1. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016) Authors: Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes. Issue 4 (3rd September 2019) Authors: Jackson, Adam; Ward, Heather; Bromley, Rebecca Louise; Deshpande, Charulata; Vasudevan, Pradeep; Scurr, Ingrid; Dean, John; Shannon, Nora; Berg, Jonathon; Holder, Susan; Baralle, Diana; Clayton-Smith, Jill Journal: Archives of disease in childhood Issue: Volume 105:Issue 4(2020) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Grief Strikes Us All. Issue 3 (June 2019) Authors: Holder, Susan Journal: Brain & life Issue: Volume 15:Issue 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Issue 9 (11th May 2022) Authors: O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, ... Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. The clinical presentation caused by truncating CHD8 variants. Issue 1 (14th May 2019) Authors: Douzgou, Sofia; Liang, Hui Wen; Metcalfe, Kay; Somarathi, Suresh; Tischkowitz, Marc; Mohamed, Wafik; Kini, Usha; McKee, Shane; Yates, Laura; Bertoli, Marta; Lynch, Sally Ann; Holder, Susan; Banka, Siddharth Journal: Clinical genetics Issue: Volume 96:Issue 1(2019) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan. (August 2015) Authors: Drought, Alexandra; Wimalasundera, Ruwan; Holder, Susan Journal: Ultrasound Issue: Volume 23:Number 3(2015:Aug.) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