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Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Bentham J, Morris DL, Graham DSC, Pinder CL, Tombleson P, Behrens TW, Martín J, Fairfax BP, Knight JC, Chen L, Replogle J, Syvänen AC, Rönnblom L, Graham RR, Wither JE, Rioux JD, Alarcón-Riquelme ME, Vyse TJ. Bentham J, et al. Nat Genet. 2015 Dec;47(12):1457-1464. doi: 10.1038/ng.3434. Epub 2015 Oct 26. Nat Genet. 2015. PMID: 26502338 Free PMC article.
Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
Morris DL, Sheng Y, Zhang Y, Wang YF, Zhu Z, Tombleson P, Chen L, Cunninghame Graham DS, Bentham J, Roberts AL, Chen R, Zuo X, Wang T, Wen L, Yang C, Liu L, Yang L, Li F, Huang Y, Yin X, Yang S, Rönnblom L, Fürnrohr BG, Voll RE, Schett G, Costedoat-Chalumeau N, Gaffney PM, Lau YL, Zhang X, Yang W, Cui Y, Vyse TJ. Morris DL, et al. Among authors: bentham j. Nat Genet. 2016 Aug;48(8):940-946. doi: 10.1038/ng.3603. Epub 2016 Jul 11. Nat Genet. 2016. PMID: 27399966 Free PMC article.
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.
Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'Lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD. Mamasoula C, et al. Among authors: bentham j. Circ Cardiovasc Genet. 2013 Aug;6(4):347-53. doi: 10.1161/CIRCGENETICS.113.000191. Epub 2013 Jul 22. Circ Cardiovasc Genet. 2013. PMID: 23876493 Free PMC article.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: bentham j. Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939634 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: bentham j. 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.
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. D'Alessandro LC, et al. Among authors: bentham j. Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21. Genet Med. 2016. PMID: 25996639 Free PMC article.
Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF; UK10K Consortium, Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: bentham j. Am J Hum Genet. 2014 Apr 3;94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007. Am J Hum Genet. 2014. PMID: 24702954 Free PMC article.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Cordell HJ, et al. Among authors: bentham j. Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708191 Free PMC article.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Cordell HJ, et al. Among authors: bentham j. Hum Mol Genet. 2013 Apr 1;22(7):1473-81. doi: 10.1093/hmg/dds552. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297363 Free PMC article.
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.
Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Granados Riveron J, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Griffin HR, et al. Among authors: bentham j. PLoS One. 2009;4(3):e4978. doi: 10.1371/journal.pone.0004978. Epub 2009 Mar 24. PLoS One. 2009. PMID: 19308252 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL. Grozeva D, et al. Among authors: bentham j. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Duct Stenting Versus Modified Blalock-Taussig Shunt in Neonates With Duct-Dependent Pulmonary Blood Flow: Associations With Clinical Outcomes in a Multicenter National Study.
Bentham JR, Zava NK, Harrison WJ, Shauq A, Kalantre A, Derrick G, Chen RH, Dhillon R, Taliotis D, Kang SL, Crossland D, Adesokan A, Hermuzi A, Kudumula V, Yong S, Noonan P, Hayes N, Stumper O, Thomson JDR. Bentham JR, et al. Circulation. 2018 Feb 6;137(6):581-588. doi: 10.1161/CIRCULATIONAHA.117.028972. Epub 2017 Oct 30. Circulation. 2018. PMID: 29084734 Free article.
A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Palomino Doza J, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. Goodship JA, et al. Among authors: bentham j. Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13. Circ Cardiovasc Genet. 2012. PMID: 22503907 Free PMC article.
Functional significance of SRJ domain mutations in CITED2.
Chen CM, Bentham J, Cosgrove C, Braganca J, Cuenda A, Bamforth SD, Schneider JE, Watkins H, Keavney B, Davies B, Bhattacharya S. Chen CM, et al. Among authors: bentham j. PLoS One. 2012;7(10):e46256. doi: 10.1371/journal.pone.0046256. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082118 Free PMC article.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium, Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: bentham j. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863274 Free PMC article. No abstract available.
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S. Szumska D, et al. Among authors: bentham j. Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408. Genes Dev. 2008. PMID: 18519639 Free PMC article.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: bentham j. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD. Page DJ, et al. Among authors: bentham jr. Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. Circ Res. 2019. PMID: 30582441 Free PMC article.
Mycotic aneurysm of the left ventricle.
