Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne; Caroline Nava; Boris Keren; Solveig Heide; AgnSs Rastetter; Sandrine Passemard; Sandra Chantot-Bastaraud; Marie-Laure Moutard; Pankaj B Agrawal; Grace VanNoy; Joan M Stoler; David J Amor; Thierry Billette de Villemeur; Diane Doummar; Caroline Alby; Valerie Cormier-Daire; Catherine Garel; Pauline Marzin; Sophie Scheidecker; Anne de Saint-Martin; Edouard Hirsch; Christian Korff; Armand Bottani; Laurence Faivre; Alain Verloes; Christine Orzechowski; Lydie Burglen; Bruno Leheup; Joelle Roume; Joris Andrieux; Frenny Sheth; Chaitanya Datar; Michael J Parker; Laurent Pasquier; Sylvie Odent; Sophie Naudion; Marie-Ange Delrue; Cedric Le Caignec; Marie Vincent; Bertrand Isidor; Florence Renaldo; Fiona Stewart; Annick Toutain; Udo Koehler; Birgit Hackl; Celina von Stulpnagel; Gerhard Kluger; Rikke S Moller; Deb Pal; Tord Jonson; Maria Soller; Nienke E Verbeek; Mieke M van Haelst; Carolien de Kovel; Bobby Koeleman; Glen Monroe; Gijs van Haaften; DDD Study; Tania Attie-Bitach; Lucile Boutaud; Delphine Heron; Cyril Mignot

Journal article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, AgnSs Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B Agrawal, Grace VanNoy, Joan M Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valerie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin Show all

Human Genetics | SPRINGER | Published : 2017

DOI: 10.1007/s00439-017-1772-0

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University of Melbourne Researchers

David Amor Author Paediatrics Royal Children's Hospital

Grants

Awarded by PHRC

Awarded by Fondation de France (FdF-Engt)

Awarded by "Investissements d'Avenir" programme

Awarded by Medical Research Council

Funding Acknowledgements

This study was financially supported by the Assistance Publique des Hopitaux de Paris (AP-HP), PHRC (no PO81260), INSERM, Fondation Maladies Rares, Fondation de France (FdF-Engt no 15144), Agence de la Biomedecine, Agence Nationale de la Recherche (ANR Blanc CILAXCAL), and the "Investissements d'Avenir" programme ANR-10-IAIHU-06 (IHU-A-ICM). Dr Solveig Heide was supported by a master grant from the Fondation pour la Recherche Medicale (FRM). CD and CN are members of the Biopsy labex.