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Publications

Journal articles

2025

Does Hearing Improve Following Primary Cleft Palate Repair?
Authors:
 Stylianou, Theodoros; Tay, Jing Qin; Soylu, Erdinc; Geyer, Marcel and Fallico, Nefer
Publication Date: Feb 03 ,2025
Journal: Cleft Palate-Craniofacial Journal 10556656251318451

Patient Safety and Suitability for Primary Cleft Lip Repair as Day Case Surgery – A Systematic Review and Meta-Analysis.
Authors:
 Martin, Serena V.; Reed, Benedict and Fallico, Nefer
Publication Date: Jan ,2025
Journal: Cleft Palate-Craniofacial Journal 62(1), pp. 97–107

The Use of Fixed and Removable Bite Blocks in Bilateral Buccinator Flap Surgery for Velopharyngeal Insufficiency.
Authors:
 Coull, Lucy; Bussell, Mary and Fallico, Nefer
Publication Date: Feb 18 ,2025
Journal: Cleft Palate-Craniofacial Journal 10556656251314257

2024

Analysis and Reporting of Randomized Trials in Cleft Palate Surgery: Learning from the Timing of Primary Surgery (TOPS) Trial.
Authors:
 Fell, Matthew; Phippen, Ginette; van Eeden, Stephanie; Chong, David; Swan, Marc C.; van Eeden, Simon and Carlin, John B.
Publication Date: May 09 ,2024
Journal: Cleft Palate-Craniofacial Journal 10556656241253949

Are NHS cleft services in England ready for delegation to integrated care systems?
Authors:
 Fell M.; Chadha A. and van Eeden, S.
Publication Date: 2024
Journal: British Dental Journal 236(6), pp. 443–446

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
Authors: Salazar-Villacorta, Ainara; Spaull, Robert; Chowdhury, Samyami; Mukhtyar, Bina; Chitre, Manali; Armstrong, Ruth; Sa, Mario; Chandratre, Saleel; Kini, Usha; Chinthapalli, Ravi; Mankad, Kshitij; Sudhakar, Sniya; Pope, Simon; Heales, Simon and Kurian, Manju A.
Publication Date: Sep ,2024
Journal: Movement Disorders Clinical Practice 11(9), pp. 1149–1152

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Authors: Sarli, Camilla… Kini, Usha …et al.
Publication Date: 2024
Journal: American Journal of Medical Genetics.Part C, Seminars in Medical Genetics 196(4), pp. e32089

Cleft lip Sidedness and the Association with Additional Congenital Malformations.
Authors:
 Fell, Matthew; Fitzsimons, Kate J.; Hamilton, Mark J.; Medina, Jibby; Butterworth, Sophie; Park, Min Hae; Van der Meulen, Jan; Lewis, Sarah; Chong, David and Russell, Craig Jh
Publication Date: Jun 13 ,2024
Journal: Cleft Palate-Craniofacial Journal 10556656241261918

Demystifying the Suprazygomatic Maxillary Nerve Block in Paediatric Cleft Palate Surgery.
Authors:
 Fell, Matthew; Fenner, Lynn and Fallico, Nefer
Publication Date: Sep 10 ,2024
Journal: Cleft Palate-Craniofacial Journal 10556656241284514

Enhancing the vermilion in adult secondary cleft lip repair with a continuous V plasty without closure of the donor defect-a case series.
Authors:
 Pahal, Gurjinderpal; Swan, Marc; Hay, Norman; Patel, Brijesh; Thorburn, Guy and Kangesu, Loshan
Publication Date: Mar ,2024
Journal: Journal of Cranio-Maxillo-Facial Surgery 52(3), pp. 374–377

“It’s On Your Shoulders Now” Transitioning from Child-to-Adult UK Cleft Lip/Palate Services: An Exploration of Young Adults’ Narratives.
Authors:
 McWilliams, Danielle; Thornton, Maia; Hotton, Matthew; Swan, Marc C. and Marie Stock, Nicola
Publication Date: Mar 04 ,2024
Journal: Cleft Palate-Craniofacial Journal 10556656241236006

PSMC5 insufficiency and P320R mutation impair proteasome function.
Authors:
 Yu, Zhong-Qiu; Carmichael, Jenny; Collins, Galen A.; D’Agostino, Maria Daniela; Lessard, Mathieu; Firth, Helen V.; Harijan, Pooja; Fry, Andrew E.; Dean, John; Zhang, Jiuchun; Kini, Usha; Goldberg, Alfred L. and Rubinsztein, David C.
Publication Date: 2024
Journal: Human Molecular Genetics 33(17), pp. 1506–1523

Reflective Foreign Bodies Mimicking Fistulae of the Hard Palate in the Paediatric Population.
Authors:
 Martin, Serena; Thorburn, Terence Guy and Swan, Marc Christopher
Publication Date: Jul ,2024
Journal: Cleft Palate-Craniofacial Journal 61(7), pp. 1238–1240

Remote appointments in Orthodontics and Oral and Maxillofacial Surgery: Part 1 service evaluation.
Authors:
 Hans, Gurdeep Kaur; Hunt, Nigel Peter and Travess, Helen
Publication Date: Dec 20 ,2024
Journal: Journal of Orthodontics 14653125241301452

Remote appointments in orthodontics and oral and maxillofacial surgery: Part 2 clinician perceptions.
Authors:
 Hans, Gurdeep Kaur; Hunt, Nigel Peter and Travess, Helen
Publication Date: Dec 20 ,2024
Journal: Journal of Orthodontics 14653125241301450

