Staff Profile

Introduction

I am a Paediatric Neurodisability clinical academic undertaking translational research that aims to improve health and quality of life. My research starts with investigating the biological basis of neurodevelopmental conditions and identifying people's clinical conditions from across the lifespan. I then apply that new knowledge and carry out clinical trials and intervention studies to reduce the effects of disability, and improve health and quality of life. I am also involved in using new knowledge to change health services - making services better for people with neurodevelopmental conditions, and professionals.

My clinical work is for two local NHS Trusts. 1. Newcastle Upon Tyne Hospitals NHS Foundation Trust at the Great North Children's Hospital in the Regional Neurodisability service (Regional Dysphagia/Feeding clinic) and 2.  Northumberland Tyne and Wear NHS Foundation Trust in the Regional Autism Spectrum Disorder diagnosis, management and intervention service, where I lead multidisciplinary assessments of children with ASD (the Complex Neurodevelopmental Disorders Service).

Qualifications 

MB ChB (1996)

MD (Broader Autism Phenotype, 2007)

CCT in Paediatric Neurodisability, and Paediatrics (2007) 

National committee roles

Member of the Executive Committee of the British Academy of Childhood Disability (2007-present)

Chair of the British Academy of Childhood Disability Strategic Research Group (2012-present)

Trustee, The Castang Foundation: http://castangfoundation.org.uk/ (2014-present)

Chair, Autistica Physical health and ageing study group (2018-present)

Member of the British Paediatric Neurology Association research committee (2013-present)

Member, the NIHR Medicines for Children Research Network Neurosciences Clinical Study Group (2013-present)

Previous national committee roles and Positions

Co-Chair of the Research Autism Scientific Advisory Committee (2012-2017)

Expert adviser to The National Autism Project (2015-17)

Organising Committee member (lead for exhibition and sponsorship) and Scientific Committee member, The 25th European Academy of Childhood Disability (EACD) meeting, Newcastle-Gateshead, The Sage, October 2013

Nov 2006 – May 2009 Consultant and Honorary Senior Lecturer, Paediatric Neurodisability, Great Ormond Street Hospital and the Institute of Child Health, London

Sept 2008 – May 2009 Senior Academic Research Fellow and Honorary Consultant Paediatrician University of Oxford and Oxford Children’s Hospital

Clinical Trials and other intervention studies

I led the The Drooling Reduction Intervention Trial (DRI), a 15 site multicentre trial of the effectiveness of Glycopyrronium vs Hyoscine to treat drooling in children with neurodisability. The results of the study can be found here:  https://adc.bmj.com/content/archdischild/103/4/371.full.pdf.  The study results have been used by organisations to support licences for new medications to treat drooling

I lead a programme of research focused on Virtual Reality Treatment for children and adults with autism and specific phobia: The results of our NIHR funded research can be found at: https://www.ncl.ac.uk/press/articles/latest/2019/02/blueroomforovercomingphobiasinautism/

Together with Chief Investigator Professor Peter Sullivan (University of Oxford), I lead The Dolphin Nutritional Intervention Trials. These trials investigated the feasibility and effects of nutritional supplementation of babies with or at risk disability or at risk of disability. Follow up studies of the 100 children recruited are underway. Results from the trials can be found here:
https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.13914 and at: https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.13586

I am part of the PACT consortium (Chief Investigator Professor Jonathan Green, University of Manchester). I was part of the team that was funded by the MRC and identified the long term improvements from the PACT therapy for young children with autism. The results can be found here: http://research.bmh.manchester.ac.uk/pact/

I lead the Personalised Anxiety Trial for autistic adults (PATA) that has recruited autistic adults around Newcastle: https://research.ncl.ac.uk/neurodisability/ourstudies/pat-a/

I co lead two studies focusing on interventions to improve physical health for autistic adults:

1. https://research.ncl.ac.uk/neurodisability/ourstudies/improvingthehealthofolderautisticpeople/

2. Design and trial of health checks for autistic adults

Together with colleagues nationally and internationally, I am part of research teams delivering a number of other clinical trials:

The research team at Newcastle University are delivering the CUES study, which focuses on Intolerance of Uncertainty (CI Jacqui Rodgers): https://research.ncl.ac.uk/neurodisability/ourstudies/copingwithuncertaintyandasd/

The PACT consortium are involved in PACT-G, which investigates the effects of the PACT therapy on primary school age children. Further information can be found here: http://research.bmh.manchester.ac.uk/pactg/AboutPACT-G/

Guided self help autistic adults with depression: https://bmjopen.bmj.com/content/bmjopen/7/12/e019545.full.pdf

I am part of a large international consortium focused on clinical trials of medications for people on the autism spectrum. Arbacofen for children on the autism spectrum: https://www.aims-2-trials.eu/

Prophylactic antibiotics to prevent chest infections for children with Neurodisability (CI: McNamara, University of Liverpool)

Preparing for future clinical trials:

I lead the NIHR funded FEEDS project that aims to identify the interventions, outcomes and measures that could be used in future clinical trials: https://research.ncl.ac.uk/neurodisability/ourstudies/feedsreview/

I was a member of the NIHR funded MeASURe group who have published a systematic review of measurement tools used to measure progress and outcome in young children in ASD: https://njl-admin.nihr.ac.uk/document/download/2003030

I was a member of the NIHR funded Standing Frames research group who aimed to identify whether there should be clinical trials of standing frame use for children with cerebral palsy: https://njl-admin.nihr.ac.uk/document/download/2021305

Autism Spectrum Database-UK/Daslne

I lead the Autism Spectrum Database-UK, which is a database of families of children with ASD, who have shown interest in participating in research. The database has two main aims: 1. To increase families access to research; and 2. To increase the number of families available to be recruited to researchers studies, resulting in improved research capacity. ASD-UK has been funded by the UK autism charity Autistica since 2010. In 2019, Newcastle University and Autistica ageed to work in formal partnership to increase the number of research opportunities for children and families, autistic adults and their relatives.

More than 5000 families have now joined the research databases. Information for families and researchers can be found at http://www.asd-uk.com/. Further information can be found at: http://bmjopen.bmj.com/content/5/9/e008625.full.pdf html

Autism Spectrum Lifecourse: Adulthood and Ageing

I lead a programme of research about the Autism Spectrum in adulthood and older age. The programme includes a national longitudinal cohort study focused on the lives of more than 2000 autistic adults and 1000 relatives of autistic people. See https://research.ncl.ac.uk/adultautismspectrum/ for more information about the cohort study. Information about other projects in the programme can be found at: https://research.ncl.ac.uk/adultautismspectrum/cohortprojects/

Autism Genetics

My autism genetics interests relate to how genes thought to be important in the development of autism spectrum disorder relate to people's everyday characteristics, and the clinical use of genetic testing for people on the autism spectrum - with a focus on how genetic information can help improve autistic people's health, and mental health

Since 2011, I have led the International Molecular Genetic Study of Autism Consortium (IMGSAC). Data and family DNA are stored housed in Newcastle. I lead IMGSACs role in:

The Autism Genome Project Consortium, a consortium of researchers from Europe and North America

UK10k, a consortium of international researchers focused on how genes affect health

The Psychiatric Genetics Consortium, an international consortium focused on how genes affect mental health - for example anxiety and depression

Research focused on health services

I am part of the Newcastle led, multisite Research Programme regarding 'Transition': How can health services contribute most effectively to facilitating successful transition of young people with complex health needs from childhood to adulthood?

