JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Bron
Genetics in medicine - ISSN 1098-3600-23:2 (2021) p. 374-383
Auteur(s)
    Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Saskia Maas, Abeltje Polstra, Yuri A. Zarate, Katherine A. Bosanko, Kieran B. Pechter, Emma Bedoukian, Kosuke Izumi, Ayeshah Chaudhry, Nathaniel H. Robin, Megan Boothe, Natalie C. Lippa, Vimla Aggarwal, Darryl C. De Vivo, Anna Lehman, Causes Study, Sylvia Stockler, Ange-Line Bruel, Bertrand Isidor, Jennifer Lemons, David F. Rodriguez-Buritica, Christopher M. Richmond, Zornitza Stark, Pankaj B. Agrawal, Frank Kooy, Marije Meuwissen, David A. Koolen, Rolf Pfundt, Agne Lieden, Britt-Marie Anderlid, Dagmar Glatz, Marcel M.A.M. Mannens, Madhura Bakshi, Frédérick A. Mallette, Mieke M. van Haelst, Philippe M. Campeau

Defining the phenotypical spectrum associated with variants in TUBB2A

Bron
Journal of medical genetics - ISSN 0022-2593-58:1 (2021) p. 33-40
Auteur(s)
    Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B. Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J. Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C. Jansen, Katrien Stouffs

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Bron
Genetics in medicine - ISSN 1098-3600-23:2 (2021) p. 352-362
Auteur(s)
    Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frederic Laumonnier, Annick Toutain, Frederique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna K. Chassevent, Constance Smith-Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju G. Mehta, Wendy K. Chung, Koenraad Devriendt, Susan E. Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah F. Johnson, Cornelia Daumer-Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Al-Beshri, Stephen Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sebastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Veerle Janssens

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Bron
American journal of medical genetics : part A - ISSN 1552-4825-185:2 (2021) p. 571-574
Auteur(s)
    Saskia Koene, Cacha M.P.C.D. Peeters-Scholte, Jeroen Knijnenburg, Linda S. de Vries, Phebe N. Adama van Scheltema, Marije Meuwissen, Sylke J. Steggerda, Gijs W.E. Santen