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Publications

Selected journal articles

Computerised adaptive testing accurately predicts CLEFT-Q scores by selecting fewer, more patient-focused questions.
Journal of Plastic, Reconstructive & Aesthetic Surgery (In Press)
C. Harrison, D. Geerards, M. Ottenhof, A. Klassen,  K.Wong Riff, M.C. Swan, A. Pusic and C. Sidley-Gibbons.

Further construct validation of the CLEFT-Q: ability to detect differences in outcome for four cleft-specific surgeries.
Journal of Plastic, Reconstructive & Aesthetic Surgery (In Press)
C.J. Harrison, C. Rae, E. Tsangaris, K.W. Wong Riff, M.C. Swan, T.E. Goodacre,   S.J. Cano and A.F. Klassen

CLEFT-Q: detecting differences in outcomes between 2,434 patients with varying cleft type.
Plastic & Reconstructive Surgery (In Press)
K.W.Y. Wong Riff, E. Tsangaris, C. R. Forrest, T.E.E. Goodacre, N. Longmire, G. Allen, D. Courtemanche, J. Goldstein, A. O’Mahony, A.L. Pusic, R. Slator, M.C. Swan, A. Thoma, F. Vargas and A.F. Klassen

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Human Genetics. 2018 Jul 4 (Epub ahead of print)
N. Ragge, … U. Kini et al.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
European Journal of Human Genetics. 2019 Feb;27(2):278-290
R. Verheije, … U. Kini et al.

Care for Rare Canada Consortium. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
European Journal of Human Genetics. 2018 Sep;26(9):1272-1281
P.Y.B Au, … U. Kini et al.

Use of the sphenoid flap in repair of the wide cleft palate.
Cleft Palate Craniofacial Journal 2018; 55(3): 437-441
K. Khan, J. Hardwicke, R. Seselgyte, P. Morris, G. Thorburn, L. Kangesu,  M.C. Swan and B. Richard

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med. 2017 Aug;19(8):900-908.
H. Bengani , … U. Kini et al.

Prenatal ultrasound detection of micrognathia and its association with Robin sequence.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2017; 70 (9): 1308-1311.
J. Kimakhe, O. Gilleard, M.C. Swan, P. Pandya, V. Thakur et al.

Peciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders.
Nature. 2017 Feb 23;542(7642):433-438
J.F McRae, … U. Kini et al.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
European Journal of Human Genetics. 2017 Jun;25(6):669-679.
A.T Pagnamenta, … U. Kini et al.

A comparative study of the aesthetic outcome of two techniques for unilateral complete cleft lip repair.
Plastic & Reconstructive Surgery 2017; 140 (4): 757-764.
G.S.A. Phillips, M.C. Swan, A.R. Sawyer, T.E.E. Goodacre and M. Cadier

Iatrogenic rhinoliths: exercise caution when undertaking palatal-dental impressions in the cleft patient with an incompetent palate.
The Cleft Palate Craniofacial Journal 2017; 54 (4): 487-488
M.C. Swan, S. Popat, G. Kidner, J. Sibley and T.E.E. Goodacre

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nature Genetics. 2016 Nov;48(11):1349-1358
L. Broix,  … U. Kini et al.

Equine oronasal fistula repair: clinical commentary from a human surgery perspective.
Equine Veterinary Education 2016; 28 (10): 556-557.
K. Khan and M.C. Swan

Trans-Oral Robotic Cleft Surgery (TORCS) for palate and posterior pharyngeal wall reconstruction: a feasibility study.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2016; 69 (1): 97-100
K. Khan, T. Dobbs, M.C. Swan and T.E.E. Goodacre

Excluding the bifid uvula in children with speech impairment.
British Medical Journal 2015; 350: h3362.
M.C.Swan, C. Luscombe and T.E.E.Goodacre

Intraoperative high-dose epinephrine infiltration in cleft palate repair.
Journal of Craniofacial Surgery 2014; 25 (5): 1934.
M.C. Swan, G. Thorburn, B.C. Sommerlad, M.J. Sury, P. Morris, L. Kangesu and S. Van Eeden

Global variation in cleft palate repairs: an analysis of 352,191 primary cleft repairs in low to higher middle income countries.
Cleft Palate-Craniofacial Journal 2014; 51 (5): 553-556.
A.M. Hodges, J. Cubitt, K. Van Lierde and M.C. Swan

Lessons in the management of post-operative tension pneumocephalus complicating transcranial resection of advanced cutaneous tumours with free flap reconstruction.
Journal of Cranio-Maxillofacial Surgery 2013; 41 (8): 850-855
M.C. Swan, A.F.M. Scholz, D. Johnson, P.M. Pretorius and S.A. Wall

Prospective analysis of presurgical risk factors for velopharyngeal insufficiency in primary palatoplasty.
Plastic & Reconstructive Surgery 2013; 132 (1): 165-171
M-H. Mahoney, M.C. Swan and D.M. Fisher

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome – history repeating itself.
American Journal of Medical Genetics A 2013; 161(5): 1158-63
S. Jay, A. Wiberg, M.C. Swan, T. Lester, L. Williams, I. Taylor, D. Johnson and A.O. Wilkie

Development of a novel anisotropic self-inflating tissue expander: in vivo submucoperiosteal performance in the porcine hard palate.
Plastic & Reconstructive Surgery 2012; 129 (1): 79-88
M.C. Swan, D G. Bucknall, J.T. Czernuszka, D. Pigott and T.E.E. Goodacre

Coping with a cleft II: factors associated with psychosocial adjustment of adolescents with a cleft lip and palate and their parents.
The Cleft Palate-Craniofacial Journal 2011; 48(1): 82-90
Z.E. Berger and L.J. Dalton

Coping with a Cleft: Psychosocial Adjustment of Adolescents with a Cleft Lip and Palate and Their Parents.
The Cleft Palate-Craniofacial Journal 2009; 46(4): 435-443
Z.E. Berger and L.J. Dalton

Books and book chapters

Outcome Assessment in Cleft Surgery
M.C. Swan and T.E.E. Goodacre
In: The Oxford Textbook of Plastic Surgery
Edited by F. Mehendele, Oxford University Press 2018

Cleft Lip. In: Plastic and Reconstructive Surgery: Approach & Techniques
M.C. Swan and D.M. Fisher.
Edited by R.D. Farhadieh, N. Bulstrode and S. Cugno, Wiley Press 2015

Cleft Lip & Palate Surgery. In: Oxford Handbook of Plastic & Reconstructive Surgery
M.C. Swan.
Oxford University Press 2008 (1st Edition) and 2019 (2nd Edition: in print)
Edited by H. Giele and O.C.S. Cassell

Speech Therapy in Cleft Palate and Velopharyngeal Dysfunction. Phippen, G (Ed.) (2014). Surrey: J&R Press Ltd.
Phippen, G (Ed.) (2014). Surrey: J&R Press Ltd.