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Rapid and Integrative Discovery of Retina Regulatory Molecules.
Albrecht NE, Alevy J, Jiang D, Burger CA, Liu BI, Li F, Wang J, Kim SY, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gaspero A, Justice MJ, Westenskow PD, Yamamoto S, Seavitt JR, Beaudet AL, Dickinson ME, Samuel MA. Albrecht NE, et al. Among authors: kim sy. Cell Rep. 2018 Aug 28;24(9):2506-2519. doi: 10.1016/j.celrep.2018.07.090. Cell Rep. 2018. PMID: 30157441 Free PMC article.
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY; Undiagnosed Diseases Network; Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S. Harnish JM, et al. Among authors: kim sy. Hum Mutat. 2022 Jun;43(6):743-759. doi: 10.1002/humu.24364. Epub 2022 Mar 24. Hum Mutat. 2022. PMID: 35224820 Free PMC article.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Genet Med. 2024 Jun;26(6):101102. doi: 10.1016/j.gim.2024.101102. Epub 2024 Feb 29. Genet Med. 2024. PMID: 38431799 Free PMC article.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Mao D, Liu C, Wang L, Ai-Ouran R, Deisseroth C, Pasupuleti S, Kim SY, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler MF, Yamamoto S; Undiagnosed Diseases Network; Santana M, Perez V, Shukla P, Eng CM, Lee B, Yuan B, Xia F, Bellen HJ, Liu P, Liu Z. Mao D, et al. Among authors: kim sy. NEJM AI. 2024 May;1(5):10.1056/aioa2300009. doi: 10.1056/aioa2300009. Epub 2024 Apr 25. NEJM AI. 2024. PMID: 38962029 Free PMC article.
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