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51 results

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Page 1
Single-cell analysis of human adipose tissue identifies depot and disease specific cell types.
Vijay J, Gauthier MF, Biswell RL, Louiselle DA, Johnston JJ, Cheung WA, Belden B, Pramatarova A, Biertho L, Gibson M, Simon MM, Djambazian H, Staffa A, Bourque G, Laitinen A, Nystedt J, Vohl MC, Fraser JD, Pastinen T, Tchernof A, Grundberg E. Vijay J, et al. Among authors: cheung wa. Nat Metab. 2020 Jan;2(1):97-109. doi: 10.1038/s42255-019-0152-6. Epub 2019 Dec 23. Nat Metab. 2020. PMID: 32066997 Free PMC article.
Characterization and visualization of tandem repeats at genome scale.
Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Martínez-Cerdeño V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA. Dolzhenko E, et al. Among authors: cheung wa. Nat Biotechnol. 2024 Oct;42(10):1606-1614. doi: 10.1038/s41587-023-02057-3. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168995 Free PMC article.
Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape.
Varberg KM, Dominguez EM, Koseva B, Varberg JM, McNally RP, Moreno-Irusta A, Wesley ER, Iqbal K, Cheung WA, Schwendinger-Schreck C, Smail C, Okae H, Arima T, Lydic M, Holoch K, Marsh C, Soares MJ, Grundberg E. Varberg KM, et al. Among authors: cheung wa. Nat Commun. 2023 Aug 10;14(1):4826. doi: 10.1038/s41467-023-40424-5. Nat Commun. 2023. PMID: 37563143 Free PMC article.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Cohen ASA, et al. Among authors: cheung wa. Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305867 Free article.
Congenital Epulides-Spontaneous Regression.
Wong BJW, Cheung WS, Campbell KM. Wong BJW, et al. J Pediatr. 2019 Feb;205:287-287.e1. doi: 10.1016/j.jpeds.2018.09.023. Epub 2018 Oct 12. J Pediatr. 2019. PMID: 30322699 No abstract available.
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Chelban V, Pellerin D, Vijiaratnam N, Lee H, Goh YY, Brown L, Sambin S, Seilhean D, Lehericy S, Iruzubieta P, Mohammad R, Self E, Scardamaglia A, Lee C, Ostrozovicova M, Dicaire MJ, Girges C, Gustavsson EK, Murphy D, Curless T, Laß J, Trinh J, Rittman T, Rowe JB, Hadjivassiliou M, Archibald N, Danzi MC, Ashton C, Roth V, Wandzel M, Cheung WA, Gveric DO, De Vil B, Follett J, Leigh PN, Beichert L, Pastinen T, Bonnet C, Renaud M, Meissner WG, Sieben A, Crosiers D, Cras P, Zuchner S, Corvol JC, Farrer MJ, Synofzik M, Brais B, Warner T, Morris HR, Jaunmuktane Z, Foltynie T, Houlden H. Chelban V, et al. Among authors: cheung wa. Brain. 2025 Sep 3;148(9):3252-3265. doi: 10.1093/brain/awaf134. Brain. 2025. PMID: 40239008 Free PMC article.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: cheung wa. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Smail C, et al. Among authors: cheung wa. Nat Commun. 2024 Sep 18;15(1):8196. doi: 10.1038/s41467-024-52407-1. Nat Commun. 2024. PMID: 39294130 Free PMC article.
The transcription factor encyclopedia.
Yusuf D, Butland SL, Swanson MI, Bolotin E, Ticoll A, Cheung WA, Zhang XY, Dickman CT, Fulton DL, Lim JS, Schnabl JM, Ramos OH, Vasseur-Cognet M, de Leeuw CN, Simpson EM, Ryffel GU, Lam EW, Kist R, Wilson MS, Marco-Ferreres R, Brosens JJ, Beccari LL, Bovolenta P, Benayoun BA, Monteiro LJ, Schwenen HD, Grontved L, Wederell E, Mandrup S, Veitia RA, Chakravarthy H, Hoodless PA, Mancarelli MM, Torbett BE, Banham AH, Reddy SP, Cullum RL, Liedtke M, Tschan MP, Vaz M, Rizzino A, Zannini M, Frietze S, Farnham PJ, Eijkelenboom A, Brown PJ, Laperrière D, Leprince D, de Cristofaro T, Prince KL, Putker M, del Peso L, Camenisch G, Wenger RH, Mikula M, Rozendaal M, Mader S, Ostrowski J, Rhodes SJ, Van Rechem C, Boulay G, Olechnowicz SW, Breslin MB, Lan MS, Nanan KK, Wegner M, Hou J, Mullen RD, Colvin SC, Noy PJ, Webb CF, Witek ME, Ferrell S, Daniel JM, Park J, Waldman SA, Peet DJ, Taggart M, Jayaraman PS, Karrich JJ, Blom B, Vesuna F, O'Geen H, Sun Y, Gronostajski RM, Woodcroft MW, Hough MR, Chen E, Europe-Finner GN, Karolczak-Bayatti M, Bailey J, Hankinson O, Raman V, LeBrun DP, Biswal S, Harvey CJ, DeBruyne JP, Hogenesch JB, Hevner RF, Héligon C, Luo XM, Blank MC, Millen KJ, Sharlin DS… See abstract for full author list ➔ Yusuf D, et al. Among authors: cheung wa. Genome Biol. 2012;13(3):R24. doi: 10.1186/gb-2012-13-3-r24. Genome Biol. 2012. PMID: 22458515 Free PMC article.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Zion TN, et al. Among authors: cheung wa. Genet Med. 2023 May;25(5):100020. doi: 10.1016/j.gim.2023.100020. Epub 2023 Jan 28. Genet Med. 2023. PMID: 36718845 Free PMC article.
51 results