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Author/Creator Gokhale, David

1. 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) ↗

2. 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) ↗