1. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014) Authors: Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combining clinical, radiological and genetic approaches to pneumothorax management. Issue 2 (18th June 2021) Authors: Grimes, Hannah L; Holden, Simon; Babar, Judith; Karia, Sumit; Wetscherek, Maria TA; Barker, Allanah; Herre, Jurgen; Knolle, Martin D; Maher, Eamonn R; Marciniak, Stefan John Journal: Thorax Issue: Volume 77:Issue 2(2022) Page Start: 196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. Issue 6 (7th May 2021) Authors: Cairns, Lauren M; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Németh, Andrea H; Holden, Simon; Douglas, Andrew G L Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension. (February 2021) Authors: Swietlik, Emilia M.; Greene, Daniel; Zhu, Na; Megy, Karyn; Cogliano, Marcella; Rajaram, Smitha; Pandya, Divya; Tilly, Tobias; Lutz, Katie A.; Welch, Carrie C.L.; Pauciulo, Michael W.; Southgate, Laura; Martin, Jennifer M.; Treacy, Carmen M.; Penkett, Christopher J.; Stephens, Jonathan C.; Bogaard... Journal: Circulation Issue: Volume 14:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, structural, biochemical and X‐ray crystallographic correlates of pathogenicity for variants in the C‐propeptide region of the COL3A1 gene. (5th April 2015) Authors: Stembridge, Natasha S.; Vandersteen, Anthony M.; Ghali, Neeti; Sawle, Philip; Nesbitt, Mandy; Pollitt, Rebecca C.; Ferguson, David J. P.; Holden, Simon; Elmslie, Frances; Henderson, Alex; Hulmes, David J. S.; Pope, F.Michael Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?. Issue 10 (28th September 2019) Authors: Andrews, Katrina; Prapa, Matina; Radford, Elizabeth; Simonic, Ingrid; Holden, Simon; Belteki, Gusztav Journal: Archives of disease in childhood Issue: Volume 105:Issue 10(2020) Page Start: 1021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Issue 3 (2nd March 2017) Authors: Reid, Emma S.; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B.; Clayton, Peter T. Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 385 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