I lead a project focused on investigating the methoids and measures used to diagnose autism in UK adults. More information can be found at: https://research.ncl.ac.uk/neurodisability/ourstudies/methodsofdiagnosisforascinadults/

• Maskey M, Rodgers J, Grahame V, Glod M, Honey E, Kinnear J, Labus M, Milne J, Minos D, McConachie H, Parr JR. A randomised controlled feasibility trial of immersive virtual reality treatment with cognitive behaviour therapy for specific phobias in young people with autism spectrum disord5er. Journal of Autism and Developmental Disorders 2019, 49(5), 1912-1927.
• Maskey M, McConachie H, Rodgers J, Grahame V, Maxwell J, Tavernor L, Parr JR. An intervention for fears and phobias in young people with autism spectrum disorders using flat screen computer-delivered virtual reality and cognitive behaviour therapy. Research in Autism Spectrum Disorders 2019, 59, 58-67.
• Colver A, Rapley T, Parr JR, McConachie H, Dovey-Pearce G, Le Couteur A, McDonagh JE, Bennett C, Hislop J, Maniatopoulos G, Mann KD, Merrick H, Pearce MS, Reape D, Vale L. Facilitating the transition of young people with long-term conditions through health services from childhood to adulthood: the Transition research programme. Programme Grants for Applied Research 2019, 7(4).
• Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ, Turki SA, Anderson CA, Anney R, Antony D, Artigas MS, Ayub M, Bala S, Barrett JC, Barroso I, Beales P, Bentham J, Bhattacharya S, Birney E, Blackwood D, Bobrow M, Bochukova E, Bolton PF, Bounds R, Boustred C, Breen G, Calissano M, Carss K, Charlton R, Chatterjee K, Chen L, Ciampi A, Cirak S, Clapham P, Clement G, Coates G, Cocca M, Collier DA, Cosgrove C, Cox T, Craddock N, Crooks L, Curran S, Curtis D, Daly A, Danecek P, Day INM, Day-Williams A, Dominiczak A, Down T, Du Y, Dunham I, Durbin R, Edkins S, Ekong R, Ellis P, Evans DM, Farooqi IS, Fitzpatrick DR, Flicek P, Floyd J, Foley AR, Franklin CS, Futema M, Gallagher L, Gaunt TR, Geihs M, Geschwind D, Greenwood CMT, Griffin H, Grozeva D, Guo X, Guo X, Gurling H, Hart D, Hendricks AE, Holmans P, Howie B, Huang J, Huang L, Hubbard T, Humphries SE, Hurles ME, Hysi P, Jackson DK, Jamshidi Y, Joyce C, Karczewski KJ, Kaye J, Keane T, Kemp JP, Kennedy K, Kent A, Keogh J, Khawaja F, van Kogelenberg M, Kolb-Kokocinski A, Lachance G, Langford C, Lawson D, Lee I, Lek M, Li R, Li Y, Liang J, Lin H, Liu R, Lonnqvist J, Lopes LR, Lopes M, MacArthur DG, Mangino M, Marchini J, Marenne G, Maslen J, Mathieson I, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Memari Y, Metrustry S, Migone N, Mitchison HM, Moayyeri A, Morris A, Morris J, Muddyman D, Muntoni F, Northstone K, O'Donovan MC, O'Rahilly S, Onoufriadis A, Oualkacha K, Owen MJ, Palotie A, Panoutsopoulou K, Parker V, Parr JR, Paternoster L, Paunio T, Payne F, Payne SJ, Perry JRB, Pietilainen O, Plagnol V, Pollitt RC, Porteous DJ, Povey S, Quail MA, Quaye L, Raymond FL, Rehnstrom K, Richards JB, Ridout CK, Ring S, Ritchie GRS, Roberts N, Robinson RL, Savage DB, Scambler P, Schiffels S, Schmidts M, Schoenmakers N, Scott RH, Semple RK, Serra E, Sharp SI, Shaw A, Shihab HA, Shin S-Y, Skuse D, Small KS, Smee C, Smith BH, Soranzo N, Southam L, Spasic-Boskovic O, Spector TD, St Clair D, Stalker J, Stevens E, Sun J, Surdulescu G, Suvisaari J, Syrris P, Taylor R, Tian J, Tobin MD, Valdes AM, Vandersteen AM, Vijayarangakannan P, Visscher PM, Wain LV, Walters JTR, Wang G, Wang J, Wang Y, Ward K, Wheeler E, Whyte T, Williams HJ, Williamson KA, Wilson C, Wilson SG, Wong K, Xu CJ, Yang J, Zhang F, Zhang P, Zheng H-F, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bonnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications 2019, 10(1), 357.
• Mason D, Mackintosh J, McConachie H, Rodgers J, Finch T, Parr J. Quality of life for older autistic people: The impact of mental health difficulties. Research in Autism Spectrum Disorders 2019, 63, 13-22.
• Goodwin J, Lecouturier J, Smith J, Crombie S, Basu A, Parr J, Howel D, McColl E, Roberts A, Miller K, Cadwgan J. Understanding Frames: A qualitative exploration of standing frame use for young people with cerebral palsy in educational settings. Child: Care, Health and Development 2019, 45(3), 433-439.
• Maskey M, Rodgers J, Ingham B, Freeston M, Evans G, Labus M, Parr JR. Using Virtual Reality Environments to Augment Cognitive Behavioral Therapy for Fears and Phobias in Autistic Adults. Autism in Adulthood 2019, 1(2), 134-145.
• Gray S, Cheetham T, McConachie H, Mann KD, Parr JR, Pearce MS, Colver A. A longitudinal, observational study examining the relationships of patient satisfaction with services and mental wellbeing to their clinical course in young people with Type 1 diabetes mellitus during transition from child to adult health services. Diabetic Medicine 2018, 35(9), 1216-1222.
• Colver A, McConachie H, Le Couteur A, Dovey-Pearce G, Mann KD, McDonagh JE, Pearce MS, Vale L, Merrick H, Parr J. A longitudinal, observational study of the features of transitional healthcare associated with better outcomes for young people with long-term conditions. BMC Medicine 2018, 16, 111.
• Ayres M, Parr JR, Rodgers J, Mason D, Avery L, Flynn D. A systematic review of quality of life of adults on the autism spectrum. Autism 2018, 22(7), 774-783.
• Howes OD, Rogdaki M, Findon JL, Wichers RH, Charman T, King BH, Loth E, McAlonan GM, McCracken JT, Parr JR, Povey C, Santosh P, Wallace S, Simonoff E, Murphy DG. Autism spectrum disorder: Consensus guidelines on assessment, treatment and research from the British Association for Psychopharmacology. Journal of Psychopharmacology 2018, 32(1), 3-29.
• McConachie H, Mason D, Parr JR, Garland D, Wilson C, Rodgers J. Enhancing the validity of a Quality of Life measure for autistic people. Journal of Autism and Developmental Disorders 2018, 48(5), 1596-1611.
• Petrou AM, Parr JR, McConachie H. Gender differences in parent-reported age at diagnosis of children with autism spectrum disorder. Research in Autism Spectrum Disorders 2018, 50, 32-42.
• Colver A, Pearse RS, Watson RM, Fay M, Rapley T, Mann KD, Le Couteur A, Parr J, McConachie HM. How well do services for young people with long term conditions deliver features proposed to improve transition?. BMC Health Services Research 2018, 18, 337.
• Fletcher-Watson S, Adams J, Brook K, Charman T, Crane L, Cusack J, Leekam S, Milton D, Parr JR, Pellicano E. Making the future together: Shaping autism research through meaningful participation. Autism 2019, 23(4), 943-953.
• Andrew MJ, Parr JR, Montague-Johnson C, Laler K, Qi C, Baker B, Sullivan PB. Nutritional intervention and neurodevelopmental outcome in infants with suspected cerebral palsy: The Dolphin infant double-blind randomized controlled trial. Developmental Medicine and Child Neurology 2018, 60(9), 906-913.
• Andrew MJ, Parr JR, Montague-Johnson C, Laler K, Holmes J, Baker B, Sullivan PB. Nutritional intervention and neurodevelopmental outcome in newborn infants at risk of neurodevelopmental impairment: The Dolphin neonatal double-blind randomized controlled trial. Developmental Medicine and Child Neurology 2018, 60(9), 897-905.
