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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: gonzaga jauregui c. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: gonzaga jauregui c. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: gonzaga jauregui c. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. PMID: 38496498 Free PMC article. Preprint.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Among authors: gonzaga jauregui c. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E, Shapira G, Shoval S, Israel-Elgali I, Alkelai A, Shuldiner AR, Gonzaga-Jauregui C, Zidan J, Maray T, Shomron N, Friedman E. Avnat E, et al. Among authors: gonzaga jauregui c. Genes (Basel). 2023 Apr 18;14(4):937. doi: 10.3390/genes14040937. Genes (Basel). 2023. PMID: 37107695 Free PMC article.
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS, Gaudet D, Ballantyne CM, Baum SJ, Bergeron J, Kershaw EE, Moriarty PM, Rubba P, Whitcomb DC, Banerjee P, Gewitz A, Gonzaga-Jauregui C, McGinniss J, Ponda MP, Pordy R, Zhao J, Rader DJ. Rosenson RS, et al. Among authors: gonzaga jauregui c. Nat Med. 2023 Mar;29(3):729-737. doi: 10.1038/s41591-023-02222-w. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879129 Free PMC article. Clinical Trial.
Addressing the challenges of polygenic scores in human genetic research.
Novembre J, Stein C, Asgari S, Gonzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, Tishkoff S. Novembre J, et al. Among authors: gonzaga jauregui c. Am J Hum Genet. 2022 Dec 1;109(12):2095-2100. doi: 10.1016/j.ajhg.2022.10.012. Am J Hum Genet. 2022. PMID: 36459976 Free PMC article. Review.
109 results