Rhinomanometry evidence in children treated by Furlow’s palatoplasty for velopharyngeal insufficiency correlated to cleft palate.
Authors:
 Rizzo, Maria Ida; Fallico, Nefer; Palmieri, Annapina; Ciofalo, Andrea; Ruoppolo, Giovanni; Greco, Antonio and Zama, Mario
Publication Date: June ,2024
Journal: Il Giornale Di Chirurgia – Journal of the Italian Association of Hospital Surgeons 44(3), pp. e49

Social Media and Website Use: The Experiences of Parents and Carers Accessing Care at the Oxford Craniofacial Unit.
Authors:
 Kilcoyne, Sarah; Overton, Sarah; Brockbank, Sally; Lloyd-White, Samuel; Samuel, Rosanna; Hotton, Matthew; Cropper, Jennifer; Thomas, Gregory P. L.; Ching, C. Rosanna and Johnson, David
Publication Date: 2024
Journal: Journal of Craniofacial Surgery 35(1), pp. 104–110

Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
Authors:
 Kilcoyne, Sarah; Scully, Paula; Overton, Sarah; Brockbank, Sally; Thomas, Gregory; Ching, Rosanna; Jayamohan, Jayaratnam; Ramsden, James; Jones, Jon; Wilkie, Andrew and Johnson, David
Publication Date: May ,2024
Journal: Journal of Craniofacial Surgery 35(3), pp. 916–922

The Influence of Sidedness in Unilateral Cleft Lip and Palate on Mid Facial Growth at Five Years of Age.
Authors:
 Fell, Matthew; Chong, David; Parmar, Paras; Su, Ting-Li; Enocson, Lars and Richard, Bruce
Publication Date: Feb 12 ,2024
Journal: Cleft Palate-Craniofacial Journal 10556656241233220

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Authors:
 Watts, Laura M.; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R.; Zambonin, Jessica L.; Curry, Cynthia J.; Martin, Blanche; Tooze, Rebecca S.; Hawkes, Lara; Kini, Usha; Twigg, Stephen R. F. and Wilkie, Andrew O. M.
Publication Date: Jul ,2024
Journal: European Journal of Human Genetics 32(7), pp. 864–870

2023

25 years of successful cleft MDTs.
Authors:
 Ashley M.P. and Popat, S.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 841

A multicentre study to assess speech outcomes at the age of 5 years in children with complete bilateral cleft lip and palate: a comparison of single-stage versus two-stage lip repair techniques.
Item Type: 
Conference Proceeding
Authors: Khera B., Laverty L., Martin S., Kerby J., Overton S., O’Conor E., Van Eeden S., Hill C., Hodgkinson P., Sainsbury D., Thorburn G. and Swan, M.
Publication Date: 2023
Publication Details: Cleft Palate Craniofacial Journal. Conference: 80th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2023. Raleigh, NC United States. 60(5 Supplement) (pp 8); SAGE Publications Ltd

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Authors:
 Wilson K.; Newbury D.F. and Kini, U.
Publication Date: 2023
Journal: Human Molecular Genetics 32(11), pp. 1932–1942

An essential overview of orofacial clefting.
Authors:
 Martin S.V. and Swan, M. C.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 937–942

An introduction to the UK care pathway for children born with a cleft of the lip and/or palate.
Authors:
 Dudding T.; Martin S. and Popat, S.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 943–946

A Prospective Study to Examine Responsiveness and Minimally Important Differences (MIDs) for the CLEFT-Q Scales Following Three Cleft-Specific Operations.
Authors:
 Miroshnychenko A.; Rae C.; Wong Riff K.; Forrest C.R.; Goodacre T.; Swan M.C.; Slator R.; Goldstein J.; Thoma A.; Harman K. and Klassen, A.
Publication Date: 2023
Journal: Cleft Palate-Craniofacial Journal 60(4), pp. 413–420

Articulating the issues: speech assessment and intervention in cleft lip and palate.
Authors:
 Phippen, G.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 912–917

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Authors:
 Loong, Lucy… Kini, Usha …et al.
Publication Date: 2023
Journal: Genetics in Medicine 25(1), pp. 37–48

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Authors: Huth, Emily A…. Kini, Usha …et al.
Publication Date: 2023
Journal: European Journal of Human Genetics 31(12), pp. 1430–1439

Clinical Yield of Rapid Whole Exome Sequencing in Acutely Unwell Children with Suspected Monogenic Disorders as Requested by a Paediatric Neurology Service.
Item Type: 
Conference Proceeding
Authors: Millington P.G., Sasaki E., Hanington L.J., Kini U. and Sa, M.
Publication Date: 2023
Publication Details: Developmental Medicine and Child Neurology. Conference: Annual Meeting of the British Paediatric Neurology Association. Edinburgh United Kingdom. 65(Supplement 1) (pp 17); John Wiley and Sons Inc

FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model.
Item Type: 
Conference Proceeding
Authors: Gregor A…. Kini U…. et al.
Publication Date: 2023
Publication Details: European Journal of Human Genetics. Conference: 55th European Society of Human Genetics Conference, ESHG 2022. Vienna Austria. 31(Supplement 1) (pp 28-29); Springer Nature

