1. A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease. Issue 2 (21st October 2022) Authors: Seaby, Eleanor G.; Turner, Steven; Bunyan, David J.; Seyed‐Rezai, Fariba; Essex, Jonathan; Gilbert, Rodney D.; Ennis, Sarah Journal: Clinical genetics Issue: Volume 103:Issue 2(2023) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency. (11th April 2023) Authors: Pagnamenta, Alistair T.; Yu, Jing; Willis, Tracey A.; Hashim, Mona; Seaby, Eleanor G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F.; Ghali, Neeti; Atanur, Santosh S.; Ennis, Sarah; Baralle, Diana; Taylor, ... Other Names: Amor David J. Academic Editor. Journal: Human mutation Issue: Volume 2023(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy. Issue 5 (1st April 2016) Authors: Hall, Samuel R.; Stephens, Jonny R.; Seaby, Eleanor G.; Andrade, Matheus Gesteira; Lowry, Andrew F.; Parton, Will J.C.; Smith, Claire F.; Border, Scott Journal: Anatomical sciences education Issue: Volume 9:Issue 5(2016) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genome-wide Association Studies in Infectious Diseases. Issue 7 (July 2016) Authors: Seaby, Eleanor G.; Wright, Victoria J.; Levin, Michael Journal: Pediatric infectious disease journal Issue: Volume 35:Issue 7(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Issue 2 (14th December 2017) Authors: Moysés‐Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard J.; Rosenfeld, Jill A.; Petit, Florence; Soares, Maria de Fatima; Kulikowski, Leslie Domenici; Di‐Battista, Adriana; Zamariolli, Malú; Xia, Fan; Liehr, Thomas; Kosyakova, Nadezda; Carvalheira, Gianna; Parker, Michael; Seaby, Eleanor G.;... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The Efficacy of Frontline Near‐Peer Teaching in a Modern Medical Curriculum. Issue 3 (17th October 2018) Authors: Harrison, Charlotte H.; Elmansouri, Ahmad; Parton, William; Myers, Matthew A.; Hall, Samuel; Stephens, Jonny R.; Seaby, Eleanor G.; Border, Scott Journal: Anatomical sciences education Issue: Volume 12:Issue 3(2019) Page Start: 236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies. Issue 9 (27th June 2022) Authors: Melgar, Michael; Seaby, Eleanor G.; McArdle, Andrew J.; Young, Cameron C.; Campbell, Angela P.; Murray, Nancy L.; Patel, Manish M.; Levin, Michael; Randolph, Adrienne G.; Son, Mary Beth F. Journal: ACR open rheumatology Issue: Volume 4:Issue 9(2022) Page Start: 804 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