• Green J, Aldred C, Charman T, Le Couteur A, Emsley RA, Grahame V, Howlin P, Humphrey N, Leadbitter K, McConachie H, Parr JR, Pickles A, Slonims V, Taylor C, PACT-G Group. Paediatric Autism Communication Therapy-Generalised (PACT-G) against treatment as usual for reducing symptom severity in young children with autism spectrum disorder: study protocol for a randomised controlled trial. Trials 2018, 19, 514.
• McConachie H, Livingstone N, Morris C, Beresford B, Le Couteur A, Gringras P, Garland D, Jones G, Macdonald G, Williams K, Parr JR. Parents Suggest Which Indicators of Progress and Outcomes Should be Measured in Young Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders 2018, 48(4), 1041-1051.
• Mason D, McConachie H, Garland D, Petrou A, Rodgers J, Parr JR. Predictors of quality of life for autistic adults. Autism Research 2018, 11(8), 1138-1147.
• Wigham S, Rodgers J, Berney T, Le Couteur A, Ingham B, Parr JR. Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: a systematic review. Autism: International Journal of Research and Practice 2019, 23(2), 287-305.
• Goodwin J, Lecouturier J, Basu A, Colver A, Crombie S, Smith J, Howel D, McColl E, Parr JR, Kolehmainen N, Roberts A, Miller K, Cadwgan J. Standing frames for children with cerebral palsy: a mixed-methods feasibility study. Health Technology Assessment 2018, 22(50).
• Salomone E, Leadbitter K, Aldred C, Barrett B, Byford S, Charman T, Howlin P, Green J, Le Couteur A, McConachie H, Parr JR, Pickles A, Slonims V, Cole-Fletcher R, Gammer I, Maxwell J, Tobin H, Vamvakas G. The Association Between Child and Family Characteristics and the Mental Health and Wellbeing of Caregivers of Children with Autism in Mid-Childhood. Journal of Autism and Developmental Disorders 2018, 48(4), 1189-1198.
• Leadbitter K, Aldred C, McConachie H, Le Couteur A, Kapadia D, Charman T, Macdonald W, Salomone E, Emsley R, Green J, Barrett B, Barron S, Beggs K, Blazey L, Bourne K, Byford S, Cole-Fletcher R, Collino J, Colmer R, Cutress A, Gammer I, Harrop C, Houghton T, Howlin P, Hudry K, Leach S, Maxwell J, Parr J, Pickles A, Randles S, Slonims V, Taylor C, Temple K, Tobin H, Vamvakas G, White L. The Autism Family Experience Questionnaire (AFEQ): An Ecologically-Valid, Parent-Nominated Measure of Family Experience, Quality of Life and Prioritised Outcomes for Early Intervention. Journal of Autism and Developmental Disorders 2018, 48(4), 1052-1062.
• Uljarevic M, Richdale AL, McConachie H, Hedley D, Cai RY, Merrick H, Parr JR, Le Couteur A. The Hospital Anxiety and Depression scale: Factor structure and psychometric properties in older adolescents and young adults with autism spectrum disorder. Autism Research 2018, 11(2), 258-269.
• Petrou AM, Soul A, Koshy B, McConachie H, Parr JR. The impact on the family of the co-existing conditions of children with Autism Spectrum Disorder. Autism Research 2018, 11(5), 776-787.
• Goodwin J, Lecouturier J, Crombie S, Smith J, Basu A, Colver A, Kolehmainen N, Parr JR, Howel D, McColl E, Roberts A, Miller K, Cadwgan J. Understanding frames: A qualitative study of young people's experiences of using standing frames as part of postural management for cerebral palsy. Child Care, Health and Development 2018, 44(2), 203-211.
• Goodwin J, Colver A, Basu A, Crombie S, Howel D, Parr JR, McColl E, Kolehmainen N, Roberts A, Lecouturier J, Smith J, Miller K, Cadwgan J. Understanding frames: A UK survey of parents and professionals regarding the use of standing frames for children with cerebral palsy. Child: Care, Health & Development 2018, 44(2), 195-202.
• Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. American Journal of Medical Genetics, Part A 2017, 173(5), 1287-1293.
• Parr JR. Does developmental regression in autism spectrum disorder have biological origins?. Developmental Medicine and Child Neurology 2017, 59(9), 889-889.
• Parr JR, Todhunter E, Pennington L, Stocken D, Cadwgan J, O'Hare AE, Tuffrey C, Williams J, Cole M, Colver AF. Drooling Reduction Intervention randomised trial (DRI): comparing the efficacy and acceptability of hyoscine patches and glycopyrronium liquid on drooling in children with neurodisability. Archives of of Disease in Childhood 2018, 103, 371-376.
• Hamilton J, Ingham B, McKinnon I, Parr J, Tam L, Le Couter A. Mental capacity to consent to research? Experiences of consenting adults with intellectual disabilities and/or autism to research. British Journal of Learning Disabilities 2017, 45(4), 230-237.
• Anney RJL, Ripke S, Anttila V, Grove J, Holmans P, Huang H, Klei L, Lee PH, Medland SE, Neale B, Robinson E, Weiss LA, Zwaigenbaum L, Yu TW, Wittemeyer K, Willsey AJ, Wijsman EM, Werge T, Wassink TH, Waltes R, Walsh CA, Wallace S, Vorstman JAS, Vieland VJ, Vicente AM, Vanengeland H, Tsang K, Thompson AP, Szatmari P, Svantesson O, Steinberg S, Stefansson K, Stefansson H, State MW, Soorya L, Silagadze T, Scherer SW, Schellenberg GD, Sandin S, Sanders SJ, Saemundsen E, Rouleau GA, Roge B, Roeder K, Roberts W, Reichert J, Reichenberg A, Rehnstrom K, Regan R, Poustka F, Poultney CS, Piven J, Pinto D, Pericak-Vance MA, Pejovic-Milovancevic M, Pedersen MG, Pedersen CB, Paterson AD, Parr JR, Pagnamenta AT, Oliveira G, Nurnberger JI, Nordentoft M, Murtha MT, Mouga S, Mortensen PB, Mors O, Morrow EM, Moreno-De-Luca D, Monaco AP, Minshew N, Merikangas A, McMahon WM, McGrew SG, Mattheisen M, Martsenkovsky I, Martin DM, Mane SM, Magnusson P, Magalhaes T, Maestrini E, Lowe JK, Lord C, Levitt P, Martin CL, Ledbetter DH, Leboyer M, Lecouteur AS, Ladd-Acosta C, Kolevzon A, Klauck SM, Jacob S, Iliadou B, Hultman CM, Hougaard DM, Hertz-Picciotto I, Hendren R, Hansen CSo, Haines JL, Guter SJ, Grice DE, Green JM, Green A, Goldberg AP, Gillberg C, Gilbert J, Gallagher L, Freitag CM, Fombonne E, Folstein SE, Fernandez B, Fallin MD, Ercan-Sencicek AG, Ennis S, Duque F, Duketis E, Delorme R, Derubeis S, Dejonge MV, Dawson G, Cuccaro ML, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Celestino-Soper PBS, Casey J, Cantor RM, Cafe C, Bybjerg-Grauholm J, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bolshakova N, Betancur C, Bernier R, Beaudet AL, Battaglia A, Bal VH, Baird G, Bailey AJ, Baekvad-Hansen M, Bader JS, Bacchelli E, Anagnostou E, Amaral D, Almeida J, Borglum AD, Buxbaum JD, Chakravarti A, Cook EH, Coon H, Geschwind DH, Gill M, Hallmayer J, Palotie A, Santangelo S, Sutcliffe JS, Arking DE, Devlin B, Daly MJ, Hakonarson H. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Molecular Autism 2017, 8(1), 21.
• Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Borglum AD, Smith GD, Daly MJ, Robinson EB, Parr JR, Le Couteur AS, iPSYCH-Broad Autism Group, Psychiatric Genomics Consortium Autism Group. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature Genetics 2017, 49(7), 978-985.
• Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Understanding Society Scientific Group, Korner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, EPIC-CVD Consortium, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, UK10K Consortium, Barroso I, Farooqi IS. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Scientific Reports 2017, 7, 4394.
