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Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: edmondson ac. Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1. Genet Med. 2019. PMID: 30097611 Free article.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Alharbi H, et al. Among authors: edmondson ac. J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29. J Inherit Metab Dis. 2023. PMID: 36651831 Free PMC article.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Radenkovic S, et al. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30. Cell Rep Med. 2023. PMID: 37257447 Free PMC article.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: edmondson ac. Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907798 Free PMC article.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Witters P, et al. Genet Med. 2020 Jun;22(6):1102-1107. doi: 10.1038/s41436-020-0767-8. Epub 2020 Feb 27. Genet Med. 2020. PMID: 32103184 Free PMC article.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y. Tremblay-Laganière C, et al. Among authors: edmondson ac. Genet Med. 2021 Oct;23(10):1873-1881. doi: 10.1038/s41436-021-01215-9. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113002 Free PMC article.
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA. Long A, et al. Among authors: edmondson ac. Am J Med Genet A. 2016 Dec;170(12):3333-3337. doi: 10.1002/ajmg.a.37956. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27568880
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. Edmondson AC, et al. Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777481
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study; Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM. Polla DL, et al. Among authors: edmondson ac. Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17. Am J Hum Genet. 2021. PMID: 34143952 Free PMC article.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Ritter AL, et al. Among authors: edmondson ac. Genet Med. 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14. Genet Med. 2022. PMID: 35300924 Free PMC article.
89 results