1. A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome. Issue 1 (January 2016) Authors: Kennedy, Jim; Noel, Jacques; O'Meara, Anne; Mulhall, Kevin; Crushell, Ellen; Fogarty, Esmond; Kelly, Paula Journal: Journal of pediatric orthopaedics Issue: Volume 36:Issue 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016) Authors: Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beaulieu–Boycott–Innes syndrome: an intellectual disability syndrome with characteristic facies. Issue 4 (October 2016) Authors: Casey, Jillian; Jenkinson, Allan; Magee, Alex; Ennis, Sean; Monavari, Ahmad; Green, Andrew; Lynch, Sally A.; Crushell, Ellen; Hughes, Joanne Journal: Clinical dysmorphology Issue: Volume 25:Issue 4(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Catalogue of inherited disorders found among the Irish Traveller population. Issue 4 (22nd January 2018) Authors: Lynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M; Byrne, Niall; Gorman, Kathleen; King, Mary D; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A; Cotter, Melanie; McConnell, Vivienne P M; Kerr, Bronwyn; Jones, Simon A; Keenan, Catriona; Murphy,... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. Issue 6 (28th April 2015) Authors: Casey, Jillian P.; Slattery, Suzanne; Cotter, Melanie; Monavari, A. A.; Knerr, Ina; Hughes, Joanne; Treacy, Eileen P.; Devaney, Deirdre; McDermott, Michael; Laffan, Eoghan; Wong, Derek; Lynch, Sally Ann; Bourke, Billy; Crushell, Ellen Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency. Issue 5 (25th March 2018) Authors: Fitzsimons, Patricia E.; Alston, Charlotte L.; Bonnen, Penelope E.; Hughes, Joanne; Crushell, Ellen; Geraghty, Michael T.; Tetreault, Martine; O'Reilly, Peter; Twomey, Eilish; Sheikh, Yusra; Walsh, Richard; Waterham, Hans R.; Ferdinandusse, Sacha; Wanders, Ronald J. A.; Taylor, Robert W.; Pitt, J... Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Issue 11 (3rd May 2017) Authors: Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew AM; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilco... Journal: Archives of disease in childhood Issue: Volume 102:Issue 11(2017) Page Start: 1019 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review. Issue 1 (16th March 2022) Authors: O' Brien, Niamh; Quinn, Nuala; Joyce, Birgitta; Bedford, Helen; Crushell, Ellen Journal: BMJ paediatrics open Issue: Volume 6:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results. (24th June 2018) Authors: Clark, Anne; Deverell, Deirdre; Corcoran, Emma; Macauley, Margaret; Newcombe, Nicola; Branagan, Peter; Coughlan, Aoife; Daly, Eimear; Moore Heslin, Aoibhin; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad Other Names: Huerta José María Academic Editor. Journal: Journal of nutrition and metabolism Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients. Issue 4 (14th June 2022) Authors: Healy, Lydia; O'Shea, Meabh; McNulty, Jennifer; King, Graham; Twomey, Eilish; Treacy, Eileen; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad Ardeshir Journal: JIMD reports Issue: Volume 63:Issue 4(2022) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