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Items: 3

1.
Severe infantile-onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45
Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C. Mefford, Ingrid E. Scheffer
Epilepsia. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Epilepsia. 2018 Jan; 59(1): e5–e13. Published online 2017 Nov 24. doi: 10.1111/epi.13957
PMCID:
PMC5760358
AbstractArticlePDF–461K
2.
PtdIns-specific MPR Pathway Association of a Novel WD40 Repeat Protein, WIPI49
Tim R. Jeffries, Stephen K. Dove, Robert H. Michell, Peter J. Parker
Mol Biol Cell. 2004 Jun; 15(6): 2652–2663. doi: 10.1091/mbc.E03-10-0732
PMCID:
PMC420090
AbstractArticlePDF–1.2M
3.
Identification of intellectual disability genes in female patients with a skewed X inactivation pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koen Devriendt, Monica Rosello, Sonia Mayo, Francisco Martinez, Shalini Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris R. Vermeesch, Peter Marynen, Guy Froyen
Hum Mutat. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Hum Mutat. 2016 Aug; 37(8): 804–811. Published online 2016 May 25. doi: 10.1002/humu.23012
PMCID:
PMC4940233
AbstractArticlePDF–114K

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