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. 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) ↗
4. 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) ↗
5. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. Issue 10 (26th April 2021) Authors: Balestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Møller, Rikke S; Ri... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 10(2021) Page Start: 1044 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