1. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Issue 9975 (4th April 2015) Authors: Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netrava... Journal: Lancet Issue: Volume 385:Issue 9975(2015) Page Start: 1305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Issue 9975 (4th April 2015) Authors: Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netrava... Journal: Lancet Issue: Volume 385:Issue 9975(2015) Page Start: 1305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1, 133 families with developmental disorders. (October 2018) Authors: Wright, Caroline; McRae, Jeremy; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael; Barrett, Jeffrey; Hurles, Matthew; FitzPatrick, David; Firth, Helen Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Issue 10173 (23rd February 2019) Authors: Lord, Jenny; McMullan, Dominic J; Eberhardt, Ruth Y; Rinck, Gabriele; Hamilton, Susan J; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K; Carey, Georgina K; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R; Chandler, Kate E; Cilliers, Deirdre; Cresswell, Lara; Edwards,... Journal: Lancet Issue: Volume 393:Issue 10173(2019) Page Start: 747 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene. Issue 12 (7th October 2013) Authors: Wake, Naomi C.; Ricketts, Christopher J.; Morris, Mark R.; Prigmore, Elena; Gribble, Susan M.; Skytte, Anne‐Bine; Brown, Michael; Clarke, Noel; Banks, Rosamonde E.; Hodgson, Shirley; Turnell, Andrew S.; Maher, Eamonn R.; Woodward, Emma R. Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