Furlow Palatoplasty as Day Case Surgery – A Regional Cleft Unit Experience.
Item Type: 
Conference Proceeding
Authors: Glynn N., Martin S. and Hill, C.
Publication Date: 2023
Publication Details: Cleft Palate Craniofacial Journal. Conference: 80th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2023. Raleigh, NC United States. 60(5 Supplement) (pp 70); SAGE Publications Ltd

Genetics and orofacial clefts: a clinical perspective.
Authors:
 Kini, U.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 947–952

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Authors:
 Wright, Caroline F….et al. for the DDD Study
Publication Date: Apr 27 ,2023
Journal: New England Journal of Medicine 388(17), pp. 1559–1571

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).
Authors:
 Willadsen, Elisabeth… Phippen, Ginette …et al.
Publication Date: 2023
Journal: Clinical Linguistics & Phonetics 37(1), pp. 77–98

Isolation, Uncertainty and Treatment Delays: Parents’ Experiences of Having a Baby with Cleft Lip/Palate During the Covid-19 Pandemic.
Authors:
 Costa, Bruna; McWilliams, Danielle; Blighe, Sabrina; Hudson, Nichola; Hotton, Matthew; Swan, Marc C. and Stock, Nicola Marie
Publication Date: 2023
Journal: Cleft Palate-Craniofacial Journal 60(1), pp. 82–92

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Item Type: Conference Proceeding
Authors: De Boer E…. Kini U. …et al.
Publication Date: 2023
Publication Details: European Journal of Human Genetics. Conference: 55th European Society of Human Genetics Conference, ESHG 2022. Vienna Austria. 31(Supplement 1) (pp 444-445); Springer Nature

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Authors:
 Bernkopf, Marie… Kini, Usha et al.
Publication Date: 2023
Journal: Nature Communications 14(1), pp. 853

Primary Cleft Lip Repair as a Day Case Procedure.
Item Type: 
Conference Proceeding
Authors: Martin S., Laverty L. and Hill, C.
Publication Date: 2023
Publication Details: Cleft Palate Craniofacial Journal. Conference: 80th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2023. Raleigh, NC United States. 60(5 Supplement) (pp 106-107); SAGE Publications Ltd

Psychometric Validation of the CLEFT-Q Patient Reported Outcome Measure: A Prospective Study to Examine Cross-Sectional Construct Validity.
Authors:
 Miroshnychenko, Anna; Rae, Charlene; Riff, Karen Wong; Forrest, Christopher; Goodacre, Tim; Swan, Marc; Slator, Rona; Goldstein, Jesse; Thoma, Achilleas; Harman, Karen and Klassen, Anne
Publication Date: 2023
Journal: Cleft Palate-Craniofacial Journal 60(3), pp. 327–335

Restorative dentistry in the young cleft patient.
Authors:
 Critchlow, Simon B. and Popat, Sandip
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 881–886

Secondary surgery techniques to optimise functional and aesthetic outcomes in orofacial clefting.
Authors:
 Martin, Serena V.; Van Eeden, Simon and Swan, Marc C.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 899–905

Sidedness in Unilateral Orofacial Clefts: A Systematic Scoping Review.
Authors:
 Fell, Matthew; Bradley, Daniel; Chadha, Ambika; Butterworth, Sophie; Davies, Amy; Russell, Craig; Richard, Bruce; Wren, Yvonne; Lewis, Sarah and Chong, David
Publication Date: Dec 13 ,2023
Journal: Cleft Palate-Craniofacial Journal 10556656231221027

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Authors:
 Pagnamenta, Alistair T…. Kini, Usha …et al.
Publication Date: 2023
Journal: Genome Medicine 15(1), pp. 94

The Development, Deployment, and Evaluation of the CLEFT-Q Computerized Adaptive Test: A Multimethods Approach Contributing to Personalized, Person-Centered Health Assessments in Plastic Surgery.
Authors:
 Harrison, Conrad; Apon, Inge; Ardouin, Kenny; Sidey-Gibbons, Chris; Klassen, Anne; Cano, Stefan; Wong Riff, Karen; Pusic, Andrea; Versnel, Sarah; Koudstaal, Maarten; Allori, Alexander C.; Rogers-Vizena, Carolyn; Swan, Marc C.; Furniss, Dominic and Rodrigues, Jeremy
Publication Date: 2023
Journal: Journal of Medical Internet Research 25, pp. e41870

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.
Authors:
 McWilliams, Danielle; Costa, Bruna; Blighe, Sabrina; Swan, Marc C.; Hotton, Matthew; Hudson, Nichola and Stock, Nicola Marie
Publication Date: 2023
Journal: Cleft Palate-Craniofacial Journal 60(5), pp. 551–561

The restorative dentistry management of adult cleft patients: ‘the adult returner’.
Authors:
 Popat, Sandip and Critchlow, Simon
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 906–911

The role of the clinical psychologist within a cleft service.
Authors:
 Hotton M.; Cropper J.; Rundle J. and Crawford, R.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 887–891

The role of primary surgery in the management of orofacial clefting.
Authors:
 Martin, Serena V.; Van Eeden, Simon and Swan, Marc C.
Publication Date: 2023
Journal: British Dental Journal 234(12), pp. 859–866

The Use of Printed Radiographs to Document Dental Extractions for Alveolar Bone Graft Patients.
Item Type: 
Conference Proceeding
Authors: Gkorila A., Langford M., Bussell M. and Fallico, N.
Publication Date: 2023
Publication Details: British Journal of Surgery. Conference: ASiT Surgical Conference 2023. Liverpool United Kingdom. 110(Supplement 7) (pp vii119-vii120); Oxford University Press

