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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.
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.
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.
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.
The Relationship between Lifestyle, Mental Health, and Loneliness in the Elderly during the COVID-19 Pandemic.
Schütz DM, Rossi T, de Albuquerque NS, Costa DB, Machado JS, Fritsch L, Gosmann N, Mastrascusa RC, Sessegolo N, Bottega VR, Wearick-Silva LE, Moret-Tatay C, Della Gatta F, Irigaray TQ. Schütz DM, et al. Among authors: machado js. Healthcare (Basel). 2024 Apr 23;12(9):876. doi: 10.3390/healthcare12090876. Healthcare (Basel). 2024. PMID: 38727433 Free PMC article.
Corrigendum: Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal - U-PIK Project.
Peixoto A, Cirnes L, Carvalho AL, Andrade MJ, Maria José Brito, Borralho P, Coimbra N, Borralho PM, Carneiro AS, Castro L, Correia L, Dionísio MR, Faria C, Figueiredo P, Gomes A, Paixão J, Pinheiro M, Prazeres H, Ribeiro J, Salgueiro N, Schmitt FC, Silva F, Silvestre AR, Sousa AC, Almeida-Tavares J, Teixeira MR, André S, Machado JC. Peixoto A, et al. Among authors: machado jc. Front Mol Biosci. 2024 Apr 24;11:1298522. doi: 10.3389/fmolb.2024.1298522. eCollection 2024. Front Mol Biosci. 2024. PMID: 38721275 Free PMC article.
Salmonella Saintpaul outbreak associated with cantaloupe consumption, United Kingdom and Portugal, September 2023 to November 2023.
McGeoch LJ, Hoban A, Sawyer C, Rabie H; Incident Team; Painset A, Browning L, Brown D, McCarthy C, Nelson A, Firme A, Pista Â, Moreno J, Martins JV, Silveira L, Machado J, Vasconcelos P, Olufon O, Inzoungou-Massanga C, Douglas A, McCormick J, Larkin L, Balasegaram S. McGeoch LJ, et al. Among authors: machado j. Epidemiol Infect. 2024 May 6:1-15. doi: 10.1017/S0950268824000670. Online ahead of print. Epidemiol Infect. 2024. PMID: 38705587 No abstract available.
1,324 results