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Page 1
A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms.
Lee J, Husami A, Arora K, Zhang W, Kadri F, Yarlagadda S, Moon C, Mun KS, Zhang K, Huang Y, Liyanage P, Brewington J, Clancy JP, Shaikhkhalil A, Paul G, Naren AP. Lee J, et al. Among authors: husami a. Pediatr Pulmonol. 2024 Jan;59(1):229-232. doi: 10.1002/ppul.26719. Epub 2023 Oct 11. Pediatr Pulmonol. 2024. PMID: 37818777 No abstract available.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: husami a. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.
Dolin RH, Heale BSE, Alterovitz G, Gupta R, Aronson J, Boxwala A, Gothi SR, Haines D, Hermann A, Hongsermeier T, Husami A, Jones J, Naeymi-Rad F, Rapchak B, Ravishankar C, Shalaby J, Terry M, Xie N, Zhang P, Chamala S. Dolin RH, et al. Among authors: husami a. J Am Med Inform Assoc. 2023 Feb 16;30(3):485-493. doi: 10.1093/jamia/ocac246. J Am Med Inform Assoc. 2023. PMID: 36548217 Free PMC article.
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.
Simpson BN, Mejía Sang ME, Collado Puello Y, Diaz Brockmans EJ, Díaz Soto MF, Rivera Defilló SM, Taveras Cruz KM, Santiago Pérez JO, Husami A, Day ME, Pilipenko V, Mena R, Mota C, Hostetter MK, Muglia LJ, Schlaudecker E, Gonzalez Del Rey J, Martin LJ, Prada CE. Simpson BN, et al. Among authors: husami a. J Pediatric Infect Dis Soc. 2023 Apr 18;12(3):169-172. doi: 10.1093/jpids/piac136. J Pediatric Infect Dis Soc. 2023. PMID: 36537278
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: husami a. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández G, Romero-Cortadellas L, Ferrer-Cortès X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, González-Fernández FA, Morado M, Kalfa TA, Quintana-Bustamante O, Pérez-Montero S, Tornador C, Segovia JC, Sánchez M. Hernández G, et al. Among authors: husami a. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. Haematologica. 2023. PMID: 36200420 Free PMC article. No abstract available.
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen … See abstract for full author list ➔ Rehm HL, et al. Among authors: husami a. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
33 results