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12.16. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Y Luo , A Eran , N Palmer , P Avillach , A Levy-Moonshine , P Szolovits , IS Kohane

Nat Med. 2020 Sep;26(9):13751379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...

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ey0016.14-13 | (1) | ESPEYB16

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

To read the full abstract: N Engl J Med 2018;379:21312139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...

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ESPE Yearbook of Paediatric Endocrinology

12.16. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

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