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Page 1
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Eno C, et al. Among authors: machado j. Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214068 Free article.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Hatton JN, et al. Among authors: machado j. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. Butcher DT, et al. Among authors: machado j. Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004. Am J Hum Genet. 2017. PMID: 28475860 Free PMC article.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. Choufani S, et al. Among authors: machado j. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. Am J Hum Genet. 2020. PMID: 32243864 Free PMC article.
Clinical characterisation and outcomes of human clade IIb mpox virus disease - a European multicentre observational cohort study (MOSAIC).
Pesonel E, Laouénan C, Guiraud L, Bourner J, Hoffmann I, Molino D, Tardivon C, Bachelet D, Mentré F, Amstutz A, Merson L, Rojek A, Cervantes Gonzalez M, Antinori A, Castagna A, Nozza S, Pourcher V, Libois A, Dunning J, Tacconelli E, Hites M, De La Calle Prieto F, Horby P, Yazdanpanah Y, Calmy A, Lescure FX, Olliaro P; MOSAIC Study Group. Pesonel E, et al. Clin Infect Dis. 2025 Jan 3:ciae657. doi: 10.1093/cid/ciae657. Online ahead of print. Clin Infect Dis. 2025. PMID: 39749987
Ultrablack color in velvet ant cuticle.
Lopez VM, Krings W, Machado JR, Gorb S, Guillermo-Ferreira R. Lopez VM, et al. Among authors: machado jr. Beilstein J Nanotechnol. 2024 Dec 2;15:1554-1565. doi: 10.3762/bjnano.15.122. eCollection 2024. Beilstein J Nanotechnol. 2024. PMID: 39669265 Free PMC article.
Achieving the Optimal AgO Concentrations to Modulate the Anti-Trypanosoma cruzi Activity of Ag-ZnO/AgO Nanocomposites: In Vivo Investigations.
do Carmo Neto JR, Braga YLL, Franco PIR, de Oliveira JF, Trevisan RO, Mendes KM, de Oliveira MAP, Celes MRN, Silva ACA, Machado JR, da Silva MV. do Carmo Neto JR, et al. Among authors: machado jr. Pharmaceutics. 2024 Nov 4;16(11):1415. doi: 10.3390/pharmaceutics16111415. Pharmaceutics. 2024. PMID: 39598539 Free PMC article.
1,364 results