1. Cathepsin‐Mediated Alterations in TGFß‐Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting. (13th October 2015) Authors: Flanagan‐Steet, Heather; Aarnio, Megan; Kwan, Brian; Guihard, Pierre; Petrey, Aaron; Haskins, Mark; Blanchard, Frederic; Steet, Richard Journal: Journal of bone and mineral research Issue: Volume 31:Number 3(2016:Mar.) Page Start: 535 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency. Issue 2 (29th November 2022) Authors: Rudy, Natasha; Aoki, Kazuhiro; Ananth, Amitha; Holloway, Lynda; Skinner, Cindy; Hurst, Anna; Tiemeyer, Michael; Steet, Richard Journal: JIMD reports Issue: Volume 64:Issue 2(2023) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cyclopropenone-caged Sondheimer diyne (dibenzo[a, e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking. Issue 3 (5th November 2015) Authors: Sutton, Dewey A.; Yu, Seok-Ho; Steet, Richard; Popik, Vladimir V. Journal: Chemical communications Issue: Volume 52:Issue 3(2016) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures. Issue 3 (19th April 2022) Authors: Maio, Nunziata; Saneto, Russell P.; Steet, Richard; Sotero de Menezes, Marcio A.; Skinner, Cindy; Rouault, Tracey A. Journal: Brain communications Issue: Volume 4:Issue 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome. Issue 3 (5th January 2020) Authors: Neighbors, Addison; Moss, Tonya; Holloway, Lynda; Yu, Seok‐Ho; Annese, Fran; Skinner, Steve; Saneto, Russell; Steet, Richard Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Issue 5 (6th September 2022) Authors: Colonna, Maxwell B; Moss, Tonya; Mokashi, Sneha; Srikanth, Sujata; Jones, Julie R; Foley, Jackson R; Skinner, Cindy; Lichty, Angie; Kocur, Anthony; Wood, Tim; Stewart, Tracy Murray; Casero Jr., Robert A; Flanagan-Steet, Heather; Edison, Arthur S; Lyons, Michael J; Steet, Richard Journal: Human molecular genetics Issue: Volume 32:Issue 5(2023) Page Start: 732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation‐related disorders. (26th September 2016) Authors: Berger, Ryan P.; Dookwah, Michelle; Steet, Richard; Dalton, Stephen Journal: BioEssays Issue: Volume 38:Number 12(2016:Dec.) Page Start: 1255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Selective Exo‐Enzymatic Labeling of N‐Glycans on the Surface of Living Cells by Recombinant ST6Gal I1. (15th October 2013) Authors: Mbua, Ngalle Eric; Li, Xiuru; Flanagan‐Steet, Heather R.; Meng, Lu; Aoki, Kazuhiro; Moremen, Kelley W.; Wolfert, Margreet A.; Steet, Richard; Boons, Geert‐Jan Journal: Angewandte Chemie Issue: Volume 125:Number 49(2013) Page Start: 13250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Selective Exo‐Enzymatic Labeling of N‐Glycans on the Surface of Living Cells by Recombinant ST6Gal I1. Issue 49 (15th October 2013) Authors: Mbua, Ngalle Eric; Li, Xiuru; Flanagan‐Steet, Heather R.; Meng, Lu; Aoki, Kazuhiro; Moremen, Kelley W.; Wolfert, Margreet A.; Steet, Richard; Boons, Geert‐Jan Journal: Angewandte Chemie international edition Issue: Volume 52:Issue 49(2013) Page Start: 13012 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