1. Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. Issue 3 (8th December 2019) Authors: Louie, Raymond J.; Friez, Michael J.; Skinner, Cindy; Baraitser, Michael; Clark, Robin D.; Schwartz, Charles E.; Stevenson, Roger E. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 595 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. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. (1st July 2015) Authors: Godler, David E.; Inaba, Yoshimi; Schwartz, Charles E.; Bui, Quang M.; Shi, Elva Z.; Li, Xin; Herlihy, Amy S.; Skinner, Cindy; Hagerman, Randi J.; Francis, David; Amor, David J.; Metcalfe, Sylvia A.; Hopper, John L.; Slater, Howard R. Journal: Expert reviews in molecular medicine Issue: Volume 17(2015) Page Start: 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. Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. Issue 5 (11th May 2012) Authors: Bedoyan, Jirair Krikor; Schaibley, Valerie M; Peng, Weiping; Bai, Yongsheng; Mondal, Kajari; Shetty, Amol C; Durham, Mark; Micucci, Joseph A; Dhiraaj, Arti; Skidmore, Jennifer M; Kaplan, Julie B; Skinner, Cindy; Schwartz, Charles E; Antonellis, Anthony; Zwick, Michael E; Cavalcoli, James D; Li, J... Journal: Journal of medical genetics Issue: Volume 49:Issue 5(2012) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders. Issue 4 (6th February 2019) Authors: Srivastava, Siddharth; Niranjan, Tejasvi; May, Melanie M.; Tarpey, Patrick; Allen, William; Hackett, Anna; Jouk, Pierre‐Simon; Raymond, Lucy; Briault, Slyvain; Skinner, Cindy; Toutain, Annick; Gecz, Jozef; Heath, William; Stevenson, Roger E.; Schwartz, Charles E.; Wang, Tao Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 4(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots. (1st July 2014) Authors: Inaba, Yoshimi; Schwartz, Charles E; Bui, Quang M; Li, Xin; Skinner, Cindy; Field, Michael; Wotton, Tiffany; Hagerman, Randi J; Francis, David; Amor, David J; Hopper, John L; Loesch, Danuta Z; Bretherton, Lesley; Slater, Howard R; Godler, David E Journal: Clinical chemistry Issue: Volume 60:Number 7(2014) Page Start: 963 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Issue 3 (18th August 2022) Authors: McGee, Stacey R; Rajamanickam, Shivakumar; Adhikari, Sandeep; Falayi, Oluwatosin C; Wilson, Theresa A; Shayota, Brian J; Cooley Coleman, Jessica A; Skinner, Cindy; Caylor, Raymond C; Stevenson, Roger E; Quaio, Caio Robledo D' Angioli Costa; Wilke, Berenice Cunha; Bain, Jennifer M; Anyane-Yeboa, K... Journal: Human molecular genetics Issue: Volume 32:Issue 3(2023) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. (18th December 2017) Authors: Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzońca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosińska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax... Journal: Human molecular genetics Issue: Volume 27:Number 4(2018:Feb. 15) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