Bentham J, Wilson N, Westaby S. Bentham J, et al. Pediatr Cardiol. 2010 Jul;31(5):747-8. doi: 10.1007/s00246-010-9678-9. Epub 2010 Feb 25. Pediatr Cardiol. 2010. PMID: 20182704 No abstract available.
Outcome after transcatheter occlusion of patent ductus arteriosus in infants less than 6 kg: A national study from United Kingdom and Ireland.
Kang SL, Jivanji S, Mehta C, Tometzki AJ, Derrick G, Yates R, Khambadkone S, de Giovanni J, Stumper O, Dhillon R, Bhole V, Slavik Z, Rigby M, Noonan P, Smith B, Knight B, Richens T, Wilson N, Walsh K, James A, Thomson J, Bentham J, Hayes N, Nazir S, Adwani S, Shauq A, Ramaraj R, Duke C, Taliotis D, Kudumula V, Yong SF, Morgan G, Rosenthal E, Krasemann T, Qureshi S, Crossland D, Hermuzi T, Martin RP. Kang SL, et al. Among authors: bentham j. Catheter Cardiovasc Interv. 2017 Dec 1;90(7):1135-1144. doi: 10.1002/ccd.27212. Epub 2017 Aug 11. Catheter Cardiovasc Interv. 2017. PMID: 28799706
Early outcomes of percutaneous pulmonary valve implantation using the Edwards SAPIEN 3 transcatheter heart valve system.
Hascoet S, Dalla Pozza R, Bentham J, Carere RG, Kanaan M, Ewert P, Biernacka EK, Kretschmar O, Deutsch C, Lecerf F, Lehner A, Kantzis M, Kurucova J, Thoenes M, Bramlage P, Haas NA. Hascoet S, et al. Among authors: bentham j. EuroIntervention. 2019 Jan 20;14(13):1378-1385. doi: 10.4244/EIJ-D-18-01035. EuroIntervention. 2019. PMID: 30418156 Free article.
Confusing coarctation.
Bentham J, Todd P, Evans P. Bentham J, et al. Arch Dis Child. 2004 Jul;89(7):643. doi: 10.1136/adc.2003.045914. Arch Dis Child. 2004. PMID: 15210496 Free PMC article. No abstract available.
Blood pressure in the neonate.
Weindling AM, Bentham J. Weindling AM, et al. Among authors: bentham j. Acta Paediatr. 2005 Feb;94(2):138-40. doi: 10.1111/j.1651-2227.2005.tb01879.x. Acta Paediatr. 2005. PMID: 15981743 Review.
Laboratory-based and office-based risk scores and charts to predict 10-year risk of cardiovascular disease in 182 countries: a pooled analysis of prospective cohorts and health surveys.
Ueda P, Woodward M, Lu Y, Hajifathalian K, Al-Wotayan R, Aguilar-Salinas CA, Ahmadvand A, Azizi F, Bentham J, Cifkova R, Di Cesare M, Eriksen L, Farzadfar F, Ferguson TS, Ikeda N, Khalili D, Khang YH, Lanska V, León-Muñoz L, Magliano DJ, Margozzini P, Msyamboza KP, Mutungi G, Oh K, Oum S, Rodríguez-Artalejo F, Rojas-Martinez R, Valdivia G, Wilks R, Shaw JE, Stevens GA, Tolstrup JS, Zhou B, Salomon JA, Ezzati M, Danaei G. Ueda P, et al. Among authors: bentham j. Lancet Diabetes Endocrinol. 2017 Mar;5(3):196-213. doi: 10.1016/S2213-8587(17)30015-3. Epub 2017 Jan 24. Lancet Diabetes Endocrinol. 2017. PMID: 28126460 Free PMC article.
Expression of IGFBP-1 in normal and cirrhotic human livers.
Ross RJ, Rodriguez-Arnao J, Donaghy A, Bentham J, Clark A, Holly J, Williams R, Gimson A. Ross RJ, et al. Among authors: bentham j. J Endocrinol. 1994 May;141(2):377-82. doi: 10.1677/joe.0.1410377. J Endocrinol. 1994. PMID: 7519235
Post-infarction ventricular septal defect: percutaneous or surgical management in the UK national registry.