• Nicholas DB, Hodgetts S, Zwaigenbaum L, Smith LE, Shattuck P, Parr JR, Conlon O, Germani T, Mitchell W, Sacrey L, Stothers ME. Research needs and priorities for transition and employment in autism: Considerations reflected in a “Special Interest Group” at the International Meeting for Autism Research. Autism Research 2017, 10(1), 15-24.
• Yuen RKC, Merico D, Bookman M, Howe JL, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJS, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WWL, Tsoi FJ, Wei J, Xu L, Tasse A-M, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience 2017, 20(4), 602-611.
• Rodgers J, Wigham S, McConachie H, Freeston M, Honey E, Parr JR. Development of the Anxiety Scale for Children with Autism Spectrum Disorder (ASC-ASD). Autism Research 2016, 9(11), 1205-1215.
• Brett D, Warnell F, McConachie H, Parr JR. Factors Affecting Age at ASD Diagnosis in UK: No Evidence that Diagnosis Age has Decreased Between 2004 and 2014. Journal of Autism and Developmental Disorders 2016, 46(6), 1974-1984.
• Farre A, Wood V, McDonagh JE, Parr J, Reape D, Rapley T. Health professionals’ and managers' definitions of developmentally appropriate healthcare for young people: conceptual dimensions and embedded controversies. Archives of Disease in Childhood 2016, 101(7), 628-633.
• Pickles A, LeCouteur AS, Leadbitter K, Salomone E, Cole-Fletcher R, Tobin H, Gammer I, Lowry J, Vamvakas G, Byford S, Aldred C, Slonims V, McConachie H, Howlin P, Parr JR, Charman T, Green J. Parent-mediated social communication therapy for young children with autism (PACT): long-term follow-up of a randomised controlled trial. The Lancet 2016, 388(10059), 2501-2509.
• Hislop J, Mason H, Parr JR, Vale L, Colver A. Views of Young People With Chronic Conditions on Transition From Pediatric to Adult Health Services. Journal of Adolescent Health 2016, 59(3), 345-353.
• Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, Van Reeuwijk J, Plaza J-M, Van Beersum SEC, Yap ZM, Letteboer SJF, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB, UK10K, Calissano M, Parr J, Perry J, Shin S-Y. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications 2015, 6, 7074.
• Warnell F, George B, McConachie H, Johnson M, Hardy R, Parr JR. Designing and recruiting to UK autism spectrum disorder research databases: do they include representative children with valid ASD diagnoses?. BMJ Open 2015, 5(9), e008625.
• Farre A, Wood V, Rapley T, Parr J, Reape D, McDonagh JE. Developmentally Appropriate Healthcare for Young People: A Scoping Study. Archives of Disease in Childhood 2015, 100(2), 144-151.
• Wood CL, Warnell F, Johnson M, Hames A, Pearce MS, McConachie H, Parr JR. Evidence for ASD Recurrence Rates and Reproductive Stoppage From Large UK ASD Research Family Databases. Autism Research 2015, 8(1), 73-81.
• Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng H-F, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N, Al Turki S, Amuzu A, Anderson CA, Anney R, Antony D, Artigas MS, Ayub M, Bala S, Barrett JC, Barroso I, Beales P, Benn M, Bentham J, Bhattacharya S, Birney E, Blackwood D, Bobrow M, Bochukova E, Bolton PF, Bounds R, Boustred C, Breen G, Calissano M, Carss K, Casas JP, Chambers JC, Charlton R, Chatterjee K, Chen L, Ciampi A, Cirak S, Clapham P, Clement G, Coates G, Cocca M, Collier DA, Cosgrove C, Cox T, Craddock N, Crooks L, Curran S, Curtis D, Daly A, Day INM, Day-Williams A, Dedoussis G, Down T, Du Y, Van Duijn CM, Dunham I, Edkins S, Ekong R, Ellis P, Evans DM, Farooqi IS, Fitzpatrick DR, Flicek P, Floyd J, Foley AR, Franklin CS, Futema M, Gallagher L, Gasparini P, Gaunt TR, Geihs M, Geschwind D, Greenwood C, Griffin H, Grozeva D, Guo X, Guo X, Gurling H, Hart D, Hendricks AE, Holmans P, Huang L, Hubbard T, Humphries SE, Hurles ME, Hysi P, Iotchkova V, Isaacs A, Jackson DK, Jamshidi Y, Johnson J, Joyce C, Karczewski KJ, Kaye J, Keane T, Kemp JP, Kennedy K, Kent A, Keogh J, Khawaja F, Kleber ME, Van Kogelenberg M, Kolb-Kokocinski A, Kooner JS, Lachance G, Langenberg C, Langford C, Lawson D, Lee I, Van Leeuwen EM, Lek M, Li R, Li Y, Liang J, Lin H, Liu R, Lonnqvist J, Lopes LR, Lopes M, Luan J, MacArthur DG, Mangino M, Marenne G, Marz W, Maslen J, Matchan A, Mathieson I, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Metrustry S, Migone N, Mitchison HM, Moayyeri A, Morris J, Morris R, Muddyman D, Muntoni F, Nordestgaard BG, Northstone K, O'Donovan MC, O'Rahilly S, Onoufriadis A, Oualkacha K, Owen MJ, Palotie A, Panoutsopoulou K, Parker V, Parr JR, Paternoster L, Paunio T, Payne F, Payne SJ, Perry JRB, Pietilainen O, Plagnol V, Pollitt RC, Povey S, Quail MA, Quaye L, Raymond L, Rehnstrom K, Ridout CK, Ring S, Ritchie GRS, Roberts N, Robinson RL, Savage DB, Scambler P, Schiffels S, Schmidts M, Schoenmakers N, Scott RH, Scott RA, Semple RK, Serra E, Sharp SI, Shaw A, Shihab HA, Shin S-Y, Skuse D, Small KS, Smee C, Smith GD, Southam L, Spasic-Boskovic O, Spector TD, St Clair D, St Pourcain B, Stalker J, Stevens E, Sun J, Surdulescu G, Suvisaari J, Syrris P, Tachmazidou I, Taylor R, Tian J, Tobin MD, Toniolo D, Traglia M, Tybjaerg-Hansen A, Valdes AM, Vandersteen AM, Varbo A, Vijayarangakannan P, Visscher PM, Wain LV, Walters JTR, Wang G, Wang J, Wang Y, Ward K, Wheeler E, Whincup P, Whyte T, Williams HJ, Williamson KA, Wilson C, Wilson SG, Wong K, Xu C, Yang J, Zaza G, Zeggini E, Zhang F, Zhang P, Zhang W. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications 2015, 6, 1-9.
• Maier R, Moser G, Chen G-B, Ripke S, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landen M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH, Nicol Ferrier I, Parr JR, Young AH. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. American Journal of Human Genetics 2015, 96(2), 283-294.
• Parr J, Gray L, Wigham S, McConachie H, LeCouteur A. Measuring the relationship between the parental Broader Autism Phenotype, parent–child interaction, and children’s progress following parent mediated intervention. Research in Autism Spectrum Disorders 2015, 20, 24-30.
• Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Human Mutation 2015, 36(9), 842-850.
• de Jonge M, Parr J, Rutter M, Wallace S, Kemner C, Bailey A, van Engeland H, Pickles A. New Interview and Observation Measures of the Broader Autism Phenotype: Group Differentiation. Journal of Autism and Developmental Disorders 2015, 45(4), 893-901.
• O'Dushlaine C, Rossin L, Lee PH, Duncan L, Parikshak NN, Newhouse S, Ripke S, Neale BM, Purcell SM, Posthuma D, Nurnberger JI, Lee SH, Faraone SV, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayes M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DHR, Bloss CS, Boehnke M, Boomsma DI, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Mattheisen M, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flicldnger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisen L, Gailagher L, Gejman PV, Georgieva L, Gershon ES, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kahler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim YJ, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landen M, Langstrom N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu CY, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PAF, Maestrini E, Magnusson PKE, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Muhleisen TW, Muir WJ, Muller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nothen MM, Nwulia EA, Nyholt DR, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnstrom K, Reif A, Ribases M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi JX, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJS, Cair DS, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutdiffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, Van den Oord EJCG, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zollner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Kendler KS, Weiss LA, Wray NR, Zhao ZM, Geschwind DH, Sullivan PF, Smoller JW, Holmans PA, Breen G, IIBDGC, Network & Pathway Anal Subgrp Psyc. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience 2015, 18(2), 199-209.