The Utility of Foetal MRI to Detect Cleft Palate – A Ten Year Review.
Item Type: 
Conference Proceeding
Authors: Martin S., Sibley J., Sheerin F. and Swan, M.
Publication Date: 2023
Publication Details: Cleft Palate Craniofacial Journal. Conference: 80th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2023. Raleigh, NC United States. 60(5 Supplement) (pp 129); SAGE Publications Ltd

Timing of Primary Surgery for Cleft Palate.
Authors:
 Gamble, Carrol… Phippen, Ginette …et al.
Publication Date: August 31 ,2023
Journal: New England Journal of Medicine 389(9), pp. 795–807

Transitioning from child to adult cleft lip and palate services in the United Kingdom: Are the NICE Guidelines reflected in young adults’ experiences?
Authors:
 Mcwilliams D.; Thornton M.; Hotton M.; Swan M.C. and Stock, N. M.
Publication Date: 2023
Journal: Psychology, Health & Medicine 28(8), pp. 2032–2044

Use of self-inflating tissue expanders in equine surgery: A prospective study of 20 cases.
Authors:
 Cullen M.; Mair T.; Brennan M.; Hennessy S.; Tessier C.; Crawford A.; Swan M.C. and Archer, D.
Publication Date: 2023
Journal: Equine Veterinary Education 35(9), pp. 469–477

2022

Analysis of exome data of a nationally identified cohort of 603 patients with syndromic orofacial clefting.
Item Type: 
Conference Proceeding
Authors: Wilson K., Newbury D. and Kini, U.
Publication Date: 2022
Publication Details: European Journal of Human Genetics. Conference: 54th European Society of Human Genetics Conference, ESHG 2021. Virtual. 30(SUPPL 1) (pp 365-366); Springer Nature

A novel genotype-phenotype relationship in neonatal-onset CAD deficiency: A case report.
Item Type: 
Conference Proceeding
Authors: Kratschmer P., Lee C.X., Kini U., Sasaki E., Guegan K., Pritchard N., Hughes S., Jayawant S., Ramdas S., Rattihalli R., McCrea N., Sa M., Mollett A., Romsauerova A., Maunsell Z., Kodagali S., Khalid U., Yule E. and Smith, M.R.
Publication Date: 2022
Publication Details: Developmental Medicine and Child Neurology. Conference: Annual Meeting of the British Paediatric Neurology Association. Virtual. 64(SUPPL 1) (pp 60); Blackwell Publishing Ltd

A randomised placebo-controlled clinical trial on the efficacy of local lidocaine injections and oral citalopram for the treatment of complex regional pain syndrome.
Authors:
 Fallico N.; Padmanabhan R.; Rahman S.; Somma F. and Spagnoli, A. M.
Publication Date: 2022
Journal: Journal of Plastic, Reconstructive and Aesthetic Surgery 75(3), pp. 970–979

Beyond founder and truncting variants in TECPR2- associated disorder.
Item Type: 
Conference Proceeding
Authors: Neuser S.… Kini U. …et al.
Publication Date: 2022
Publication Details: European Journal of Human Genetics. Conference: 54th European Society of Human Genetics Conference, ESHG 2021. Virtual. 30(SUPPL 1) (pp 254-255); Springer Nature

Cantu Syndrome; another Differential Diagnosis for Mucopolysaccharidosis Phenotype – a Case Study.
Item Type: 
Conference Proceeding
Authors: Jayasundara R.J.M.K.A., Kini U. and Anand, G.
Publication Date: 2022
Publication Details: Archives of Disease in Childhood. Conference: Royal College of Paediatrics and Child Health Conference, RCPCH 2022. Liverpool United Kingdom. 107(Supplement 2) (pp A202); BMJ Publishing Group

Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Authors:
 Care, Helen; Luscombe, Carrie; Wall, Steven A.; Dalton, Louise; Johnson, David and Wilkie, Andrew O. M.
Publication Date: Sep 01 ,2022
Journal: Journal of Craniofacial Surgery 33(6), pp. 1847–1852

Decision making regarding management of compromised first permanent molars in patients with molar incisor hypomineralisation: A comparison of orthodontists and paediatric dentists.
Authors:
 Alkadhimi, Aslam; Cunningham, Susan J.; Parekh, Susan; Noar, Joe H. and Travess, Helen C.
Publication Date: Mar ,2022
Journal: Journal of Orthodontics 49(1), pp. 7–16

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Authors:
 Gregor A…. Kini U. …et al.
Publication Date: 2022
Journal: Human Molecular Genetics 31(3), pp. 440–454

Endoscope-assisted Surgical Removal of an Ectopic Wisdom Tooth Below Lower Border of the Mandible – A Case Report.
Authors:
 Taylor, Hazel; Alsabbagh, Aghiad Yassin and Downie, Ian
Publication Date: 2022
Journal: Annals of Maxillofacial Surgery 12(1), pp. 117–120

