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Nature Genetics|February 5, 2013
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomasMiriam J Smith, James O'Sullivan, Sanjeev S Bhaskar, et al.Journal of Neurosurgery|February 7, 2025
Outcomes following stereotactic radiosurgery for high-grade brain arteriovenous malformations: a systematic review and meta-analysisImran Farhad, Adam Ridzuan-Allen, Saniya Ansari, et al.Current Biology : CB|February 5, 2025
Eye saccades align optic flow with retinal specializations during object pursuit in freely moving ferretsDamian J Wallace, Kay-Michael Voit, Daniela Martin Machado, et al.American Journal of Human Genetics|January 25, 2003
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathyKristien Verhoeven, Peter De Jonghe, Katrien Coen, et al.Resuscitation|March 19, 2018
Out-of-hospital cardiac arrest survival in international airportsSiobhán Masterson, Bryan McNally, John Cullinan, et al.American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.American Journal of Human Genetics|December 31, 2004
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationKenneth E White, Jose M Cabral, Siobhan I Davis, et al.Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.Pageof 15