• McConachie HM, Parr J, Glod M, Hanratty J, Livingstone N, Oono IP, Robalino S, Baird GB, Beresford T, Charman T, Garland D, Green J, Gringras P, Jones G, Law J, Le Couteur AS, Macdonald G, McColl EM, Morris C, Rodgers J, Simonoff E, Terwee CB, Williams K. Systematic review of tools to measure outcomes for young children with autism spectrum disorder. Health Technology Assessment 2015, 19(41).
• Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N, Bala S, Clapham P, Coates G, Cox T, Daly A, Danecek P, Du Y, Durbin R, Edkins S, Ellis P, Flicek P, Guo X, Guo X, Huang L, Jackson DK, Joyce C, Keane T, Kolb-Kokocinski A, Langford C, Li Y, Liang J, Lin H, Liu R, Maslen J, McCarthy S, Muddyman D, Quail MA, Stalker J, Sun J, Tian J, Wang G, Wang J, Wang Y, Wong K, Zhang P, Barroso I, Birney E, Boustred C, Chen L, Clement G, Cocca M, Danecek P, Smith GD, Day INM, Day-Williams A, Down T, Dunham I, Durbin R, Evans DM, Gaunt TR, Geihs M, Greenwood CMT, Hart D, Hendricks AE, Howie B, Huang J, Hubbard T, Hysi P, Iotchkova V, Jamshidi Y, Karczewski KJ, Kemp JP, Lachance G, Lawson D, Lek M, Lopes M, MacArthur DG, Marchini J, Mangino M, Mathieson I, McCarthy S, Memari Y, Metrustry S, Min JL, Moayyeri A, Muddyman D, Northstone K, Panoutsopoulou K, Paternoster L, Perry JRB, Quaye L, Richards JB, Ring S, Ritchie GRS, Schiffels S, Shihab HA, Shin SY, Small KS, Artigas MS, Soranzo N, Southam L, Spector TD, St Pourcain B, Surdulescu G, Tachmazidou I, Timpson NJ, Tobin MD, Valdes AM, Visscher PM, Wain LV, Walter K, Ward K, Wilson SG, Wong K, Yang J, Zeggini E, Zhang F, Zheng HF, Anney R, Ayub M, Barrett JC, Blackwood D, Bolton PF, Breen G, Collier DA, Craddock N, Crooks L, Curran S, Curtis D, Durbin R, Gallagher L, Geschwind D, Gurling H, Holmans P, Lee I, Lonnqvist J, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Morris J, Muddyman D, O'Donovan MC, Owen MJ, Palotie A, Parr JR, Paunio T, Pietilainen O, Rehnstrom K, Sharp SI, Skuse D, St Clair D, Suvisaari J, Walters JTR, Williams HJ, Barroso I, Bochukova E, Bounds R, Dominiczak A, Durbin R, Farooqi IS, Hendricks AE, Keogh J, Marenne GL, McCarthy S, Morris A, Muddyman D, O'Rahilly S, Porteous DJ, Smith BH, Tachmazidou I, Wheeler E, Zeggini E, Al Turki S, Anderson CA, Antony D, Barroso IS, Beales P, Bentham J, Bhattacharya S, Calissano M, Carss K, Chatterjee K, Cirak S, Cosgrove C, Durbin R, Fitzpatrick DR, Floyd J, Foley AR, Franklin CS, Futema M, Grozeva D, Humphries SE, Hurles ME, McCarthy S, Mitchison HM, Muddyman D, Muntoni F, O'Rahilly S, Onoufriadis A, Parker V, Payne F, Plagnol V, Raymond FL, Roberts N, Savage DB, Scambler P, Schmidts M, Schoenmakers N, Semple RK, Serra E, Spasic-Boskovic O, Stevens E, van Kogelenberg M, Vijayarangakannan P, Walter K, Williamson KA, Wilson C, Whyte T, Ciampi A, Greenwood CMT, Hendricks AE, Li R, Metrustry S, Oualkacha K, Tachmazidou I, Xu CJ, Zeggini E, Bobrow M, Bolton PF, Durbin R, Fitzpatrick DR, Griffin H, Hurles ME, Kaye J, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond FL, Semple RK, Smee C, Spector TD, Timpson NJ, Charlton R, Ekong R, Futema M, Humphries SE, Khawaja F, Lopes LR, Migone N, Payne SJ, Plagnol V, Pollitt RC, Povey S, Ridout CK, Robinson RL, Scott RH, Shaw A, Syrris P, Taylor R, Vandersteen AM, Barrett JC, Barroso I, Smith GD, Durbin R, Farooqi IS, Fitzpatrick DR, Hurles ME, Kaye J, Kennedy K, Langford C, McCarthy S, Muddyman D, Owen MJ, Palotie A, Richards JB, Soranzo N, Spector TD, Stalker J, Timpson NJ, Zeggini E, Amuzu A, Casas JP, Chambers JC, Cocca M, Dedoussis G, Gambaro G, Gasparini P, Gaunt TR, Huang J, Iotchkova V, Isaacs A, Johnson J, Kleber ME, Kooner JS, Langenberg C, Luan J, Malerba G, Marz W, Matchan A, Min JL, Morris R, Nordestgaard BG, Benn M, Ring S, Scott RA, Soranzo N, Southam L, Timpson NJ, Toniolo D, Traglia M, Tybjaerg-Hansen A, van Duijn CM, van Leeuwen EM, Varbo A, Whincup P, Zaza G, Zeggini E, Zhang WH, UK10K Consortium, UCLEB Consortium. The UK10K project identifies rare variants in health and disease. Nature 2015, 526(7571), 82-90.
• Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JRB, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng H-F, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Smith GD, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG, Turki SA, Anderson C, Anney R, Antony D, Artigas MS, Ayub M, Balasubramaniam S, Barrett JC, Barroso I, Beales P, Bentham J, Bhattacharya S, Birney E, Blackwood D, Bobrow M, Bochukova E, Bolton P, Bounds R, Boustred C, Breen G, Calissano M, Carss K, Chatterjee K, Chen L, Ciampi A, Cirak S, Clapham P, Clement G, Coates G, Collier D, Cosgrove C, Cox T, Craddock N, Crooks L, Curran S, Curtis D, Daly A, Day-Williams A, Day INM, Down T, Du Y, Dunham I, Edkins S, Ellis P, Evans D, Faroogi S, Fatemifar G, Fitzpatrick DR, Flicek P, Flyod J, Foley AR, Franklin CS, Futema M, Gallagher L, Geihs M, Geschwind D, Griffin H, Grozeva D, Guo X, Guo X, Gurling H, Hart D, Hendricks A, Holmans P, Howie B, Huang L, Hubbard T, Humphries SE, Hurles ME, Hysi P, Jackson DK, Jamshidi Y, Jing T, Joyce C, Kaye J, Keane T, Keogh J, Kemp J, Kennedy K, Kolb-Kokocinski A, Lachance G, Langford C, Lawson D, Lee I, Lek M, Liang J, Lin H, Li R, Li Y, Liu R, Lonnqvist J, Lopes M, Lotchkova V, MacArthur D, Marchini J, Maslen J, Massimo M, Mathieson I, Marenne G, McGuffin P, McIntosh A, McKechanie AG, McQuillin A, Metrustry S, Mitchison H, Moayyeri A, Morris J, Muntoni F, Northstone K, O'Donnovan M, Onoufriadis A, O'Rahilly S, Oualkacha K, Owen MJ, Palotie A, Panoutsopoulou K, Parker V, Parr JR, Paternoster L, Paunio T, Payne F, Pietilainen O, Plagnol V, Quaye L, Quail MA, Raymond L, Rehnstrom K, Richards B, Ring S, Ritchie GRS, Roberts N, Savage DB, Scambler P, Schiffels S, Schmidts M, Schoenmakers N, Semple RK, Serra E, Sharp SI, Shin S-Y, Skuse D, Small K, Southam L, Spasic-Boskovic O, Clair DS, Stalker J, Stevens E, Pourcian BS, Sun J, Suvisaari J, Tachmazidou I, Tobin MD, Valdes A, Van Kogelenberg M, Vijayarangakannan P, Visscher PM, Wain LV, Walters JTR, Wang G, Wang J, Wang Y, Ward K, Wheeler E, Whyte T, Williams H, Williamson KA, Wilson C, Wong K, Xu CJ, Yang J, Zhang F, Zhang P. Whole-genome sequence-based analysis of thyroid function. Nature Communications 2015, 6, 5681.
• Babbs C, Lloyd D, Pagnamenta AT, Twigg SRF, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJL, Parr JR, Wilkie AOM. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. Journal of Medical Genetics 2014, 51(11), 737-747.
• Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin S-Y, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JRB, Ring SM, Gaye A, Dedoussis G, Farmaki A-E, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N, Turki SA, Anderson C, Anney R, Antony D, Artigas MS, Ayub M, Balasubramaniam S, Barrett JC, Barroso I, Beales P, Bentham J, Bhattacharya S, Birney E, Blackwood D, Bobrow M, Bochukova E, Bolton P, Bounds R, Boustred C, Breen G, Calissano M, Carss K, Chatterjee K, Ciampi A, Cirak S, Clapham P, Clement G, Coates G, Collier D, Cosgrove C, Cox T, Craddock N, Crooks L, Curran S, Curtis D, Daly A, Day-Williams A, Day INM, Down T, Du Y, Dunham I, Edkins S, Ellis P, Evans D, Faroogi S, Fatemifar G, Fitzpatrick DR, Flicek P, Flyod J, Foley AR, Franklin CS, Gallagher L, Gaunt T, Geihs M, Geschwind D, Greenwood C, Griffin H, Grozeva D, Guo X, Guo X, Gurling H, Hart D, Hendricks A, Holmans P, Howie B, Huang L, Hubbard T, Hurles ME, Hysi P, Jackson DK, Jamshidi Y, Jing T, Joyce C, Kaye J, Keane T, Keogh J, Kemp J, Kennedy K, Kolb-Kokocinski A, Lachance G, Langford C, Lawson D, Lee I, Lek M, Liang J, Lin H, Li R, Li Y, Liu R, Lonnqvist J, Lopes M, Lotchkova V, MacArthur D, Marchini J, Maslen J, Massimo M, Mathieson I, Marenne G, McGuffin P, McIntosh A, McKechanie AG, McQuillin A, Metrustry S, Mitchison H, Moayyeri A, Morris J, Muntoni F, Northstone K, O'Donnovan M, Onoufriadis A, O'Rahilly S, Oualkacha K, Owen MJ, Palotie A, Panoutsopoulou K, Parker V, Parr JR, Paternoster L, Paunio T, Payne F, Pietilainen O, Plagnol V, Quaye L, Quail MA, Raymond L, Rehnstrom K, Richards B, Ritchie GRS, Roberts N, Savage DB, Scambler P, Schiffels S, Schmidts M, Schoenmakers N, Semple RK, Serra E, Sharp SI, Shihab H, Skuse D, Small K, Spasic-Boskovic O, Clair DS, Stalker J, Stevens E, Pourcian BS, Sun J, Surdulescu G, Suvisaari J, Tachmazidou I, Tobin MD, Valdes A, Van Kogelenberg M, Vijayarangakannan P, Visscher PM, Wain LV, Walters JTR, Wang G, Wang J, Wang Y, Ward K, Wheeler E, Whyte T, Williams H, Williamson KA, Wilson C, Wilson SG, Wong K, Xu C, Yang J, Zhang F, Zhang P, Zheng H-F. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nature Communications 2014, 5, 4871.
• Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang ZZ, Vorstman JAS, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Gonzalez PJ, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. American Journal of Human Genetics 2014, 94(5), 677-694.
• South M, Chamberlain PD, Wigham S, Newton T, Le Couteur A, McConachie H, Gray L, Freeston M, Parr J, Kirwan CB, Rodgers J. Enhanced decision making and risk avoidance in high-functioning autism spectrum disorder. Neuropsychology 2014, 28(2), 222-228.
• Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H, IMGSAC, SLI Consortium, WGS500 Consortium, Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Newbury DF, Fisher SE. Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. European Journal of Human Genetics 2014, 22(10), 1165-1171.
• Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Archives of Disease in Childhood 2014, 99(6), 539-542.
• Winburn E, Charlton J, McConachie H, McColl E, Parr J, O'Hare A, Baird G, Gringras P, Wilson DC, Adamson A, Adams S, Le Couteur A. Parents' and Child Health Professionals' Attitudes Towards Dietary Interventions for Children with Autism Spectrum Disorders. Journal of Autism and Developmental Disorders 2014, 44(4), 747-757.
• Maskey M, Lowry J, Rodgers J, McConachie H, Parr J. Reducing specific phobia/fear in young people with autism spectrum disorders (ASDs) through a virtual reality environment intervention. PLoS ONE 2014, 9(7), e100374.
• De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai JL, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza I, Gonzalez PJ, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimaki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Willsey AJ, Yu TW, Yuen RKC, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Skiar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD, DDD Study, Homozygosity Mapping Collaborative, UK10K Consortium, Autism Sequencing Consortium. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014, 515(7526), 209-U119.
• Parr JR, Weldon E, Pennington L, Steen N, Williams J, Fairhurst C, O'Hare A, Lodh R, Colver A. The drooling reduction intervention trial (DRI): a single blind trial comparing the efficacy of glycopyrronium and hyoscine on drooling in children with neurodisability. Trials 2014, 15(60).
• Hadley D, Wu Z-L, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, Glessner J, Hakonarson H, Pinto D, Merikangas A, Klei L, Vorstman JAS, Thompson A, Regan R, Pagnamenta AT, Oliveira B, Magalhaes TR, Gilbert J, Duketis E, De Jonge MV, Cuccaro M, Correia CT, Conroy J, Conceica IC, Chiocchetti AG, Casey JP, Bolshakova N, Bacchelli E, Anney R, Zwaigenbaum L, Wittemeyer K, Wallace S, Van Engeland H, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jacob S, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg ED, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Almeida J, Cafe C, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. Nature Communications 2014, 5, 4074.
• Maskey M, Warnell F, Parr J, LeCouteur A, McConachie H. Emotional and Behavioural Problems in Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders 2013, 43(4), 851-859.
• Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayes M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DHR, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan JB, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisen L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan WH, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kahler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landen M, Langstrom N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu CY, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PAF, Maestrini E, Magnusson PKE, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Muhleisen TW, Muir WJ, Muller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nothen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnstrom K, Reif A, Ribases M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi JX, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJS, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJCG, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zollner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR, Cross-Disorder Group Psychiatric Genomics Consortium, Int Inflammatory Bowel Dis Genetic. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics 2013, 45(9), 984-994.
• Pickles A, Parr JR, Rutter ML, De Jonge MV, Wallace S, Le Couteur AS, van Engeland H, Wittemeyer K, McConachie H, Roge B, Mantoulan C, Pedersen L, Isager T, Poustka F, Bolte P, Bolton P, Weisblatt E, Green J, Papanikolauo K, Bailey AJ. New Interview and Observation Measures of the Broader Autism Phenotype: Impressions of Interviewee Measure. Journal of Autism and Developmental Disorders 2013, 43(9), 2082-2089.
• Colver AF, Merrick H, Deverill M, Lecouteur A, Parr J, Pearce MS, Rapley T, Vale L, Watson R, McConachie H, on behalf of the Transition Collaborative Group. Study protocol: longitudinal study of the transition of young people with complex health needs from child to adult health services. BMC Public Health 2013, 13(1), 675.
