Journal articles
2023
Inter-rater reliability in classification of canonical babbling status based on canonical babbling ratio in infants with isolated cleft palate randomised to Timing of Primary Surgery for Cleft Palate (TOPS).
Clinical Linguistics & Phonetics 2023; 37 (1): 77-98
Willadsen, E., …, Phippen, G., … & Persson, C.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study.
Genetics in Medicine 2023; 25 (1): 37-48.
Loong, L., …, & Kini, U.
Isolation, uncertainty and treatment delays: parents’ experiences of having a baby with cleft lip/palate during the Covid-19 pandemic.
The Cleft Palate-Craniofacial Journal 2023; 60 (1): 82-92.
Costa, B., …, Hotton, M., Swan, M. C., & Stock, N. M.
2022
The Impact of the Covid-19 pandemic on cleft lip and palate service delivery for new families in the United Kingdom: medical and community service provider perspectives.
The Cleft Palate-Craniofacial Journal 2022; online ahead of print.
McWilliams, D., …, Swan, M. C., Hotton, M., … & Stock, N. M.
Transitioning from child to adult cleft lip and palate services in the United Kingdom: are the NICE guidelines reflected in young adults’ experiences?
Psychology, Health & Medicine 2022; online ahead of print.
Mcwilliams, D., Thornton, M., Hotton, M., Swan, M. C., & Stock, N. M
The throat pack debate: a review of current practice in UK and Ireland cleft centres.
The Cleft Palate-Craniofacial Journal 2022; 59 (2): 185-191.
Curran, T. A., …, Thornburn, G., Swan, M. C., & Fallico, N.
Peer Assessment Rating (PAR) scoring of cleft patients treated within a regional cleft centre in the United Kingdom.
Journal of Orthodontics 2022; 49 (1): 17-23.
Furness, C., Veeroo, H., Kidner, G., & Cobourne, M. T
Cognitive, behavioural, speech, language and developmental outcomes associated with pathogenic variants in the ERF gene.
Journal of Craniofacial Surgery 2022; 33 (6): 1847-1852.
Care, H., Luscombe, C., Wall, S. A., Dalton, L., Johnson, D., & Wilkie, A. O.
Hearing, speech, language, and communicative participation in patients with Apert syndrome: analysis of correlation with fibroblast growth factor receptor 2 mutation.
Journal of Craniofacial Surgery 2022; 33 (1): 243-250.
Kilcoyne, S., Luscombe, C., Scully, P., Overton, S., Brockbank, S., Swan, M. C., … & Wilkie, A. O.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genetics in Medicine 2022; 24 (10): 2051-2064.
De Boer, E., …, Kini, U., … & Kleefstra, T.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Human Molecular Genetics 2022; 31 (3): 440-454.
Gregor, A., …, Kini, U., … & Zweier, C.
Staff support during COVID-19 within an acute hospital trust
Occupational Medicine 2022; 72 (5): 298–304.
Blighe, S., Hotton, M., … & Samuel, R.
Surgical performance anxiety and wellbeing among surgeons: a cross-sectional study in the United Kingdom.
Annals of Surgery 2022; 275 (4): 632-639.
Miller, R., Hotton, M., …, Goodacre, T., …, & Chan, J. K.
Traumatic acquired oronasal palatal fistula in an adult patient with an undiagnosed submucous cleft palate.
Irish Medical Journal 2022; 115 (10): 700-703.
See, I. J. L., Martin, S., Thorburn, T. G., & Swan, M. C.
Objective and subjective evaluation of velopharyngeal dysfunction (VPD) following surgical repair of the cleft palate using the Furlow palatoplasty – a new tool.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2022; 75 (9): 3448-3456.
Rizzo, M. I., Fallico, N., …, & Zama, M.
2021
Interpersonal relationship experiences in adults born with cleft lip and/or palate: a whole of life survey in the United Kingdom.
The Cleft Palate-Craniofacial Journal 2021; 58 (11): 1412-1421.
Ardouin, K., Hotton, M., & Stock, N. M.
Lockdown lessons: The virtual cleft multidisciplinary clinic.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2021; 74 (8): 1931-1971.
Armstrong, A. C. G., Sibley, J., Phippen, G., Popat, S., Pal, R., Kini, U., Hotton, M., Kidner, G., Thorburn, G. T., & Swan, M. C.
A simple training method to practice cleft lip and palate markings for trainee surgeons.
The Cleft Palate-Craniofacial Journal 2021; 58 (10): 1335-1336.
