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Items: 1 to 50 of 91

1.

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.

Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ.

Nat Commun. 2017 May 25;8:15481. doi: 10.1038/ncomms15481.

2.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL.

Hum Mol Genet. 2016 Jun 1;25(11):2331-2341. Epub 2016 Mar 9.

3.

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Howey R, Mamasoula C, Töpf A, Nudel R, Goodship JA, Keavney BD, Cordell HJ.

Am J Hum Genet. 2015 Sep 3;97(3):419-34. doi: 10.1016/j.ajhg.2015.07.016. Epub 2015 Aug 27.

4.

Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

Lin Y, Guo X, Zhao B, Liu J, Da M, Wen Y, Hu Y, Ni B, Zhang K, Yang S, Xu J, Dai J, Wang X, Xia Y, Ma H, Jin G, Yu S, Liu J, Keavney BD, Goodship JA, Cordell HJ, Wang X, Shen H, Sha J, Zhou Z, Chen Y, Mo X, Luo L, Hu Z.

Nat Commun. 2015 Aug 18;6:8082. doi: 10.1038/ncomms9082.

PMID:
26283027
5.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F.

Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30.

6.

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ.

Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23.

7.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, Goodship JA, Otto EA.

BMC Med Genet. 2015 Jun 4;16:35. doi: 10.1186/s12881-015-0181-2.

8.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL.

Hum Mol Genet. 2015 Jul 15;24(14):4126-37. doi: 10.1093/hmg/ddv152. Epub 2015 Apr 23.

9.

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD.

J Med Genet. 2014 Nov;51(11):756-64. doi: 10.1136/jmedgenet-2014-102498. Epub 2014 Sep 26.

PMID:
25261570
10.

Urinary tract effects of HPSE2 mutations.

Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group, Saggar A, Kinali M; 4C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS.

J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21.

11.

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Töpf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, Rahman TJ, Eloranta JJ, Jüngst C, Stuart AG, O'Sullivan J, Keavney BD, Goodship JA.

PLoS One. 2014 Aug 5;9(8):e95453. doi: 10.1371/journal.pone.0095453. eCollection 2014.

12.

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.

PLoS One. 2013 Dec 4;8(12):e81625. doi: 10.1371/journal.pone.0081625. eCollection 2013.

13.

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Adam J, Browning AC, Vaideanu D, Heidet L, Goodship JA, Sayer JA.

Clin Kidney J. 2013 Aug;6(4):410-3. doi: 10.1093/ckj/sft058. Epub 2013 Jun 23.

14.

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.

Circ Cardiovasc Genet. 2013 Aug;6(4):347-53. doi: 10.1161/CIRCGENETICS.113.000191. Epub 2013 Jul 22.

15.

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.

Wilson V, Darlay R, Wong W, Wood KM, McFarlane J, Schejbel L, Schmidt IM, Harris CL, Tellez J, Hunze EM, Marchbank K, Goodship JA, Goodship TH.

Am J Kidney Dis. 2013 Nov;62(5):978-83. doi: 10.1053/j.ajkd.2013.05.020. Epub 2013 Jul 16.

PMID:
23870792
16.

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.

Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26.

17.

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

Holmes LV, Strain L, Staniforth SJ, Moore I, Marchbank K, Kavanagh D, Goodship JA, Cordell HJ, Goodship TH.

PLoS One. 2013 Apr 16;8(4):e60352. doi: 10.1371/journal.pone.0060352. Print 2013.

18.

Evc regulates a symmetrical response to Shh signaling in molar development.

Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H.

J Dent Res. 2013 Mar;92(3):222-8. doi: 10.1177/0022034512471826. Epub 2013 Jan 11.

PMID:
23315474
19.

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.

Hum Mol Genet. 2013 Apr 1;22(7):1473-81. doi: 10.1093/hmg/dds552. Epub 2013 Jan 7.

20.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO.

Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.

21.

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.

Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL.

Hum Mol Genet. 2013 Jan 1;22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1.

PMID:
23026747
22.

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.

Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

23.

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.

Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13.

24.

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

Tan HL, Glen E, Töpf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD.

Hum Mutat. 2012 Apr;33(4):720-7. doi: 10.1002/humu.22030. Epub 2012 Feb 14.

