1. Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences. (June 2021) Authors: Baker, Kate; Devine, Rory T.; Ng-Cordell, Elise; Raymond, F. Lucy; Hughes, Claire Other Names: collab. Journal: British journal of psychiatry Issue: Volume 218:Number 6(2021) Page Start: 315 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. (21st March 2023) Authors: Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De ... Journal: Neurology Issue: Volume 100:Number 12(2023) Page Start: e1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Issue 4 (7th February 2019) Authors: Nicola, Pantelis; Blackburn, Patrick R.; Rasmussen, Kristen J.; Bertsch, Nicole L.; Klee, Eric W.; Hasadsri, Linda; Pichurin, Pavel N.; Rankin, Julia; Raymond, F. Lucy; Clayton‐Smith, Jill Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the expanding phenotype associated with SCAPER gene mutation. Issue 8 (13th June 2019) Authors: Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, ... Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1665 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia. Issue 8 (30th May 2020) Authors: Ng, Joanne; Cortès‐Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J.R.; Pope, Simon; Biassoni, Lorenzo; Csányi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Debora... Journal: Movement disorders Issue: Volume 35:Issue 8(2020) Page Start: 1357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. (9th April 2015) Authors: Baker, Kate; Astle, Duncan E.; Scerif, Gaia; Barnes, Jessica; Smith, Jennie; Moffat, Georgina; Gillard, Jonathan; Baldeweg, Torsten; Raymond, F. Lucy Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. (April 2017) Authors: Danti, Federica Rachele; Galosi, Serena; Romani, Marta; Montomoli, Martino; Carss, Keren J.; Raymond, F. Lucy; Parrini, Elena; Bianchini, Claudia; McShane, Tony; Dale, Russell C.; Mohammad, Shekeeb S.; Shah, Ubaid; Mahant, Neil; Ng, Joanne; McTague, Amy; Samanta, Rajib; Vadlamani, Gayatri; Valent... Journal: Neurology Issue: Volume 3:Number 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins. Issue 2 (30th January 2023) Authors: Hasenahuer, Marcia A.; Sanchis-Juan, Alba; Laskowski, Roman A.; Baker, James A.; Stephenson, James D.; Orengo, Christine A.; Raymond, F. Lucy; Thornton, Janet M. Journal: Journal of molecular biology Issue: Volume 435:Issue 2(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Issue 10 (25th July 2022) Authors: Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smit... Journal: Movement disorders Issue: Volume 37:Issue 10(2022) Page Start: 2139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation. Issue 7 (29th April 2019) Authors: Jones, Hannah F.; Morales‐Briceño, Hugo; Barwick, Katy; Lewis, Jennifer; Sanchis‐Juan, Alba; Raymond, F. Lucy; Stewart, Kirsty; Waugh, Mary‐Clare; Mahant, Neil; Kurian, Manju A.; Dale, Russell C.; Mohammad, Shekeeb S. Journal: Movement disorders Issue: Volume 34:Issue 7(2019) Page Start: 1079 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