• Parr J, Jolleff N, Gray L, Gibbs J, Williams J, McConachie H. Twenty years of research shows UK child development team provision still varies widely for children with disability. Child: Care, Health and Development 2013, 39(6), 903-907.
• Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JAS, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer S, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics 2012, 21(21), 4781-4792.
• Parr JR, Buswell CA, Banerjee K, Fairhurst C, Williams J, OHare A, Pennington L. Management of drooling in children: a survey of UK paediatricians' clinical practice. Child: Care, Health and Development 2012, 38(2), 287-291.
• Palmer E, Ketteridge C, Parr JR, Baird G, LeCouteur A. Autism spectrum disorder diagnostic assessments: improvements since publication of the National Autism Plan for Children. Archives of Disease in Childhood 2011, 96(5), 473-475.
• Parr J, Wittemeyer K, LeCouteur A. Commentary: The Broader Autism Phenotype Implications for Research & Clinical Practice. In: Amaral, D., Geschwind, D., Dawson, G, ed. Autism Spectrum Disorders. New York, USA: Oxford University Press, 2011, pp.521-524.
• Absoud M, Parr JR, Salt A, Dale N. Developing a schedule to identify social communication difficulties and autism spectrum disorder in young children with visual impairment. Developmental Medicine and Child Neurology 2011, 53(3), 285-288.
• Anney RJ, Kenny EM, ODushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Bailey AJ, Fernandez BA, Szatmari P, Scherer SW, Patterson A, Marshall CR, Pinto D, Vincent JB, Fombonne E, Betancur C, Delorme R, Leboyer M, Bourgeron T, Mantoulan C, Roge B, Tauber M, Freitag CM, Poustka F, Duketis E, Klauck SM, Poustka A, Papanikolaou K, Tsiantis J, Gallagher L, Gill M, Anney R, Bolshakova N, Brennan S, Hughes G, McGrath J, Merikangas A, Ennis S, Green A, Casey JP, Conroy JM, Regan R, Shah N, Maestrini E, Bacchelli E, Minopoli F, Stoppioni V, Battaglia A, Igliozzi R, Parrini B, Tancredi R, Oliveira G, Almeida J, Duque F, Vicente A, Correia C, Magalhaes TR, Gillberg C, Nygren G, Jonge MD, VanEngeland H, Vorstman JA, Wittemeyer K, Baird G, Bolton PF, Rutter ML, Green J, Lamb JA, Pickles A, Parr JR, Couteur AL, Berney T, McConachie H, Wallace S, Coutanche M, Foley S, White K, Monaco AP, Holt R, Farrar P, Pagnamenta AT, Mirza GK, Ragoussis J, Sousa I, Sykes N, Wing K, Hallmayer J, Cantor RM, Nelson SF, Geschwind DH, Abrahams BS, Volkmar F, PericakVance MA, Cuccaro ML, Gilbert J, Cook EH, Guter SJ, Jacob S, Nurnberger JI, McDougle CJ, Posey DJ, Lord C, Corsello C, Hus V, Buxbaum JD, Kolevzon A, Soorya L, Parkhomenko E, Leventhal BL, Dawson G, Vieland VJ, Hakonarson H, Glessner JT, Kim C, Wang K, Schellenberg GD, Devlin B, Klei L, Minshew N, Sutcliffe JS, Haines JL, Lund SC, Thomson S, Yaspan BL, Coon H, Miller J, McMahon WM, Munson J, Estes A, Wijsman EM. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically palusible processes for autism spectrum disorder. European Journal of Human Genetics 2011, 19(10), 1082-1089.
• Watson R, Parr J, Joyce C, May C, LeCouteur A. Models of transitional care for young people with complex health needs: a scoping review. Child: Care, Health and Development 2011, 37(6), 780-791.
• Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, Parr JR. Novel method for combined likage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. Journal of Neurodevelopmental Disorders 2011, 3(2), 113-123.
• Gray L, Ansell P, Baird G, Parr JR. The continuing challenge of diagnosing autism spectrum disorder in children with Down syndrome. Child: Care, Health and Development 2011, 37(4), 459-461.
• Parr J, Le Couteur A. What is the Broader Autism Phenotype?. In: Bolte, S., Hallmayer, J, ed. Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts. Cambridge, Massachusetts, USA: Hogrefe Publishing, 2011, pp.521-524.
• Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Osey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang ZZ, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics 2010, 19(20), 4072-4082.
• Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F, Chiocchetti A, Ludwig KU, Hoffmann P, Paracchini S, Lowy E, Harold DH, Chapman JA, Klauck SM, Poustka F, Houben RH, Staal WG, Ophoff RA, O'Donovan MC, Williams J, Northen MM, Schulte Korne G, Deloukas P, Ragoussis J, Bailey AJ, Maestrini E, Monaco AP, International Molecular Genetic Study Of Autism Consortium. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry 2010, 68(4), 320-328.
• Parr JR, Jayawant S, Buckley C, Vincent A. Childhood autoimmune myasthenia. In: Dale, R.C., Vincent, A, ed. Inflammatory and Autoimmune Disorders of the Nervous System in Children. London: MacKeith Press, 2010, pp.388-405.
• Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH, Dawson G, Schellenberg GD, Battaglia A, Maestrini E, Jeng L, Hutchison T, RajcanSeparovic E, Chudley AE, Lewis SM, Liu X, HOlden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy RF, Scherer SW, Vincent JB, Autism Genome Project Consortium. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine 2010, 2(49), 68.
• Parr J, Le Couteur A, Baird G, Rutter M, Pickles A, Fombonne E, Bailey A. Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample. Journal of Autism and Developmental Disorders 2010, 41(3), 332-340.
• Wallace S, Sebastian C, Pellicano E, Parr J, Bailey A. Face Processing Abilities in Relatives of Individuals With ASD. Autism Research 2010, 3(6), 345-349.
• Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Berney T, Le Couteur A, McConachie H, Parr JR. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466, 368–372.
• Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, deBildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP, IMGSAC. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Molecular Psychiatry 2010, 15(9), 954-968.
• Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder E, Kantojarvi K, Jarvela I, Klauck SM, Poustka F, Bailey AJ, Monaco AP, The International Molecular Genetic Study of Autism Consortium, Newcastle Site: Le Couteur, A. Principal Investigator. Linkage and Candidate Gene Studies of Autism Spectrum Disorders in European Populations. European Journal of Human Genetics 2010, 18(9), 1013-1019.
• Sousa I, Clark TG, Holt R, Pagnamenta AT, Mulder EJ, Minderaa RB, Bailey AJ, Battaglia A, Klauck SM, Poustka F, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC). Polymophisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Molecular Autism 2010, 1(1), 7.
• Parr JR, Dale NJ, Shaffer LM, Salt AT. Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Developmental Medicine and Child Neurology 2010, 52(10), 917-921.
• Pagnamenta AT, Wing K, Sadighi AE, Knight SJ, Bolte S, Schmotzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC). A 15q13.3 microdeletion segregating with autism. European Journal of Human Genetics 2009, 17(5), 687-692.
• Absoud M, Parr J, Pretorius P, Zaiwalla Z, Jayawant S. A novel ARX phenotype: Rapid neurodegeneration with Ohtahara Syndrome and a dyskinetic movement disorder. Developmental Medicine and Child Neurology 2009, 52(3), 305-307.
