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2,226 results

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Page 1
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: gold j. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Hepatic Manifestations of Urea Cycle Disorders.
Strong A, Gold J, Gold NB, Yudkoff M. Strong A, et al. Among authors: gold j, gold nb. Clin Liver Dis (Hoboken). 2021 Sep 1;18(4):198-203. doi: 10.1002/cld.1115. eCollection 2021 Oct. Clin Liver Dis (Hoboken). 2021. PMID: 34745578 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: gold j. 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.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. Among authors: gold nb. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Gold NB, et al. Among authors: gold ji. JAMA Netw Open. 2023 May 1;6(5):e2312231. doi: 10.1001/jamanetworkopen.2023.12231. JAMA Netw Open. 2023. PMID: 37155167 Free PMC article.
Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.
Boerio ML, Engelhardt NM, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM. Boerio ML, et al. Circ Genom Precis Med. 2022 Dec;15(6):e003707. doi: 10.1161/CIRCGEN.122.003707. Epub 2022 Nov 9. Circ Genom Precis Med. 2022. PMID: 36350761 Free PMC article. No abstract available.
2,226 results