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Year Number of Results
2002 1
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2013 1
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2015 2
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2018 1
2021 5
2023 1
2024 1

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Page 1
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T. Forwood C, et al. Among authors: carey l. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31. Am J Med Genet C Semin Med Genet. 2023. PMID: 37654076 Free PMC article.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: carey l. Genet Med. 2024 Jan 19;26(5):101076. doi: 10.1016/j.gim.2024.101076. Online ahead of print. Genet Med. 2024. PMID: 38258669
Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform.
Benthani F, Tran PN, Currey N, Ng I, Giry-Laterriere M, Carey L, Kohonen-Corish MR, Pangon L. Benthani F, et al. Among authors: carey l. Int J Mol Sci. 2015 May 19;16(5):11522-30. doi: 10.3390/ijms160511522. Int J Mol Sci. 2015. PMID: 25997006 Free PMC article.
The Effects of Primary Unconjugated Bile Acids on Nanoencapsulated Pharmaceutical Formulation of Hydrophilic Drugs: Pharmacological Implications.
Mooranian A, Foster T, Ionescu CM, Carey L, Walker D, Jones M, Wagle SR, Kovacevic B, Chester J, Johnstone E, Kuthubutheen J, Brown D, Atlas MD, Mikov M, Al-Salami H. Mooranian A, et al. Among authors: carey l. Drug Des Devel Ther. 2021 Oct 23;15:4423-4434. doi: 10.2147/DDDT.S328526. eCollection 2021. Drug Des Devel Ther. 2021. PMID: 34720580 Free PMC article.
Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.
Counsell JR, Karda R, Diaz JA, Carey L, Wiktorowicz T, Buckley SMK, Ameri S, Ng J, Baruteau J, Almeida F, de Silva R, Simone R, Lugarà E, Lignani G, Lindemann D, Rethwilm A, Rahim AA, Waddington SN, Howe SJ. Counsell JR, et al. Among authors: carey l. Mol Ther Nucleic Acids. 2018 Sep 7;12:626-634. doi: 10.1016/j.omtn.2018.07.006. Epub 2018 Aug 3. Mol Ther Nucleic Acids. 2018. PMID: 30081233 Free PMC article.
15 results