1. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. (6th February 2017) Authors: Symonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Sch... Journal: Epilepsia Issue: Volume 58:issue 4(2017) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Issue 4 (20th April 2021) Authors: Molina-Ramírez, Leslie Patricia; Kyle, Claire; Ellingford, Jamie M; Wright, Ronnie; Taylor, Algy; Bhaskar, Sanjeev S; Campbell, Christopher; Jackson, Harriet; Fairclough, Adele; Rousseau, Abigail; Burghel, George J; Dutton, Laura; Banka, Siddharth; Briggs, Tracy A; Clayton-Smith, Jill; Douzgou, S... Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