Padmanabhan, R., Rahman, S., & Fallico, N.
Optimising the computerised adaptive test to reliably reduce the burden of administering the CLEFT-Q: A Monte Carlo simulation study.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2021; 74 (6): 1355-1401.
Harrison, C. J., …, Swan, M. C., …, & Sidey-Gibbons, C. J.
Deeper understanding of appearance in orofacial clefts: a structural equation model of the CLEFT-Q appearance scales.
Plastic and Reconstructive Surgery Global Open 2021; 9 (9): e3806.
Harrison, C. J., …, Swan, M. C., & Rodrigues, J. N.
Recursive partitioning versus computerized adaptive testing to reduce the burden of health assessments in cleft lip and/or palate: comparative simulation study.
Journal of Medical Internet Research 2021; 23 (7): e26412.
Harrison, C. J., …, Swan, M. C., & Rodrigues, J. N.
FACE-Q craniofacial module: validation of CLEFT-Q scales for use in children and young adults with facial conditions.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2021; 74 (9); 2319-2329.
Klassen, A. F., …, Swan, M. C., Goodacre, T., …, & Cano, S
A prospective study to examine responsiveness and minimally important differences (MIDs) for the CLEFT-Q scales following three cleft-specific operations.
The Cleft Palate-Craniofacial Journal 2021; online ahead of print.
Miroshnychenko, A., …, Goodacre, T., Swan, M. C., … & Klassen, A.
Making the case for the collection of a minimal dataset for children with speech sound disorder.
International Journal of Language & Communication Disorders 2021; 56 (5): 1097-1107.
Morgan, L., Overton, S., S., Titterington, J., & Wren, Y.
Velopharyngeal incompetence in children with 22q11. 2 deletion syndrome: velar and pharyngeal dimensions.
Journal of Craniofacial Surgery 2021; 32 (2): 578-580.
Seselgyte, R., Swan, M. C., Birch, M. J., & Kangesu, L.
2020
Parental judgement of hearing loss in infants with cleft palate.
The Cleft Palate-Craniofacial Journal 2020; 57 (7): 886-894.
McAndrew, L.
Use of preoperative cervical vascular imaging in patients with velocardiofacial syndrome and velopharyngeal dysfunction in the United Kingdom.
The Cleft Palate-Craniofacial Journal 2020; 57 (6): 694-699.
Fallico, N., Timoney, N., & Atherton, D.
A simple but effective way to protect the oral commissures during cleft surgery.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2020; 73 (10): 1897-1916.
Fallico, N., …, & Timoney, N.
A cadaveric study of the buccal fat pad: implications for closure of palatal fistulae and donor-site morbidity.
Plastic and Reconstructive Surgery 2020; 146 (6): 1331-1339.
Echlin, K., …, Fallico, N., & Atherton, D. D.
The psychosocial adjustment of children born with a cleft lip and/or palate: cross-sectional and longitudinal analyses.
The Cleft Palate-Craniofacial Journal 2020; 57 (11): 1280-1290.
Pinckston, M., …, & Hotton, M. T.
2019
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; 27 (2): 278-290.
Verheije, R., …, Kini, U. et al.
Computerised adaptive testing accurately predicts CLEFT-Q scores by selecting fewer, more patient-focused questions.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2019; 72 (11): 1819-1824.
Harrison, C., …, Swan, M. C., …, & Sidley-Gibbons, C.
Further construct validation of the CLEFT-Q: ability to detect differences in outcome for four cleft-specific surgeries.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2019: 72 (12): 2049-2055.
Harrison, C. J., …, Swan, M. C., Goodacre, T. E., …, & Klassen, A. F.
CLEFT-Q: detecting differences in outcomes between 2,434 patients with varying cleft type.
Plastic & Reconstructive Surgery 2019; 144 (1): e78-88.
Wong Riff, K. W. Y., …, Goodacre, T. E. E., …, Swan, M. C., …, & Klassen, A. F.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Human Genetics 2019; 138 (8-9): 1051-1069.
Ragge, N., …, Kini, U., et al.
2018
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; 26 (9): 1272-1281.
Au, P. Y. B., …, Kini, U., et al.
Use of the sphenoid flap in repair of the wide cleft palate.
Cleft Palate Craniofacial Journal 2018; 55 (3): 437-441.
Khan, K., …, Thorburn, G., …, Swan, M. C., & Richard, B.
2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genetics in Medicine 2017; 19 (8): 900-908.
