1. Lymphatic and facial defects 1 regulates expansion of the lymphatic endothelial cell lineage upon its emergence from the cardinal vein. (July 2017) Authors: Koltowska, Kaska; Paterson, Scott; Lagendijk, Anne Karine; Chen, Huijun; Baillie, Gregory; Leshchiner, Ignat; Geossling, Wolfram; Smith, Kelly; Simons, Cas; Schulte-Merker, Stefan; Hogan, Ben Journal: Mechanisms of development Issue: Volume 145(2017)Supplement Page Start: S157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019) Authors: van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E.C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richa... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019) Authors: Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Issue 6 (11th March 2020) Authors: Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; Vanderver, Adeline; Simons, Cas Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. Issue 10 (27th June 2016) Authors: Crawford, Joanna; Bower, Neil I.; Hogan, Benjamin M.; Taft, Ryan J.; Gabbett, Michael T.; McGaughran, Julie; Simons, Cas Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Issue 12 (23rd October 2014) Authors: Hunt, David; Leventer, Richard J; Simons, Cas; Taft, Ryan; Swoboda, Kathryn J; Gawne-Cain, Mary; Magee, Alex C; Turnpenny, Peter D; Baralle, Diana Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Issue 11 (13th July 2016) Authors: Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria; Morris, Andrew A; Ulrick, Nicole; Kmoch, Stanislav; Houštěk, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvílová, Hana; Santra, Saikat; Brown, Ruth M; Brown, Garry K; Ragge, N... Journal: Journal of medical genetics Issue: Volume 53:Issue 11(2016) Page Start: 768 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. (30th April 2020) Authors: Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser,... Journal: Human molecular genetics Issue: Volume 29:Number 9(2020) Page Start: 1568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. (29th August 2017) Authors: Curiel, Julian; Rodríguez Bey, Guillermo; Takanohashi, Asako; Bugiani, Marianna; Fu, Xiaoqin; Wolf, Nicole I; Nmezi, Bruce; Schiffmann, Raphael; Bugaighis, Mona; Pierson, Tyler; Helman, Guy; Simons, Cas; van der Knaap, Marjo S; Liu, Judy; Padiath, Quasar; Vanderver, Adeline Journal: Human molecular genetics Issue: Volume 26:Number 22(2017:Nov. 15) Page Start: 4506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Issue 3 (7th September 2021) Authors: Van Bergen, Nicole J; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