Facilitating person-centered care in cleft lip and/ or palate: the validation, deployment, and clinical experience of the CLEFT-Q Computerized Adaptive Test.
Item Type: 
Conference Proceeding
Authors: Harrison C., Apon I., Ardouin K., Sidey-Gibbons C., Klassen A., Cano S., Riff K.W., Pusic A., Versnel S., Koudstaal M., Allori A., Rogers-Vizena C., Swan M., Furniss D. and Rodrigues, J.
Publication Date: 2022
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 79th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2022. Fort Worth, TX United States. 59(4 SUPPL) (pp 102); SAGE Publications Ltd

Facilitators and barriers to delivering an optimal specialist service: an example from cleft lip and/or palate care.
Authors:
 Stock N.M.; Zucchelli F.; Hammond V.; Hudson N. and Sell, D.
Publication Date: 2022
Journal: British Journal of Health Care Management 28(8) (pagination), pp. Date of Publication: 02 Aug 2022

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.
Authors:
 Kilcoyne S.; Luscombe C.; Scully P.; Overton S.; Brockbank S.; Swan M.C.; Johnson D.; Wall S. and Wilkie, A. O. M.
Publication Date: 2022
Journal: The Journal of Craniofacial Surgery 33(1), pp. 243–250

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Authors:
 de Boer, Elke… Kini, Usha …et al.
Publication Date: 2022
Journal: Genetics in Medicine 24(10), pp. 2051–2064

Objective and subjective evaluation of Velopharyngeal Dysfunction (VPD) following surgical repair of the cleft palate using the furlow palatoplasty – A new tool.
Authors:
 Rizzo, M. I.; Fallico, N.; Beneduce, N.; Ruoppolo, G.; Ciofalo, A.; Vagnoni, S.; Palmieri, A.; De Virgilio, A.; Greco, A. and Zama, M.
Publication Date: 2022
Journal: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 75(9), pp. 3448–3456

Peer Assessment Rating (PAR) scoring of cleft patients treated within a regional cleft centre in the United Kingdom.
Authors:
 Furness, Claire; Veeroo, Helen; Kidner, Giles and Cobourne, Martyn T.
Publication Date: Mar ,2022
Journal: Journal of Orthodontics 49(1), pp. 17–23

PIGG variant pathogenicity assessment reveals novel features within nineteen families.
Item Type: 
Conference Proceeding
Authors: Tremblay-Laganiere C…. Kini U. …et al.
Publication Date: 2022
Publication Details: European Journal of Human Genetics. Conference: 54th European Society of Human Genetics Conference, ESHG 2021. Virtual. 30(SUPPL 1) (pp 274); Springer Nature

Response to Barriers and Facilitators to the International Implementation of Standardized Outcome Measures in Clinical Cleft Practice.
Authors:
 Harrison, Conrad J.; Rodrigues, Jeremy N.; Furniss, Dominic and Swan, Marc C.
Publication Date: 2022
Journal: Cleft Palate-Craniofacial Journal 59(5), pp. 669–670

Staff support during COVID-19 within an Acute Hospital Trust.
Authors:
 Blighe S.; Hotton M.; Quarmby L.; Pollard T.; Neilan N.; Scholcz A.; Pinckston M. and Samuel, R.
Publication Date: 2022
Journal: Occupational Medicine (Oxford, England) 72(5), pp. 298–304

Study protocol for the management of impacted maxillary central incisors: a multicentre randomised clinical trial: the iMAC Trial.
Authors:
 Seehra, Jadbinder; DiBiase, Andrew T.; Patel, Shruti; Stephens, Rachel; Littlewood, Simon J.; Spencer, Richard J.; Frawley, Tom; Benson, Philip E.; Ireland, Anthony J.; Parvizi, Farnaz; Atack, Nikki; Kidner, Giles; Wojewodka, Gabriella; Ward, Christopher; Papageorgiou, Spyridon N.; Newton, Jonathon T. and Cobourne, Martyn T.
Publication Date: Sep 16 ,2022
Journal: Trials 23(1), pp. 787

Surgical Performance Anxiety and Wellbeing Among Surgeons: A Cross-sectional Study in the United Kingdom.
Authors:
 Miller, Robert; Hotton, Matthew; Williamon, Aaron; Kneebone, Roger; Goodacre, Tim; O’Leary, Denis and Chan, James K. K.
Publication Date: 2022
Journal: Annals of Surgery 275(4), pp. 632–639

The appropriateness of urgent ‘2 week wait’ suspected malignancy referrals to oral and maxillofacial surgery.
Authors:
 Blackhall K.K.; Alsabbagh A.; Singh R.P. and Downie, I. P.
Publication Date: 2022
Journal: Advances in Oral and Maxillofacial Surgery 7(pagination), pp. Article Number: 100311. Date of Publication: 01 Jul 2022

The impact of COVID-19 on cleft services in Great Britain & Northern Ireland.
Authors:
 Arnaout, Ali; Martin, Serena; Hill, Chris; Hodgkinson, Peter; Thorburn, Guy; O’Neill, Tomas B.; Moar, Kanwalraj; Treharne, Linda; Hall, Per and Miyagi, Kana
Publication Date: 2022
Journal: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 75(5), pp. 1689–1695

The Throat Pack Debate: A Review of Current Practice in UK and Ireland Cleft Centers.
Authors:
 Curran, Terry-Ann; Narayan, Nitisha; Fenner, Lynn; Thornburn, Guy; Swan, Marc C. and Fallico, Nefer
Publication Date: 2022
Journal: Cleft Palate-Craniofacial Journal 59(2), pp. 185–191

Traumatic acquired oronasal palatal fistula in an adult patient with an undiagnosed submucous cleft palate.
Authors: See I.J.L., Martin S., Thorburn T.G. and Swan M.C.
Publication Date: 2022
Journal: Irish Medical Journal 115 (10): 700-703.

