1. Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. Issue 4 (12th November 2019) Authors: Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Baralle, Diana; Blair, Edward; Douzgou, Sofia; Field, Michael; Foster, Alison; Kyle, Claire; Lachlan, Katherine; Mansour, Sahar; Naik, Swati; Rea, Gillian; Smithson, Sarah; Sznajer, Yves; Thompson, Elizabeth; Cole, Trevor; Tatton‐Brown, Katrina Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 638 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 diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience. (5th July 2021) Authors: Molina‐Ramírez, Leslie P.; Burkitt‐Wright, Emma MM.; Saeed, Haroon; McDermott, John H.; Kyle, Claire; Wright, Ronnie; Campbell, Christopher; Bhaskar, Sanjeev S.; Taylor, Algy; Dutton, Laura; Forde, Claire; Metcalfe, Kay; Smith, Audrey; Clayton‐Smith, Jill; Douzgou, Sofia; Chandler, Kate; Briggs, ... Journal: Clinical otolaryngology Issue: Volume 46:Number 6(2021) Page Start: 1257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