25.

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.

Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.

26.

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

Pacheco M, Valencia M, Caparrós-Martín JA, Mulero F, Goodship JA, Ruiz-Perez VL.

Bone. 2012 Jan;50(1):28-41. doi: 10.1016/j.bone.2011.08.025. Epub 2011 Aug 31.

PMID:
21911092
27.

Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank.

Lambert HJ, Stewart A, Gullett AM, Cordell HJ, Malcolm S, Feather SA, Goodship JA, Goodship TH, Woolf AS; UK VUR Study Group.

Clin J Am Soc Nephrol. 2011 Apr;6(4):760-6. doi: 10.2215/CJN.04580510. Epub 2011 Mar 24.

28.

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA.

BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14.

29.

Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome.

Siddle KJ, Goodship JA, Keavney B, Santibanez-Koref MF.

Bioinformatics. 2011 Apr 1;27(7):895-8. doi: 10.1093/bioinformatics/btr067. Epub 2011 Feb 11.

PMID:
21317137
30.

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA.

Heart. 2010 Oct;96(20):1651-5. doi: 10.1136/hrt.2010.200121.

31.

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

van Engelen K, Topf A, Keavney BD, Goodship JA, van der Velde ET, Baars MJ, Snijder S, Moorman AF, Postma AV, Mulder BJ.

Heart. 2010 Apr;96(8):621-4. doi: 10.1136/hrt.2009.182642.

PMID:
20357389
32.

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.

Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship TH, Woolf AS, Kenda RB, Goodship JA; UK VUR Study Group.

J Am Soc Nephrol. 2010 Jan;21(1):113-23. doi: 10.1681/ASN.2009060624. Epub 2009 Dec 3.

33.

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL, Goodship JA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Review.

PMID:
19876929
34.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.

PMID:
19810119
35.

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.

PLoS One. 2009;4(3):e4978. doi: 10.1371/journal.pone.0004978. Epub 2009 Mar 24.

36.

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK.

Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11.

PMID:
18622393
37.

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D.

Clin Exp Immunol. 2008 Jul;153(1):75-80. doi: 10.1111/j.1365-2249.2008.03681.x. Epub 2008 May 26.

38.

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778.

PMID:
18454448
39.

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.

Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH.

J Immunol. 2008 May 1;180(9):6385-91.

40.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC.

Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Erratum in: Am J Hum Genet. 2008 Apr;82(4):1019.

41.

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA.

Development. 2007 Aug;134(16):2903-12.

42.

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

Kavanagh D, Richards A, Noris M, Hauhart R, Liszewski MK, Karpman D, Goodship JA, Fremeaux-Bacchi V, Remuzzi G, Goodship TH, Atkinson JP.

Mol Immunol. 2008 Jan;45(1):95-105. Epub 2007 Jun 26.

PMID:
17597211
43.

The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation.

Kavanagh D, Burgess R, Spitzer D, Richards A, Diaz-Torres ML, Goodship JA, Hourcade DE, Atkinson JP, Goodship TH.

Mol Immunol. 2007 May;44(12):3162-7. Epub 2007 Mar 21.

PMID:
17368771
44.

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C.

PLoS Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.

45.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.

PLoS Med. 2006 Oct;3(10):e431.

46.

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.

Hum Genet. 2007 Jan;120(5):663-70. Epub 2006 Sep 21.

PMID:
17024374
47.

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR.

Am J Med Genet A. 2006 Jun 1;140(11):1131-5.

PMID:
16691627
48.

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.

Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH.

Hum Mutat. 2006 Mar;27(3):292-3.

PMID:
16470555
49.

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.

Pan-Hammarström Q, Lähdesmäki A, Zhao Y, Du L, Zhao Z, Wen S, Ruiz-Perez VL, Dunn-Walters DK, Goodship JA, Hammarström L.

J Exp Med. 2006 Jan 23;203(1):99-110. Epub 2006 Jan 3. Erratum in: J Exp Med. 2006 Jan 23;203(1):251.

50.

The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors.

Kemp EJ, Strain L, Diaz-Torres ML, Goodship JA, Goodship TH.

J Thromb Haemost. 2005 Sep;3(9):2128-30. No abstract available.

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