Journal article

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou

Journal of Genetics and Genomics | SCIENCE PRESS | Published : 2020

Grants

Awarded by Italian Ministry of Health Young Investigator


Awarded by Fondazione Istituto di Ricerca Pediatrica e Citta della Speranza


Awarded by Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG)


Funding Acknowledgements

We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and Research Training Program scholarship (to S.K.). The work conducted at the University of Padova was supported by Italian Ministry of Health Young Investigator (GR-2011-02347754 to E.L.), and Fondazione Istituto di Ricerca Pediatrica e Citt~a della Speranza (18-04 to E.L.). We acknowledge the Victorian Clinical Genetics Services for performing whole exome sequencing (WES). We also thank Chris Ieng and Damien Zammit for running the next-generation sequencing data on Cpipe. We would also like to acknowledge Vanessa Atkinson and Dr. Karen Carpenter from Diagnostic Genomics Laboratory, PathWest, for performing sequencing on individual 3. Recruitment and data collection of individual 7 was supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) (1116976).