Giblett JP, Matetic A, Jenkins D, Ng CY, Venuraju S, MacCarthy T, Vibhishanan J, O'Neill JP, Kirmani BH, Pullan DM, Stables RH, Andrews J, Buttinger N, Kim WC, Kanyal R, Butler MA, Butler R, George S, Khurana A, Crossland DS, Marczak J, Smith WHT, Thomson JDR, Bentham JR, Clapp BR, Buch M, Hayes N, Byrne J, MacCarthy P, Aggarwal SK, Shapiro LM, Turner MS, de Giovanni J, Northridge DB, Hildick-Smith D, Mamas MA, Calvert PA. Giblett JP, et al. Among authors: bentham jr. Eur Heart J. 2022 Sep 17:ehac511. doi: 10.1093/eurheartj/ehac511. Online ahead of print. Eur Heart J. 2022. PMID: 36124729
Hybrid Palliation for Hypoplastic Left Heart Syndrome: Association With Contemporary Outcomes.
Ho AB, Hribernik I, Shillaker D, Thomson J, Salam A, Dedieu N, Giardini A, Derrick G, O'Callaghan B, Gibb J, Gonzalez-Barlatay F, Taliotis D, Johns M, Hayes N, Bentham JR. Ho AB, et al. Among authors: bentham jr. Circulation. 2021 Oct 5;144(14):1189-1191. doi: 10.1161/CIRCULATIONAHA.121.055183. Epub 2021 Oct 4. Circulation. 2021. PMID: 34606304 No abstract available.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Hodgson J, Ruiz-Llorente L, McDonald J, Quarrell O, Ugonna K, Bentham J, Mason R, Martin J, Moore D, Bergstrom K, Bayrak-Toydemir P, Wooderchak-Donahue W, Morrell NW, Condliffe R, Bernabeu C, Upton PD. Hodgson J, et al. Among authors: bentham j. Mol Genet Genomic Med. 2021 Dec;9(12):e1685. doi: 10.1002/mgg3.1685. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33834622 Free PMC article.
Geographical and socioeconomic inequalities in female breast cancer incidence and mortality in Iran: A Bayesian spatial analysis of registry data.
Rahimzadeh S, Burczynska B, Ahmadvand A, Sheidaei A, Khademioureh S, Pazhuheian F, Saeedi Moghaddam S, Bentham J, Farzadfar F, Di Cesare M. Rahimzadeh S, et al. Among authors: bentham j. PLoS One. 2021 Mar 17;16(3):e0248723. doi: 10.1371/journal.pone.0248723. eCollection 2021. PLoS One. 2021. PMID: 33730079 Free PMC article.
Corrigendum to 'Age over 35 years is associated with increased mortality after pulmonary valve replacement in repaired tetralogy of Fallot: results from the UK National Congenital Heart Disease Audit database' [Eur J Cardiothorac Surg 2020;58:825-31].
Dorobantu DM, Sharabiani MTA, Taliotis D, Parry AJ, Tulloh RMR, Bentham JR, Caputo M, van Doorn C, Stoica SC. Dorobantu DM, et al. Among authors: bentham jr. Eur J Cardiothorac Surg. 2020 Oct 1;58(4):873. doi: 10.1093/ejcts/ezaa190. Eur J Cardiothorac Surg. 2020. PMID: 32688385 Free PMC article. No abstract available.
Age over 35 years is associated with increased mortality after pulmonary valve replacement in repaired tetralogy of Fallot: results from the UK National Congenital Heart Disease Audit database.
Dorobantu DM, Sharabiani MTA, Taliotis D, Parry AJ, Tulloh RMR, Bentham JR, Caputo M, van Doorn C, Stoica SC. Dorobantu DM, et al. Among authors: bentham jr. Eur J Cardiothorac Surg. 2020 Oct 1;58(4):825-831. doi: 10.1093/ejcts/ezaa069. Eur J Cardiothorac Surg. 2020. PMID: 32187367 Free PMC article.
Multi-dimensional characterisation of global food supply from 1961-2013.
Bentham J, Singh GM, Danaei G, Green R, Lin JK, Stevens GA, Farzadfar F, Bennett JE, Cesare MD, Dangour AD, Ezzati M. Bentham J, et al. Nat Food. 2020 Jan;1(1):70-75. doi: 10.1038/s43016-019-0012-2. Epub 2020 Jan 13. Nat Food. 2020. PMID: 32002520 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.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Hendricks AE, et al. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
A century of trends in adult human height.
NCD Risk Factor Collaboration (NCD-RisC). NCD Risk Factor Collaboration (NCD-RisC). Elife. 2016 Jul 26;5:e13410. doi: 10.7554/eLife.13410. Elife. 2016. PMID: 27458798 Free PMC article.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
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