Sotos syndrome : deep neuroimaging phenotyping reveals a high prevalence of malformations of cortical development

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American journal of neuroradiology - ISSN 0195-6108-45:10 (2024) p. 1570-1577
Auteur(s)
    Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Felice D'Arco, Ulrike Lobel, Marta Gomez-Chiari, Mercedes Serrano, Merce Bolasell, Kartik Reddy, Liat Ben-Sira, Reem Zakzouk, Amal Al-Hashem, David M. Mirsky, Rajan Patel, Rupa Radhakrishnan, Karuna Shekdar, Matthew T. Whitehead, Kish Mankad

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

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Brain - ISSN 0006-8950-147:8 (2024) p. 2775-2790
Auteur(s)
    Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry L. Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucian, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Lobel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten Lequin, Kshitij Mankad

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

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Biological psychiatry - ISSN 0006-3223-85:4 (2019) p. 287-297
Auteur(s)
    Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransen, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabiola Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurelia Jacquette, Laurence Faivre, Stephane Bezieau, Bertrand Isidor, Angelika Riess, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Leah Slattery