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The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.
Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L. Korf B, et al. Among authors: macrae ca. Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900621 Free PMC article.
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ. Higgins EM, et al. Among authors: macrae ca. JCI Insight. 2017 Mar 9;2(5):e91225. doi: 10.1172/jci.insight.91225. JCI Insight. 2017. PMID: 28289718 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing.
Hylind RJ, Chandler SF, Beausejour Ladouceur V, Roberts AE, Bezzerides V, Christensen KD, Coggins M, Lakdawala NK, MacRae CA, Abrams DJ. Hylind RJ, et al. Among authors: macrae ca. Circ Genom Precis Med. 2019 Mar;12(3):e002463. doi: 10.1161/CIRCGEN.119.002463. Circ Genom Precis Med. 2019. PMID: 30919684 No abstract available.
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.
DeWitt ES, Chandler SF, Hylind RJ, Beausejour Ladouceur V, Blume ED, VanderPluym C, Powell AJ, Fynn-Thompson F, Roberts AE, Sanders SP, Bezzerides V, Lakdawala NK, MacRae CA, Abrams DJ. DeWitt ES, et al. Among authors: macrae ca. J Am Coll Cardiol. 2019 Jul 23;74(3):346-358. doi: 10.1016/j.jacc.2019.05.022. J Am Coll Cardiol. 2019. PMID: 31319917 Free PMC article.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Zebrafish genetic models for arrhythmia.
Milan DJ, Macrae CA. Milan DJ, et al. Among authors: macrae ca. Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):301-8. doi: 10.1016/j.pbiomolbio.2009.01.011. Epub 2009 Jan 31. Prog Biophys Mol Biol. 2008. PMID: 19351520 Free PMC article. Review.
360 results