2021

A prospective study to examine responsiveness of the cleft-q scales following three cleft-specific operations.
Item Type: 
Conference Proceeding
Authors: Miroshnychenko A., Rae C., Wong Riff K., Forrest C., Goodacre T., Swan M., Goldstein J., Thoma A., Harman K. and Klassen, A.
Publication Date: 2021
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 78th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2021. Virtual. 58(4 SUPPL) (pp 111); SAGE Publications Ltd

A Simple Training Method to Practice Cleft Lip and Palate Markings for Trainee Surgeons.
Authors:
Padmanabhan R.; Rahman S. and Fallico, N.
Publication Date: 2021
Journal: Cleft Palate-Craniofacial Journal 58(10), pp. 1335–1336

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Authors:
Neuser, Sonja… Kini, Usha …et al.
Publication Date: 2021
Journal: Human Mutation 42(6), pp. 762–776

Comparison of provision of maxillofacial emergency service during the two COVID-19 national lockdowns in the United Kingdom.
Authors:
Blackhall, K. K.; Downie, I. P.; Walsh, S.; Burhan, R.; Ramchandani, P.; Kusanale, A.; Srinivasan, B.; Brennan, P. A. and Singh, R. P.
Publication Date: 2021
Journal: British Journal of Oral & Maxillofacial Surgery 59(6), pp. 716–719

Deeper Understanding of Appearance in Orofacial Clefts: A Structural Equation Model of the CLEFT-Q Appearance Scales.
Authors:
Harrison, Conrad J.; Sidey-Gibbons, Chris J.; Klassen, Anne F.; Wong Riff, Karen W. Y.; Furniss, Dominic; Swan, Marc C. and Rodrigues, Jeremy N.
Publication Date: Sep ,2021
Journal: Plastic and Reconstructive Surgery – Global Open 9(9), pp. e3806

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Authors:
Schirwani, Schaida… Kini, Usha …et al.
Pierson, Tyler Mark; Balasubramanian, Meena
Publication Date: 2021
Journal: American Journal of Medical Genetics.Part A 185(11), pp. 3446–3458

FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions.
Authors:
Klassen, Anne F.; Rae, Charlene; Wong Riff, Karen Wy; Bulstrode, Neil ;Denadai, Rafael; Goldstein, Jesse; Hol, Marinka Lf; Murray, Dylan J.; Bracken, Shirley; Courtemanche, Douglas J.; O’Hara, Justine; Butler, Daniel; Tassi, Ali; Malic, Claudia C.; Ganske, Ingrid M.; Phua, Yun S.; Marucci, Damian D.; Johnson, David; Swan, Marc C.; Breuning, Eleonore E., Goodacre, Tim EE;  Pusic, Andrea L.; Cano, Stefan;
Publication Date: Sep ,2021
Journal: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 74(9), pp. 2319–2329

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.
Authors:
Kilcoyne S.; Potter K.R.; Gordon Z.; Overton S.; Brockbank S.; Jayamohan J.; Magdum S.; Smith M.; Johnson D.; Wall S. and Wilkie, A. O. M.
Publication Date: 2021
Journal: The Journal of Craniofacial Surgery 32(1), pp. 134–140

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Authors:
Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B.; Gunning, Adam C.; Ezer, Shlomit; Lee, Sukyeong; Duraine, Lita; Wilichowski, Ekkehard; Wilson, Kate; Mayr, Johannes A.; Wagner, Matias; Li, Hong; Kini, Usha; Black, Emily Davis; Monaghan, Kristin G.; Lupski, James R.; Ellard, Sian; Westphal, Dominik S.; Harel, Tamar and Yoon, Wan Hee
Publication Date: 2021
Journal: Genome Medicine 13(1), pp. 55

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Authors:Chopra, Maya… Kini, Usha …et al.
Publication Date: 2021
Journal: American Journal of Human Genetics 108(6), pp. 1138–1150

Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism
Item Type: 
Conference Proceeding
Authors: Chopra M., McEntagart M…. Kini U. …et al.
Publication Date: 2021
Publication Details: Molecular Genetics and Metabolism. Conference: 2021 ACMG Annual Clinical Genetics Meeting. Virtual, Online. 132(Supplement 1) (pp S99); Academic Press Inc.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Authors:
Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C.; Rice, Sarah J.; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen and Sayer, John A.
Publication Date: 2021
Journal: Brain Communications 3(3), pp. fcab163

Identification of novel molecular pathways in syndromic orofacial clefting.
Item Type: 
Conference Proceeding
Authors: Wilson K., Newbury D. and Kini, U.
Publication Date: 2021
Publication Details: Twin Research and Human Genetics. Conference: 44th Human Genetics Society of Australasia Annual Scientific Meeting. Adelaide, SA Australia. 24(5) (pp 290); Cambridge University Press

Interpersonal Relationship Experiences in Adults Born With Cleft Lip and/or Palate: A Whole of Life Survey in the United Kingdom.
Authors:
Ardouin, Kenny; Hotton, Matt and Stock, Nicola Marie
Publication Date: 2021
Journal: Cleft Palate-Craniofacial Journal 58(11), pp. 1412–1421

