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Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Shenje LT, et al. Among authors: marosy ba. Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416. Nat Commun. 2014. PMID: 24595103 Free PMC article.
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. Among authors: marosy ba. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872
Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.
Darst BF, Saunders E, Dadaev T, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Wang Y, Patel AV, Albanes D, Weinstein SJ, Gnanapragasam V, Huff C, Couch FJ, Wolk A, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz MM, Schmidt JA, Travis RC, Key TJ, Stopsack KH, Mucci LA, Catalona WJ, Marosy B, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Conti DV, Kote-Jarai Z, Haiman CA. Darst BF, et al. JAMA Oncol. 2023 Nov 1;9(11):1514-1524. doi: 10.1001/jamaoncol.2023.3482. JAMA Oncol. 2023. PMID: 37733366 Free PMC article.
Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma.
Wang Z, Wei Y, Zhang R, Su L, Gogarten SM, Liu G, Brennan P, Field JK, McKay JD, Lissowska J, Swiatkowska B, Janout V, Bolca C, Kontic M, Scelo G, Zaridze D, Laurie CC, Doheny KF, Pugh EK, Marosy BA, Hetrick KN, Xiao X, Pikielny C, Hung RJ, Amos CI, Lin X, Christiani DC. Wang Z, et al. Among authors: marosy ba. EBioMedicine. 2018 Jun;32:93-101. doi: 10.1016/j.ebiom.2018.05.024. Epub 2018 May 31. EBioMedicine. 2018. PMID: 29859855 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
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