Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Author:

Palmer Elizabeth E.1234ORCID,Schofield Deborah456,Shrestha Rupendra5,Kandula Tejaswi12,Macintosh Rebecca1,Lawson John A.12,Andrews Ian12,Sampaio Hugo12,Johnson Alexandra M.12,Farrar Michelle A.12,Cardamone Michael12,Mowat David12,Elakis George7,Lo William7,Zhu Ying37,Ying Kevin4,Morris Paula4,Tao Jiang48,Dias Kerith-Rae4,Buckley Michael7,Dinger Marcel E.48,Cowley Mark J.48,Roscioli Tony17,Kirk Edwin P.127,Bye Ann12,Sachdev Rani K.12

Affiliation:

1. Sydney Children's Hospital; Randwick NSW Australia

2. School of Women's and Children's Health; UNSW Medicine; The University of New South Wales; Sydney NSW Australia

3. Genetics of Learning Disability Service; Waratah NSW Australia

4. The Garvan Institute for Medical Research; Darlinghurst, Sydney NSW Australia

5. Faculty of Pharmacy; The University of Sydney; Sydney NSW Australia

6. The Murdoch Children's Research Institute; Melbourne Vic. Australia

7. SEALS pathology; Randwick NSW Australia

8. St Vincent's Clinical School; University of New South Wales; Sydney NSW Australia

Funder

Kinghorn Foundation

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

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