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Page 1
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: cato ld. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
Variant to function mapping at single-cell resolution through network propagation.
Yu F, Cato LD, Weng C, Liggett LA, Jeon S, Xu K, Chiang CWK, Wiemels JL, Weissman JS, de Smith AJ, Sankaran VG. Yu F, et al. Among authors: cato ld. bioRxiv [Preprint]. 2022 Jan 24:2022.01.23.477426. doi: 10.1101/2022.01.23.477426. bioRxiv. 2022. PMID: 35118467 Free PMC article. Updated. Preprint.
Genetic regulation of fetal hemoglobin across global populations.
Cato LD, Li R, Lu HY, Yu F, Wissman M, Mkumbe BS, Ekwattanakit S, Deelen P, Mwita L, Sangeda R, Suksangpleng T, Riolueang S, Bronson PG, Paul DS, Kawabata E, Astle WJ, Aguet F, Ardlie K, de Lapuente Portilla AL, Kang G, Zhang Y, Nouraie SM, Gordeuk VR, Gladwin MT, Garrett ME, Ashley-Koch A, Telen MJ, Custer B, Kelly S, Dinardo CL, Sabino EC, Loureiro P, Carneiro-Proietti AB, Maximo C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; BIOS Consortium; Méndez A, Hammerer-Lercher A, Sheehan VA, Weiss MJ, Franke L, Nilsson B, Butterworth AS, Viprakasit V, Nkya S, Sankaran VG. Cato LD, et al. medRxiv [Preprint]. 2023 Mar 28:2023.03.24.23287659. doi: 10.1101/2023.03.24.23287659. medRxiv. 2023. PMID: 36993312 Free PMC article. Preprint.
Variant to function mapping at single-cell resolution through network propagation.
Yu F, Cato LD, Weng C, Liggett LA, Jeon S, Xu K, Chiang CWK, Wiemels JL, Weissman JS, de Smith AJ, Sankaran VG. Yu F, et al. Among authors: cato ld. Nat Biotechnol. 2022 Nov;40(11):1644-1653. doi: 10.1038/s41587-022-01341-y. Epub 2022 Jun 6. Nat Biotechnol. 2022. PMID: 35668323 Free PMC article.
Inherited blood cancer predisposition through altered transcription elongation.
Zhao J, Cato LD, Arora UP, Bao EL, Bryant SC, Williams N, Jia Y, Goldman SR, Nangalia J, Erb MA, Vos SM, Armstrong SA, Sankaran VG. Zhao J, et al. Among authors: cato ld. Cell. 2024 Feb 1;187(3):642-658.e19. doi: 10.1016/j.cell.2023.12.016. Epub 2024 Jan 12. Cell. 2024. PMID: 38218188 Free article.
Shared and distinct genetic etiologies for different types of clonal hematopoiesis.
Brown DW, Cato LD, Zhao Y, Nandakumar SK, Bao EL, Gardner EJ, Hubbard AK, DePaulis A, Rehling T, Song L, Yu K, Chanock SJ, Perry JRB, Sankaran VG, Machiela MJ. Brown DW, et al. Among authors: cato ld. Nat Commun. 2023 Sep 8;14(1):5536. doi: 10.1038/s41467-023-41315-5. Nat Commun. 2023. PMID: 37684235 Free PMC article.
Clonal hematopoiesis in sickle cell disease.
Liggett LA, Cato LD, Weinstock JS, Zhang Y, Nouraie SM, Gladwin MT, Garrett ME, Ashley-Koch A, Telen MJ, Custer B, Kelly S, Dinardo CL, Sabino EC, Loureiro P, Carneiro-Proietti AB, Maximo C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Reiner AP, Abecasis GR, Williams DA, Natarajan P, Bick AG, Sankaran VG. Liggett LA, et al. Among authors: cato ld. J Clin Invest. 2022 Feb 15;132(4):e156060. doi: 10.1172/JCI156060. J Clin Invest. 2022. PMID: 34990411 Free PMC article. Clinical Trial.
A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children.
de Smith AJ, Wahlster L, Jeon S, Kachuri L, Black S, Langie J, Cato LD, Nakatsuka N, Chan TF, Xia G, Mazumder S, Yang W, Gazal S, Eng C, Hu D, Burchard EG, Ziv E, Metayer C, Mancuso N, Yang JJ, Ma X, Wiemels JL, Yu F, Chiang CWK, Sankaran VG. de Smith AJ, et al. Among authors: cato ld. Cell Genom. 2024 Apr 10;4(4):100526. doi: 10.1016/j.xgen.2024.100526. Epub 2024 Mar 26. Cell Genom. 2024. PMID: 38537633 Free PMC article.
Outcomes of gynecologic cancer surgery during the COVID-19 pandemic: an international, multicenter, prospective CovidSurg-Gynecologic Oncology Cancer study.
Fotopoulou C, Khan T, Bracinik J, Glasbey J, Abu-Rustum N, Chiva L, Fagotti A, Fujiwara K, Ghebre R, Gutelkin M, Konney TO, Ng J, Pareja R, Kottayasamy Seenivasagam R, Sehouli J, Surappa STS, Bhangu A, Leung E, Sundar S; CovidSurg Gynecological Cancer Collaborators. Fotopoulou C, et al. Am J Obstet Gynecol. 2022 Nov;227(5):735.e1-735.e25. doi: 10.1016/j.ajog.2022.06.052. Epub 2022 Jun 30. Am J Obstet Gynecol. 2022. PMID: 35779589 Free PMC article.
35 results