1. 17 Using whole genome sequencing to make new diagnoses in paediatrics: successes, challenges and lifelong learning. (22nd November 2019) Authors: Menzies, Lara; Morrogh, Deborah; Cullup, Thomas; Buckton, Andrew; Clement, Emma; Kumar, Ajith; Hurst, Jane Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 39 Genomics MDMs need YOU! the changing shape of genomic data interpretation and reporting. (22nd November 2019) Authors: Nutan, Savita; Puvirajasinghe, Clinda; Clement, Emma Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 56 Parent and health professional experiences and views of genome sequencing for rapid diagnosis in critically ill children. (22nd November 2019) Authors: Hill, Melissa; Hammond, Jennifer; Lewis, Celine; Mellis, Rhiannon; Clement, Emma; Chitty, Lyn Journal: Archives of disease in childhood Issue: Volume 104:Supplement 4(2019) Page Start: A23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 69 Looking beyond no primary findings in the 100, 000 genomes project: can additional bioinformatics analysis reveal diagnoses?. (22nd November 2019) Authors: Hay, Eleanor; Morrogh, Deborah; Clement, Emma; Ashton, Emma; Buckton, Andrew; Lombard, Patrick; Faravelli, Francesca; Kumar, Ajith; Hurst, Jane; Chitty, Lyn; Scott, Richard Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017) Authors: Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Issue 4 (6th September 2022) Authors: Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Våtevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, T... Journal: Human molecular genetics Issue: Volume 32:Issue 4(2023) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome. Issue 2 (August 2019) Authors: Welters, Alena; El-Khairi, Ranna; Dastamani, Antonia; Bachmann, Nadine; Bergmann, Carsten; Gilbert, Clare; Clement, Emma; Hurst, Jane A; Quercia, Nada; Wasserman, Jonathan D; Meissner, Thomas; Shah, Pratik; Kummer, Sebastian Journal: European journal of endocrinology Issue: Volume 181:Issue 2(2019) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Issue 11 (26th July 2018) Authors: Mestek-Boukhibar, Lamia; Clement, Emma; Jones, Wendy D; Drury, Suzanne; Ocaka, Louise; Gagunashvili, Andrey; Le Quesne Stabej, Polona; Bacchelli, Chiara; Jani, Nital; Rahman, Shamima; Jenkins, Lucy; Hurst, Jane A; Bitner-Glindzicz, Maria; Peters, Mark; Beales, Philip L; Williams, Hywel J Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Issue 4 (October 2016) Authors: Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; Yau, Shu; Lillis, Suzanne; Hurst, Jane A.; Clement, Emma; Reardon, William; Joss, Shelagh; Hobson, Emma; Blyth, Moira; Al-Shehhi, Maryam; Lynch, Sally A.; Suri, Mohnish 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) ↗