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The New England Journal of Medicine|May 10, 2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaChristine M Laine, Kyu Sang Joeng, Philippe M Campeau, et al.Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.The Journal of Thoracic and Cardiovascular Surgery|August 5, 2015
Appropriate patient selection or health care rationing? Lessons from surgical aortic valve replacement in the Placement of Aortic Transcatheter Valves I trialWilson Y Szeto, Lars G Svensson, Jeevanantham Rajeswaran, et al.Human Mutation|November 2, 2006
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansJoan C Marini, Antonella Forlino, Wayne A Cabral, et al.American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.Physical Review Letters|February 7, 2003
First results from KamLAND: evidence for reactor antineutrino disappearanceK Eguchi, S Enomoto, K Furuno, et al.Pageof 79