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Learning a Comorbidity-Driven Taxonomy of Pediatric Pulmonary Hypertension.
Ong MS, Mullen MP, Austin ED, Szolovits P, Natter MD, Geva A, Cai T, Kong SW, Mandl KD. Ong MS, et al. Among authors: kong sw. Circ Res. 2017 Aug 4;121(4):341-353. doi: 10.1161/CIRCRESAHA.117.310804. Epub 2017 Jun 13. Circ Res. 2017. PMID: 28611076 Free PMC article.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: kong sw. Genet Med. 2020 Feb;22(2):371-380. doi: 10.1038/s41436-019-0646-3. Epub 2019 Sep 4. Genet Med. 2020. PMID: 31481752 Free PMC article.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: kong sw. Genet Med. 2020 Feb;22(2):449. doi: 10.1038/s41436-019-0711-y. Genet Med. 2020. PMID: 31772351 Free PMC article.
129 results