MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu Show all
Brain | OXFORD UNIV PRESS | Published : 2017
Awarded by Bogazici University
Awarded by NHMRC Career Development Fellowship
Patient A's sequencing was completed as part of a study funded and supported by the Melbourne Genomic Health Alliance. This work was supported in part by the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. Whole exome sequencing for Family C was performed as part of the Care4Rare Canada Consortium, funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec, and Children's Hospital of Eastern Ontario Foundation. Analysis of the Turkish family is supported partially by Bogazici University Research Fund Grant Number 14B01D5. The following funding sources are also gratefully acknowledged: Academy of Finland (H.T., E.Y., L.K.), Sigrid Juselius Foundation (H.T., L.K.), University of Helsinki (H.T., E.Y., M.T.), Biocentrum Helsinki (L.K.), Finska lakaresallskapet (E.Y.), Helsinki University Hospital (E.Y.), Foundation for Pediatric Research (P.I.), Fund for Scientific Research-Flanders (FWO) (A.J.), University of Antwerp (A.J.), Belgium Association for Neuromuscular Disorders (ABMM) (A.J.), research fellowships from the Fund for Scientific Research-Flanders (FWO) (D.A., A.E.-C), NHMRC Career Development Fellowship (GNT1032364) (P.J.L).