irenaeus F.M. de Coo,Anne McGowan,Greta Lyons,Femke K. Aarsen,D Barca,Ingrid M. van Beynum,Marieke M. van der Knoop,Jurgen Jansen,Martien Manshande,Roelineke J. Lunsing,Stan Nowak,Corstiaan A. den Uil,M. Carola Zillikens,Frank E. Visser,Paul Vrijmoeth,Marie Claire Y. de Wit,Nicole I. Wolf,Angelique Zandstra,Gautam Ambegaonkar,Yogen Singh,Yolanda B. de Rijke,Marco Medici,Enrico Bertini,Sylvia Depoorter,Jan Lebl,Marco Cappa,Linda De Meirleir,Heiko Krude,Dana Craiu,Federica Zibordi,Isabelle Oliver Petit,Michel Polak,Krishna Chatterjee,Theo J. Visser,W. Edward Visser +45 more
TL;DR: This investigator-initiated, multicentre, open-label, single-arm, phase 2, pragmatic trial investigated the effectiveness and safety of oral Triac in male paediatric and adult patients with MCT8 deficiency in eight countries in Europe and one site in South Africa.
Journal ArticleDOI
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
Sima Kheradmand Kia,Elly Verbeek,Erik Engelen,Rachel Schot,Raymond A. Poot,Irenaeus F.M. de Coo,Irenaeus F.M. de Coo,Maarten H. Lequin,Maarten H. Lequin,Cathryn J. Poulton,Farzin Pourfarzad,Frank Grosveld,António Brehm,Marie Claire Y. de Wit,Marie Claire Y. de Wit,Renske Oegema,William B. Dobyns,Frans W. Verheijen,Grazia M.S. Mancini +18 more
TL;DR: In this article, the authors identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicrogyria from two separate families and showed that Rotatin colocalizes with the basal bodies at the primary cilium.
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Pamela Magini,Daphne J. Smits,Laura Vandervore,Laura Vandervore,Rachel Schot,Marta Columbaro,Esmee Kasteleijn,Mees van der Ent,Flavia Palombo,Maarten H. Lequin,Marjolein H G Dremmen,Marie Claire Y. de Wit,Mariasavina Severino,Maria Teresa Divizia,Pasquale Striano,Natalia Ordonez-Herrera,Amal Alhashem,Ahmed Al Fares,Malak Al Ghamdi,Arndt Rolfs,Peter Bauer,Jeroen Demmers,Frans W. Verheijen,Martina Wilke,Marjon van Slegtenhorst,Peter J. van der Spek,Marco Seri,Anna Jansen,Rolf W. Stottmann,Robert B. Hufnagel,Robert J. Hopkin,Deema Aljeaid,Wojciech Wiszniewski,Pawel Gawlinski,Milena Laure-Kamionowska,Fowzan S. Alkuraya,Hanah Akleh,Valentina Stanley,Damir Musaev,Joseph G. Gleeson,Maha S. Zaki,Nicola Brunetti-Pierri,Gerarda Cappuccio,Bella Davidov,Lina Basel-Salmon,Lily Bazak,Noa Ruhrman Shahar,Aida M. Bertoli-Avella,Ghayda Mirzaa,William B. Dobyns,Tommaso Pippucci,Maarten Fornerod,Grazia M.S. Mancini +52 more
TL;DR: The data show that SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope, while its loss reveals a pathogenic mechanism in microcephaly.