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Items: 1 to 50 of 58

1.

Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum.

Lovgren ML, Zhou Y, Hrčková G, Dallos T, Colmenero I, Twigg SRF, Moss C.

Br J Dermatol. 2020 Jan;182(1):212-217. doi: 10.1111/bjd.18150. Epub 2019 May 23.

PMID:
31120550
2.

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC, Vogel WK, Mlcochova H, Millard CJ, Esfandiari E, Selman WH, Calpena E, Koelling N, Carpenter EL, Swagemakers SMA, van der Spek PJ, Filtz TM, Schwabe JWR, Iwaniec UT, Mathijssen IMJ, Leid M, Twigg SRF.

Hum Mol Genet. 2019 Apr 3. pii: ddz072. doi: 10.1093/hmg/ddz072. [Epub ahead of print]

3.

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Romanelli Tavares VL, Kague E, Musso CM, Alegria TGP, Freitas RS, Bertola DR, Twigg SRF, Passos-Bueno MR.

Mol Syndromol. 2019 Feb;10(1-2):40-47. doi: 10.1159/000490635. Epub 2018 Jul 3.

4.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

5.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC.

Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13.

6.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.

Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.

7.

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Zhou Y, Koelling N, Fenwick AL, McGowan SJ, Calpena E, Wall SA, Smithson SF, Wilkie AOM, Twigg SRF.

Hum Mutat. 2018 Oct;39(10):1360-1365. doi: 10.1002/humu.23598. Epub 2018 Aug 7.

8.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

9.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.

J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

10.

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Davies B, Brown LA, Cais O, Watson J, Clayton AJ, Chang VT, Biggs D, Preece C, Hernandez-Pliego P, Krohn J, Bhomra A, Twigg SRF, Rimmer A, Kanapin A; WGS500 Consortium, Sen A, Zaiwalla Z, McVean G, Foster R, Donnelly P, Taylor JC, Blair E, Nutt D, Aricescu AR, Greger IH, Peirson SN, Flint J, Martin HC.

Hum Mol Genet. 2017 Oct 15;26(20):3869-3882. doi: 10.1093/hmg/ddx270.

11.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA.

Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26.

12.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH.

J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.

13.

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.

Am J Med Genet A. 2017 Jun;173(6):1586-1592. doi: 10.1002/ajmg.a.38232. Epub 2017 Apr 6.

14.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK.

Hum Mol Genet. 2017 Jun 1;26(11):2118-2132. doi: 10.1093/hmg/ddx107.

15.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

16.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

17.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM.

Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.

18.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.

Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.

19.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO.

Clin Genet. 2016 Sep;90(3):270-5. doi: 10.1111/cge.12721. Epub 2016 Feb 3.

20.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.

21.

A Genetic-Pathophysiological Framework for Craniosynostosis.

Twigg SR, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):359-77. doi: 10.1016/j.ajhg.2015.07.006. Review.

22.

New insights into craniofacial malformations.

Twigg SR, Wilkie AO.

Hum Mol Genet. 2015 Oct 15;24(R1):R50-9. doi: 10.1093/hmg/ddv228. Epub 2015 Jun 17. Review.

23.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

24.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO.

J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.

25.

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF; WGS500 Consortium, Wilkie AOM, McVean G, Lunter G.

Nat Genet. 2014 Aug;46(8):912-918. doi: 10.1038/ng.3036. Epub 2014 Jul 13.

26.

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR.

Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19.

27.

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

van den Elzen ME, Twigg SR, Goos JA, Hoogeboom AJ, van den Ouweland AM, Wilkie AO, Mathijssen IM.

Eur J Hum Genet. 2014 Aug;22(8):995-1001. doi: 10.1038/ejhg.2013.273. Epub 2013 Nov 27.

28.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO.

Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.

29.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO.

Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Erratum in: Nat Genet. 2013 Oct;45(10):1261.

30.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.

Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17.

31.

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.

32.

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.

Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27.

33.

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.

Hum Mutat. 2011 Aug;32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.

34.

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.

Pediatrics. 2010 Aug;126(2):e391-400. doi: 10.1542/peds.2009-3491. Epub 2010 Jul 19.

35.

Median facial cleft dysmorphism in three siblings: case report and review of the literature. Letter.

Twigg SR, Wilkie AO, Versnel SL, Mathijssen IM.

Cleft Palate Craniofac J. 2010 Jul;47(4):430. doi: 10.1597/10-022.1. No abstract available.

PMID:
20187738
36.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.

Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.

37.

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO.

Dev Dyn. 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790.

38.

Hearing loss in a mouse model of Muenke syndrome.

Mansour SL, Twigg SR, Freeland RM, Wall SA, Li C, Wilkie AO.

Hum Mol Genet. 2009 Jan 1;18(1):43-50. doi: 10.1093/hmg/ddn311. Epub 2008 Sep 25.

39.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO.

Hum Genet. 2007 Sep;122(2):191-9. Epub 2007 Jun 14.

PMID:
17569090
40.

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO.

Am J Hum Genet. 2006 Jun;78(6):999-1010. Epub 2006 Apr 28.

41.

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO.

Eur J Hum Genet. 2006 Jul;14(7):884-7. Epub 2006 Apr 26.

42.

Functional analysis of natural mutations in two TWIST protein motifs.

Funato N, Twigg SR, Higashihori N, Ohyama K, Wall SA, Wilkie AO, Nakamura M.

Hum Mutat. 2005 Jun;25(6):550-6.

PMID:
15880747
43.

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

Kan R, Twigg SR, Berg J, Wang L, Jin F, Wilkie AO.

J Med Genet. 2004 Aug;41(8):e108. No abstract available.

44.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO.

Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. Epub 2004 May 27.

45.

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.

Hajihosseini MK, Lalioti MD, Arthaud S, Burgar HR, Brown JM, Twigg SR, Wilkie AO, Heath JK.

Development. 2004 Jan;131(2):325-35. Epub 2003 Dec 10.

46.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.

Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 3.

PMID:
12612583
47.

The African swine fever virus protein j4R binds to the alpha chain of nascent polypeptide-associated complex.

Goatley LC, Twigg SR, Miskin JE, Monaghan P, St-Arnaud R, Smith GL, Dixon LK.

J Virol. 2002 Oct;76(19):9991-9.

48.

A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay.

Brown J, Jawad M, Twigg SR, Saracoglu K, Sauerbrey A, Thomas AE, Eils R, Harbott J, Kearney L.

Blood. 2002 Apr 1;99(7):2526-31.

PMID:
11895789
49.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.

Am J Hum Genet. 2002 Feb;70(2):472-86. Epub 2002 Jan 4.

50.

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.

Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr.

Nat Genet. 2000 Apr;24(4):387-90.

PMID:
10742103

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