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Identification of new Wilms tumour predisposition genes: an exome sequencing study.
Mahamdallie S, Yost S, Poyastro-Pearson E, Holt E, Zachariou A, Seal S, Elliott A, Clarke M, Warren-Perry M, Hanks S, Anderson J, Bomken S, Cole T, Farah R, Furtwaengler R, Glaser A, Grundy R, Hayden J, Lowis S, Millot F, Nicholson J, Ronghe M, Skeen J, Williams D, Yeomanson D, Ruark E, Rahman N. Mahamdallie S, et al. Among authors: williams d. Lancet Child Adolesc Health. 2019 May;3(5):322-331. doi: 10.1016/S2352-4642(19)30018-5. Epub 2019 Mar 16. Lancet Child Adolesc Health. 2019. PMID: 30885698 Free PMC article.
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration; Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N. Scott RH, et al. Among authors: williams d. Nat Genet. 2008 Nov;40(11):1329-34. doi: 10.1038/ng.243. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836444
Stratification of Wilms tumor by genetic and epigenetic analysis.
Scott RH, Murray A, Baskcomb L, Turnbull C, Loveday C, Al-Saadi R, Williams R, Breatnach F, Gerrard M, Hale J, Kohler J, Lapunzina P, Levitt GA, Picton S, Pizer B, Ronghe MD, Traunecker H, Williams D, Kelsey A, Vujanic GM, Sebire NJ, Grundy P, Stiller CA, Pritchard-Jones K, Douglas J, Rahman N. Scott RH, et al. Among authors: williams d, williams r. Oncotarget. 2012 Mar;3(3):327-35. doi: 10.18632/oncotarget.468. Oncotarget. 2012. PMID: 22470196 Free PMC article.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: williams d. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
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.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Among authors: williams d. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD. Quinlan-Jones E, et al. Among authors: williams d. Genet Med. 2019 May;21(5):1065-1073. doi: 10.1038/s41436-018-0298-8. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293990 Free PMC article.
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