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Items: 1 to 50 of 81

1.

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.

2.

Complement-mediated thrombotic microangiopathy as a link between endothelial damage and steroid-refractory GVHD.

Wall SA, Zhao Q, Yearsley M, Blower L, Agyeman A, Ranganathan P, Yang S, Wu H, Bostic M, Jaglowski S, Brammer JE, William B, Choe H, Mims AS, Penza S, Efebera Y, Devine S, Cataland S, Davies SM, Vasu S.

Blood Adv. 2018 Oct 23;2(20):2619-2628. doi: 10.1182/bloodadvances.2018020321.

3.

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.

4.

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.

5.

Clinical genetics of craniosynostosis.

Wilkie AOM, Johnson D, Wall SA.

Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. Review.

6.

The who, how and why: Allogeneic transplant for acute myeloid leukemia in patients older than 60years.

Wall SA, Devine S, Vasu S.

Blood Rev. 2017 Nov;31(6):362-369. doi: 10.1016/j.blre.2017.07.002. Epub 2017 Jul 15. Review.

7.

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.

8.

The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis.

Dobbs TD, Salahuddin O, Jayamohan J, Richards P, Magdum S, Wall SA, Johnson D.

Plast Reconstr Surg. 2017 Jun;139(6):1325e-1332e. doi: 10.1097/PRS.0000000000003371.

PMID:
28538575
9.

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.

10.

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.

11.

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.

12.

Response.

Wall SA, Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, McAuley DJ, Richards PG.

J Neurosurg Pediatr. 2015 Sep;16(3):352-5. No abstract available.

PMID:
26554080
13.

Response.

Wall SA, Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, McAuley DJ, Richards PG.

J Neurosurg Pediatr. 2015 Sep;16(3):348-9. No abstract available.

PMID:
26554078
14.

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.

15.

Periodical shifts in the surgical correction of sagittal craniosynostosis.

Thomas GP, Johnson D, Byren JC, Judge AD, Jayamohan J, Magdum SA, Richards PG, Wall SA.

J Neurosurg Pediatr. 2015 Apr;15(4):348-9. No abstract available.

PMID:
25996012
16.

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.

17.

An Effective and Novel Technique for Hair Control in Craniofacial Surgery.

Inciarte MA, Thomas GP, Wall SA, Johnson D.

Plast Reconstr Surg. 2015 Aug;136(2):285e-286e. doi: 10.1097/PRS.0000000000001440. No abstract available.

PMID:
25946607
18.

Association of mutations in FLNA with craniosynostosis.

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO.

Eur J Hum Genet. 2015 Dec;23(12):1684-8. doi: 10.1038/ejhg.2015.31. Epub 2015 Apr 15.

19.

Long-term morphological outcomes in nonsyndromic sagittal craniosynostosis: a comparison of 2 techniques.

Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, Richards PG, Wall SA.

J Craniofac Surg. 2015 Jan;26(1):19-25. doi: 10.1097/SCS.0000000000001107.

PMID:
25569384
20.

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.

Thomas GP, Johnson D, Byren JC, Judge AD, Jayamohan J, Magdum SA, Richards PG, Wall SA.

J Neurosurg Pediatr. 2015 Apr;15(4):350-60. doi: 10.3171/2014.11.PEDS1426. Epub 2015 Jan 10.

PMID:
25559921
21.

The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored by a novel method of preoperative and postoperative visual assessment.

Bendon CL, Johnson HP, Judge AD, Wall SA, Johnson D.

Plast Reconstr Surg. 2014 Nov;134(5):775e-786e. doi: 10.1097/PRS.0000000000000633.

PMID:
25347653
22.

The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature.

Wall SA, Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, McAuley DJ, Richards PG.

J Neurosurg Pediatr. 2014 Dec;14(6):674-81. doi: 10.3171/2014.8.PEDS1425. Epub 2014 Sep 26.

PMID:
25259602
23.

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.

24.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO.

BMC Med Genet. 2014 Aug 31;15:95. doi: 10.1186/s12881-014-0095-4.

25.

Lessons learned in posterior cranial vault distraction.

Thomas GP, Wall SA, Jayamohan J, Magdum SA, Richards PG, Wiberg A, Johnson D.

J Craniofac Surg. 2014 Sep;25(5):1721-7. doi: 10.1097/SCS.0000000000000995.

PMID:
25162545
26.

A novel use of the rigid external distraction frame: acute on-table distraction with autologous bone grafting.

Dobbs TD, Watt-Smith SR, Wall SA, Johnson D.

J Craniofac Surg. 2014 Sep;25(5):1843-5. doi: 10.1097/SCS.0000000000001117.

PMID:
25102396
27.

A novel technique to secure the Rigid External Distraction (RED) frame in a thin skull allowing sutural mid-face distraction.