Bengani, H., …, Kini, U., et al.
Prenatal ultrasound detection of micrognathia and its association with Robin sequence.
Journal of Plastic, Reconstructive & Aesthetic Surgery 2017; 70 (9): 1308-1311.
Kimakhe, J., Gilleard, O., Swan M. C., et al.
Peciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders.
Nature 2017; 542 (7642): 433-438.
McRae, J. F., …, Kini, U., 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; 25 (6): 669-679.
Pagnamenta, A. T., …, Kini, U., 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.
Phillips, G. S. A., Swan, M. C., Sawyer, A. R., Goodacre, T. E. E., & Cadier, M.
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.
Swan, M. C., Popat, S., Kidner, G., Sibley, J., & Goodacre, T. E. E.
2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nature Genetics 2016; 48 (11): 1349-1358.
Broix, L., …, Kini, U., et al.
Equine oronasal fistula repair: clinical commentary from a human surgery perspective.
Equine Veterinary Education 2016; 28 (10): 556-557.
Khan, K. & Swan, M. C.
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.
Khan, K., Dobbs, T., Swan, M. C., & Goodacre, T. E. E.
2015
Excluding the bifid uvula in children with speech impairment.
British Medical Journal 2015; 350: 3362.
Swan, M. C., Luscombe, C., & Goodacre, T. E. E.
2014
Intraoperative high-dose epinephrine infiltration in cleft palate repair.
Journal of Craniofacial Surgery 2014; 25 (5): 1934.
Swan, M. C., Thorburn, G., …, & Van Eeden, S.
Global variation in cleft palate repairs: an analysis of 352,191 primary cleft repairs in low to higher middle income countries.
The Cleft Palate-Craniofacial Journal 2014; 51 (5): 553-556.
Hodges, A. M., Cubitt, J., Van Lierde, K. & Swan, M. C.
2013
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.
Swan, M. C., …, & Wall, S. A.
Prospective analysis of presurgical risk factors for velopharyngeal insufficiency in primary palatoplasty.
Plastic & Reconstructive Surgery 2013; 132 (1): 165-171.
Mahoney, M-H., Swan, M. C. & Fisher, D. M.
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome – history repeating itself.
American Journal of Medical Genetics 2013; 161(5): 1158-63.
Jay, S., Wiberg, A., Swan, M. C., …, & Wilkie, A. O.
Books and book chapters
Plastic & Reconstructive Surgery
J. Chan and M.C. Swan
In: Bailey & Love’s Short Practice of Surgery, 28th Edition
Edited by P.R. O’Connell, A. McCaskie and R. Sayers, CRC Press 2023
Cleft Lip & Palate Surgery
M.C. Swan.
In: Plastic & Reconstructive Surgery, Oxford Specialist Handbook Series
Edited by H. Giele and O.C.S. Cassell
Oxford University Press 2008 (1st Edition) and 2023 (2nd Edition)
Unilateral and Bilateral Cleft Lip Reconstruction
M.C. Swan and D.M. Fisher.
In: Plastic Surgery: Principles & Practice
Edited by R.D. Farhadieh, N. Bulstrode, Elsevier Press 2021
Outcome Assessment in Cleft Surgery
M.C. Swan, C.J. Harrison and T.E.E. Goodacre
In: The Oxford Textbook of Plastic Surgery
Edited by S.P. Kay, D. McCombe and D. Wilks, Oxford University Press 2021
Cleft Lip & Palate Surgery
M.C. Swan.
In: Oxford Handbook of Plastic & Reconstructive Surgery
Oxford University Press 2008 (1st Edition) and 2019 (2nd Edition: in print)
Edited by H. Giele and O.C.S. Cassell
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
Microsurgery for obstetrical brachial plexus birth palsy
M.C. Swan and H.M. Clarke.
In: The Pediatric Upper Extremity
Edited by J.M. Abzug, S.H. Kozin and D.A. Zlotolow, Springer Press 2015
Cleft Lip
M.C. Swan and D.M. Fisher.
In: Plastic and Reconstructive Surgery: Approach & Techniques
Edited by R.D. Farhadieh, N. Bulstrode and S. Cugno, Wiley Press 2015
Hearing Difficulties (Chapter 5) & Electropalatography (Chapter 10)
L. McAndrew
In: Speech Therapy in Cleft Palate and Velopharyngeal Dysfunction.
G. Phippen (Ed.) Guildford: J&R Press 2014