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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
Middleton A, Milne R, Almarri MA, Anwer S, Atutornu J, Baranova EE, Bevan P, Cerezo M, Cong Y, Critchley C, Fernow J, Goodhand P, Hasan Q, Hibino A, Houeland G, Howard HC, Hussain SZ, Malmgren CI, Izhevskaya VL, Jędrzejak A, Jinhong C, Kimura M, Kleiderman E, Leach B, Liu K, Mascalzoni D, Mendes Á, Minari J, Wang N, Nicol D, Niemiec E, Patch C, Pollard J, Prainsack B, Rivière M, Robarts L, Roberts J, Romano V, Sheerah HA, Smith J, Soulier A, Steed C, Stefànsdóttir V, Tandre C, Thorogood A, Voigt TH, West AV, Yoshizawa G, Morley KI. Middleton A, et al. Among authors: roberts j. Am J Hum Genet. 2020 Oct 1;107(4):743-752. doi: 10.1016/j.ajhg.2020.08.023. Epub 2020 Sep 17. Am J Hum Genet. 2020. PMID: 32946764 Free PMC article.
Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries.
Milne R, Morley KI, Almarri MA, Anwer S, Atutornu J, Baranova EE, Bevan P, Cerezo M, Cong Y, Costa A, Critchley C, Fernow J, Goodhand P, Hasan Q, Hibino A, Houeland G, Howard HC, Hussain SZ, Malmgren CI, Izhevskaya VL, Jędrzejak A, Jinhong C, Kimura M, Kleiderman E, Leach B, Liu K, Mascalzoni D, Mendes Á, Minari J, Nicol D, Niemiec E, Patch C, Pollard J, Prainsack B, Rivière M, Robarts L, Roberts J, Romano V, Sheerah HA, Smith J, Soulier A, Steed C, Stefànsdóttir V, Tandre C, Thorogood A, Voigt TH, Wang N, West AV, Yoshizawa G, Middleton A. Milne R, et al. Among authors: roberts j. Genome Med. 2021 May 25;13(1):92. doi: 10.1186/s13073-021-00903-0. Genome Med. 2021. PMID: 34034801 Free PMC article.
Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.
Milne R, Morley KI, Almarri MA, Atutornu J, Baranova EE, Bevan P, Cerezo M, Cong Y, Costa A, Feijao C, de Freitas C, Fernow J, Goodhand P, Hasan Q, Hibino A, Houeland G, Howard HC, Hussain Sheikh Z, Malmgren CI, Izhevskaya VL, Jędrzejak A, Jinhong C, Kimura M, Kleiderman E, Liu K, Mascalzoni D, Mendes Á, Minari J, Nicol D, Niemiec E, Patch C, Prainsack B, Rivière M, Robarts L, Roberts J, Romano V, Sheerah HA, Smith J, Soulier A, Steed C, Stefànsdóttir V, Tandre C, Thorogood A, Voigt TH, Wang N, Yoshizawa G, Middleton A. Milne R, et al. Among authors: roberts j. Genet Med. 2022 May;24(5):1120-1129. doi: 10.1016/j.gim.2022.01.002. Epub 2022 Feb 3. Genet Med. 2022. PMID: 35125311 Free article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
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