Dobbs TD, Wall SA, Richards PG, Johnson D.

J Craniomaxillofac Surg. 2014 Oct;42(7):1048-51. doi: 10.1016/j.jcms.2014.01.027. Epub 2014 Jan 15.

PMID:
24530080
28.

The relationship between scaphocephaly at the skull vault and skull base in sagittal synostosis.

Bendon CL, Sheerin FB, Wall SA, Johnson D.

J Craniomaxillofac Surg. 2014 Apr;42(3):245-9. doi: 10.1016/j.jcms.2013.05.009. Epub 2013 Jun 22.

PMID:
23800755
29.

Parental allografts in the management of Adams-Oliver syndrome.

Henderson TO, Thomas GP, Wall SA.

Childs Nerv Syst. 2013 Aug;29(8):1223-4. doi: 10.1007/s00381-013-2174-9. Epub 2013 Jun 6. No abstract available.

PMID:
23740178
30.

Lessons in the management of post-operative tension pneumocephalus complicating transcranial resection of advanced cutaneous tumours with free flap reconstruction.

Swan MC, Scholz AF, Pretorius PM, Johnson D, Martinez-Devesa P, Wall SA.

J Craniomaxillofac Surg. 2013 Dec;41(8):850-5. doi: 10.1016/j.jcms.2013.01.042. Epub 2013 Feb 26.

PMID:
23485485
31.

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.

32.

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.

33.

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.

34.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.

35.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AO, Johnson D.

BMC Med Genet. 2012 Nov 9;13:104. doi: 10.1186/1471-2350-13-104.

36.

Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features.

Eley KA, Johnson D, Wilkie AO, Jayamohan J, Richards P, Wall SA.

Plast Reconstr Surg. 2012 Nov;130(5):690e-697e. doi: 10.1097/PRS.0b013e318267d5ae.

PMID:
23096622
37.

Posterior calvarial distraction in craniosynostosis - an evolving technique.

Wiberg A, Magdum S, Richards PG, Jayamohan J, Wall SA, Johnson D.

J Craniomaxillofac Surg. 2012 Dec;40(8):799-806. doi: 10.1016/j.jcms.2012.02.018. Epub 2012 May 4.

PMID:
22560871
38.

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Sharma VP, Wall SA, Lord H, Lester T, Wilkie AO.

Cleft Palate Craniofac J. 2012 May;49(3):373-7. doi: 10.1597/11-185. Epub 2011 Nov 25.

PMID:
22117175
39.

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I.

Am J Hum Genet. 2011 Jul 15;89(1):67-81. doi: 10.1016/j.ajhg.2011.05.024.

40.

Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases.

Morritt DG, Yeh FJ, Wall SA, Richards PG, Jayamohan J, Johnson D.

Plast Reconstr Surg. 2010 Aug;126(2):572-80. doi: 10.1097/PRS.0b013e3181e09533.

PMID:
20679839
41.

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.

42.

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO.

Am J Med Genet A. 2010 Jun;152A(6):1383-9. doi: 10.1002/ajmg.a.33435.

PMID:
20503312
43.

Combined internal and external Le Fort III distraction osteogenesis--the "elusive vector".

Wall SA, Butler L, Byren J, Carls PF, Greenwood S, McKnight M, Middleton J, Saeed N.

J Craniofac Surg. 2009 Sep;20 Suppl 2:1806-8. doi: 10.1097/SCS.0b013e3181b6c1c9.

PMID:
19816354
44.

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

Bochukova EG, Soneji S, Wall SA, Wilkie AO.

J Med Genet. 2010 Dec;47(12):803-8. doi: 10.1136/jmg.2009.069617. Epub 2009 Sep 15.

45.

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Woods RH, Ul-Haq E, Wilkie AO, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA.

Plast Reconstr Surg. 2009 Jun;123(6):1801-10. doi: 10.1097/PRS.0b013e3181a3f391. Review.

46.

Reconstruction of a congenital nasal deformity using skin tags as a chondrocutaneous composite graft.

Eley KA, Pleat JM, Wall SA.

J Craniofac Surg. 2009 Mar;20(2):573-5. doi: 10.1097/SCS.0b013e31819ba523.

PMID:
19305262
47.

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.

48.

Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis.

Marucci DD, Johnston CP, Anslow P, Jayamohan J, Richards PG, Wilkie AO, Wall SA.

Plast Reconstr Surg. 2008 Jul;122(1):217-24. doi: 10.1097/PRS.0b013e3181774240.

PMID:
18594408
49.

Management of positional plagiocephaly.

Saeed NR, Wall SA, Dhariwal DK.

Arch Dis Child. 2008 Jan;93(1):82-4. Review. No abstract available.

PMID:
18156480
50.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. Review.

PMID:
17621648

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