Lockdown lessons: The virtual cleft multidisciplinary clinic.
Authors:
Armstrong, A. C. G.; Sibley, J.; Phippen, G.; Popat, S.; Pal, R.; Kini, U.; Hotton, M.; Kidner, G.; Thorburn, T. G. and Swan, M. C.
Publication Date: 2021
Journal: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 74(8), pp. 1931–1971

Machine learning versus computerized adaptive testing for short, accurate and personalized patient- reported health assessment in cleft lip and/or palate.
Item Type: 
Conference Proceeding
Authors: Harrison C., Sidey-Gibbons C., Klassen A., Riff K.W., Furniss D., Swan M. and Rodrigues, J.
Publication Date: 2021
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 78th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2021. Virtual. 58(4 SUPPL) (pp 72-73); SAGE Publications Ltd

Making the case for the collection of a minimal dataset for children with speech sound disorder.
Authors:
Morgan, Lydia; Overton, Sarah; Bates, Sally; Titterington, Jill and Wren, Yvonne
Publication Date: 2021
Journal: International Journal of Language & Communication Disorders 56(5), pp. 1097–1107

Measuring patient-reported appearance in orofacial clefts: A structural equation model of the cleft-q appearance subscales.
Item Type: 
Conference Proceeding
Authors: Harrison C., Sidey-Gibbons C., Klassen A., Riff K., Furniss D., Swan M. and Rodrigues, J.
Publication Date: 2021
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 78th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2021. Virtual. 58(4 SUPPL) (pp 73); SAGE Publications Ltd

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Authors:
den Hoed, Joery… Kini, Usha …et al.
Publication Date: 2021
Journal: American Journal of Human Genetics 108(2), pp. 346–356

Optimising the computerised adaptive test to reliably reduce the burden of administering the CLEFT-Q: A Monte Carlo simulation study.
Authors:
Harrison, Conrad J.; Rodrigues, Jeremy N.; Furniss, Dominic; Swan, Marc C.; Klassen, Anne F.; Wong Riff, Karen W. Y. and Sidey-Gibbons, Chris J.
Publication Date: 2021
Journal: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 74(6), pp. 1355–1401

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Authors:
Tremblay-Laganiere, C.… Kini, Usha …et al.
Publication Date: 2021
Journal: Genetics in Medicine 23(10), pp. 1873–1881

Psychometric validation of the cleft-q patient reported outcome measure: A prospective study to examine cross-sectional construct validity.
Item Type: Conference Proceeding
Authors: Miroshnychenko A., Rae C., Riff K.W., Forrest C., Goodacre T., Swan M., Goldstein J., Thoma A., Harman K. and Klassen, A.
Publication Date: 2021
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 78th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2021. Virtual. 58(4 SUPPL) (pp 107); SAGE Publications Ltd

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Authors:
Johannesen, Katrine M…. Kini, Usha …et al.
Publication Date: December ,2021
Journal: Neurology Genetics 7(6), pp. e613

Recursive Partitioning vs Computerized Adaptive Testing to Reduce the Burden of Health Assessments in Cleft Lip and/or Palate: Comparative Simulation Study.
Authors:
Harrison, Conrad J.; Sidey-Gibbons, Chris J.; Klassen, Anne F.; Wong Riff, Karen W. Y.; Furniss, Dominic; Swan, Marc C. and Rodrigues, Jeremy N.
Publication Date: 2021
Journal: Journal of Medical Internet Research 23(7), pp. e26412

The contribution of X-linked coding variation to severe developmental disorders.
Authors:
Martin H.C…. Kini U. …et al.
Publication Date: 2021
Journal: Nature Communications 12(1) (pagination), pp. Article Number: 627. Date of Publication: 01 Dec 2021

The Sensitivity and Specificity of Parental Report of Concern for Identifying Language Disorder in Children With Craniosynostosis.
Authors:Kilcoyne, Sarah; Rajan, Sindhu Menon; Dalton, Louise; Judge, Andy; Overton, Sarah; Wall, Steven and Johnson, David
Publication Date: 2021
Journal: Journal of Craniofacial Surgery 32(1), pp. 36–41

Treatment Experiences in Adults Born With Cleft Lip and/or Palate: A Whole of Life Survey in the United Kingdom.
Authors:
Ardouin, Kenny; Drake, David; Popat, Sandip and Stock, Nicola Marie
Publication Date: 2021
Journal: Cleft Palate-Craniofacial Journal 58(7), pp. 864–871

Validation of cleft-q scales for use in children and young adults with facial conditions: Face-q craniofacial module.
Item Type: 
Conference Proceeding
Authors: Klassen A., Rae C., Riff K.W., Bulstrode N., Denadai R., Goldstein J., Hol M., Murray D., Bracken S., Courtemanche D., Butler D., Tassi A., Malic C., Ganske I., Phua Y., Johnson D., Swan M., Breuning E., Goodacre T., Pusic A. and Cano, S.
Publication Date: 2021
Publication Details: Cleft Palate-Craniofacial Journal. Conference: 78th Annual Meeting of the American Cleft Palate-Craniofacial Association, ACPA 2021. Virtual. 58(4 SUPPL) (pp 75); SAGE Publications Ltd

Velopharyngeal Incompetence in Children With 22q11.2 Deletion Syndrome: Velar and Pharyngeal Dimensions.
Authors:
Seselgyte, Rimante; Swan, Marc C.; Birch, Malcolm J. and Kangesu, Loshan
Publication Date: 2021
Journal: Journal of Craniofacial Surgery 32(2), pp. 578–580

