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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL. Blakes AJM, et al. Among authors: douglas agl. Eur J Hum Genet. 2021 Apr;29(4):593-603. doi: 10.1038/s41431-020-00766-w. Epub 2020 Nov 22. Eur J Hum Genet. 2021. PMID: 33223528 Free PMC article.
RNA splicing analysis in genomic medicine.
Wai H, Douglas AGL, Baralle D. Wai H, et al. Among authors: douglas agl. Int J Biochem Cell Biol. 2019 Mar;108:61-71. doi: 10.1016/j.biocel.2018.12.009. Epub 2018 Dec 27. Int J Biochem Cell Biol. 2019. PMID: 30594648 Review.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Among authors: douglas agl. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Among authors: douglas agl. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: douglas agl. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D. Macken WL, et al. Among authors: douglas agl. Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w. Genome Med. 2021. PMID: 33632302 Free PMC article.
33 results