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Page 1
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: lucattini a. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Comprehensive characterization of single-cell full-length isoforms in human and mouse with long-read sequencing.
Tian L, Jabbari JS, Thijssen R, Gouil Q, Amarasinghe SL, Voogd O, Kariyawasam H, Du MRM, Schuster J, Wang C, Su S, Dong X, Law CW, Lucattini A, Prawer YDJ, Collar-Fernández C, Chung JD, Naim T, Chan A, Ly CH, Lynch GS, Ryall JG, Anttila CJA, Peng H, Anderson MA, Flensburg C, Majewski I, Roberts AW, Huang DCS, Clark MB, Ritchie ME. Tian L, et al. Among authors: lucattini a. Genome Biol. 2021 Nov 11;22(1):310. doi: 10.1186/s13059-021-02525-6. Genome Biol. 2021. PMID: 34763716 Free PMC article.
Genetic susceptibility to hydroxychloroquine retinal toxicity.
Mack HG, Kowalski T, Lucattini A, Symons RA, Wicks I, Hall AJ. Mack HG, et al. Among authors: lucattini a. Ophthalmic Genet. 2020 Apr;41(2):159-170. doi: 10.1080/13816810.2020.1747093. Epub 2020 Apr 13. Ophthalmic Genet. 2020. PMID: 32281450
Using long-read sequencing to detect imprinted DNA methylation.
Gigante S, Gouil Q, Lucattini A, Keniry A, Beck T, Tinning M, Gordon L, Woodruff C, Speed TP, Blewitt ME, Ritchie ME. Gigante S, et al. Among authors: lucattini a. Nucleic Acids Res. 2019 May 7;47(8):e46. doi: 10.1093/nar/gkz107. Nucleic Acids Res. 2019. PMID: 30793194 Free PMC article.