2020

A Cadaveric Study of the Buccal Fat Pad: Implications for Closure of Palatal Fistulae and Donor-Site Morbidity.
Authors:Echlin, Kezia; Whitehouse, Harry; Schwaiger, Michael; Nicholas, Rebecca; Fallico, Nefer and Atherton, Duncan D.
Publication Date: 2020
Journal: Plastic & Reconstructive Surgery 146(6), pp. 1331–1339

A simple but effective way to protect the oral commissures during cleft surgery.
Authors:
Fallico N.; Rahman S.; Ferguson L.; Atherton D. and Timoney, N.
Publication Date: 2020
Journal: Journal of Plastic, Reconstructive and Aesthetic Surgery 73(10), pp. 1897–1916

Consent in the time of COVID-19.
Authors:
Turnham H.L.; Dunn M.; Hill E.; Thornburn G.T. and Wilkinson, D.
Publication Date: 2020
Journal: Journal of Medical Ethics 46(9), pp. 565–568

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Authors:
Cappuccio, Gerarda Sayou… Kini, Usha …et al.
Publication Date: 2020
Journal: Genetics in Medicine 22(11), pp. 1838–1850

Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Authors:
Kaplanis J…. Kini U. …et al.
Publication Date: 2020
Journal: Nature 586(7831), pp. 757–762

Foreign body surgery in the inferior alveolar nerve canal following endodontic treatment.
Authors:Blackhall K.K.; Khoo Y. and Downie, I. P.
Publication Date: 2020
Journal: Dental Update 47(11), pp. 935–938

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Authors:
Shieh, Christine… Kini, Usha …et al.
Publication Date: 2020
Journal: Genetics in Medicine 22(5), pp. 878–888

Impact of Completing CLEFT-Q Scales That Ask About Appearance on Children and Young Adults: An International Study.
Authors:
Klassen, Anne F.; Dalton, Louise; Goodacre, Timothy E. E.; Harman, Karen E.; Slator, Rona; Tsangaris, Elena; Courtemanche, Douglas J.; Goldstein, Jesse; Allen, Gregory C.; Mahony, Aisling O. and Riff, Karen W. Y. Wong
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(7), pp. 840–848

Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder.
Item Type: Conference Proceeding
Authors: Den Hoed J…. Kini U. …et al.
Publication Date: 2020
Publication Details: European Journal of Human Genetics. Conference: 53rd European Society of Human Genetics Conference, ESHG. Virtual. 28(SUPPL 1) (pp 32-33); Springer Nature

Parental Judgement of Hearing Loss in Infants With Cleft Palate.
Authors:
McAndrew, Lucy
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(7), pp. 886–894

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling.
Authors:
Johnson, Brett V…. Kini, Usha …et al.
Publication Date: 2020
Journal: Biological Psychiatry 87(2), pp. 100–112

Promoting Psychosocial Adjustment in Individuals Born With Cleft Lip and/or Palate and Their Families: Current Clinical Practice in the United Kingdom.
Authors:
Stock, Nicola Marie; Zucchelli, Fabio; Hudson, Nichola; Kiff, James D. and Hammond, Vanessa
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(2), pp. 186–197

Provision of Emergency Maxillofacial Service During the COVID-19 Pandemic: A Collaborative Five Centre UK Study.
Authors:
Blackhall, K. K.; Downie, I. P.; Ramchandani, P.; Kusanale, A.; Walsh, S.; Srinivasan, B.; Shields, H.; Brennan, P. A. and Singh, R. P.
Publication Date: 2020
Journal: British Journal of Oral & Maxillofacial Surgery 58(6), pp. 698–703

Response to Achieving Consensus in the Measurement of Psychological Adjustment to Cleft Lip and/or Palate at Age 8+ Years.
Authors:Harrison, Conrad J.; Dalton, Louise; Goodacre, Timothy E. E. and Swan, Marc C.
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(11), pp. 1340–1341

Rolling out Whole Exome and Whole Genome Sequencing to mainstream services. the experience of the Oxford Centre for Genomic Medicine.
Item Type: 
Conference Proceeding
Authors: Stewart H., Blair E., Campbell C., Craft J., Kini U. and Lowndes, J.
Publication Date: 2020
Publication Details: European Journal of Human Genetics. Conference: 53rd European Society of Human Genetics Conference, ESHG. Virtual. 28(SUPPL 1) (pp 769); Springer Nature

The Psychosocial Adjustment of Children Born With a Cleft Lip and/or Palate: Cross-Sectional and Longitudinal Analyses.
Authors:
Pinckston, Molly; Dalton, Louise; Farrar, Stephanie and Hotton, Matthew T.
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(11), pp. 1280–1290

Service evaluation of referrals to secondary care: A question of complexity?
Authors:
Veeroo, Helen J. and Travess, Helen C.
Publication Date: 2020
Journal: Journal of Orthodontics 47(3), pp. 232–239

Use of Preoperative Cervical Vascular Imaging in Patients With Velocardiofacial Syndrome and Velopharyngeal Dysfunction in the United Kingdom.
Authors:
 Fallico, Nefer; Timoney, Norma and Atherton, Duncan
Publication Date: 2020
Journal: Cleft Palate-Craniofacial Journal 57(6), pp. 694–699

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