• Parr JR. BMJ Best Practice: Autism. London: British Medical Journal, 2009. Available at: http://bestpractice.bmj.com/best-practice/monograph/379.html.
• Parr JR. BMJ Point of Care: Autism. London: British Medical Journal, 2009.
• Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC). Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. European Journal of Human Genetics 2009, 17, 1347-1353.
• Weiss LA, Arking DE, McConachie H. Letter: A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009, 461, 802-808.
• Sousa I, Clark TG, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC). MET and autism susceptibility: family and case-control studies. European Journal of Human Genetics 2009, 17(6), 749-758.
• Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M, Mouren-Simeoni M-C, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A, The International Molecular Genetic Study of Autism Consortium (IMGSAC), Jarvela I, Maestrini E, Bourgeron T. Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(6), 830-835.
• Parr JR. Autism. UK: BMJ Group, 2008.
• Liu XQ, Paterson AD, Szatmaric P, Autism Genome Project Consortium. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biological Psychiatry 2008, 64(7), 561-570.
• Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR, Kay JD. Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia. Developmental Medicine and Child Neurology 2008, 50(2), 175-179.
• Andrew M, Parr JR, Stacey R, Hart Y, Pretorius P, Nijhawan S, Zaiwalla Z, Rosenfeld JV, McShane MA. Transcallosal Resection of Hypothalamic Hamartoma in Children with Gelastic Seizures. Child's Nervous System 2008, 24(2), 275-279.
• Parr JR. Autism. Clinical Evidence 2007, 0322.
• Parr JR, Jayawant S. Childhood myasthenia: Clinical subtypes and practical management. Developmental Medicine and Child Neurology 2007, 49(8), 629-635.
• Parr JR, Green A, Joint C, Andrew M, Gregory R, Scott R, McShane MA, Aziz T. Deep Brain Stimulation in childhood: An effective treatment for Idiopathic Dystonia. Archives of Disease in Childhood 2007, 92(8), 708-711.
• Toma C, Rossi M, Sousa I, Blasi F, Bacchelli E, Alen R, Vanhala R, Monaco AP, Jarveka I, Maestrini E, IMGSAC. Is ASMT a susceptibility gene for autism spectrum disorders?. Molecular Psychiatry 2007, 12(11), 977-979.
• Morten K, Ashley N, Wijburg F, Hadzic N, Parr JR, Jayawant S, Adams S, Bindoff L, Bakker H, Mieli-Vergani G, Poulton J. Liver mtDNA content increases during development: A comparison of the methods and the importance of age and tissue specific controls for the diagnosis of mtDNA depletion. Mitochondrion 2007, 7(6), 386-395.
• Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu X-Q, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, LaJonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu C-E, Roge B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bolte S, Feineis-Matthews S, Herbrecht E, Schmotzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, De Jonge M, Kemner C, Koop F, Langemeijer M, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson J-A, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 2007, 39(3), 319-328.
• Jayawant S, Parr JR. Outcome following subdural haemorrhages in infancy. Archives of Disease in Childhood 2007, 92(4), 343-347.
• Blasi F, et al, The IMGSAC. Absence of coding mutations in the X-Linked Absence of coding mutations in the X-Linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006, 141(3), 220-221.
• Parr JR, Pang K, Mollett A, Zaiwalla Z, Selway R, McCormick D, Jayawant S. Epilepsy responds to vagus nerve stimulation in ring chromosome 20 syndrome. Developmental Medicine and Child Neurology 2006, 48(1), 80.
• Parr JR, Lamb J, Bailey AJ, Monaco AP. Response to paper by Molloy et al.: Linkage on 21q and 7q in autism subset with regression. Molecular Psychiatry 2006, 11(7), 617-619.
• Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium. Analysis of the IMGSAC autism susceptibility loci: evidence for sex-limited and parent-of-origin specific effects. Journal of Medical Genetics 2005, 42, 132-137.
• Parr JR. Autism. Clinical Evidence 2005, 14, 275-284.
• Parr JR. Autism. Clinical Evidence 2005.
• Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Lamb J, Bailey AJ, Monaco AP, International Molecular Genetics Study of Autism Consortium (IMGSAC). Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT. Journal of Human Genetics 2005, 76(6), 950-966.
• Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poutska F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos E, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP, Internation Molecular Study of Autism (IMGSAC). Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. European Journal of Human Genetics 2005, 13(2), 198-207.
• Bonora E, Beyer KS, Lamb JA, Parr JR, Klauck SM, Benner A, Poustka A, Paolucci M, Abbott A, Ragoussis I, Bailey AJ, Monaco AP, IMGSAC. Analysis of Reelin as a candidate gene for autism. Molecular Psychiatry 2003, 8(10), 885-892.
• Parr JR, Ward A, Inman S. Current Practice in the Management of ADHD. Child: Care, Health and Development 2003, 29(3), 215-218.
• Bailey A, Parr J. Implications of the broader phenotype for concepts of autism; General Discussion; Final Discussion. In: Bock, G., Goode, J, ed. Autism: Neural Basis and Treatment Possibilities. Chichester, UK; Hoboken, New Jersey, USA: Wiley-Blackwell, 2003, pp.26-41, 109-111, 281-297.
• Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: In search of susceptibility genes. NeuroMolecular Medicine 2002, 2(1), 11-28.
• Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CSL, Baird G, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP, International Molecular Consortium. FOXP2 Is Not a Major Susceptibility Gene for autism or Specific Language Impairment. American Journal of Human Genetics 2002, 70(5), 1318-1327.
• Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A, International Molecular Genetic Study of Autism Consortium (IMGSAC). Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Human Genetics 2002, 111(4-5), 305-309.
• Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP, Maestrini E, International Molecular Genetic Study of Autism Consortium (IMGSAC). Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry 2002, 7(3), 289-301.
• Parr J, Baird G, Le Couteur A, Rutter M, Bailey A, IMGSAC. Phenotypic characteristics of autistic regression in an international multiplex sample. In: American Journal of Medical Genetics: 10th World Congress of Psychiatric Genetics. 2002, Brussels, Belgium: John Wiley & Sons, Inc.
• Palferman S, Matthews N, Turner M, Moore J, Hervas A, Aubin A, Wallace S, Michelotti J, Wainhouse C, Paul A, Thompson E, Gupta R, Garner C, Murin M, Freitag C, Ryder N, Cottington E, Parr J, Pickles A, Rutter M, Bailey A, Barnby G, Lamb JA, Marlow A, Scudder P, Monaco AP, Baird G, Cox A, Docherty Z, Warburton P, Green EP, Abbs SJ, Le Couteur A, McConachie HR, Berney T, Kelly TP, De Vries PJ, Bolton PF, Green J, Gilchrist A, Whittacker J, Bolton B, Packer R, Maestrini E, Blasi F, Van Engeland H, De Jonge MV, Kemner C, Klauck SM, Beyer KS, Epp S, Poustka A, Benner A, Goethe JW, Poustka F, Ruhl D, Schmotzer G, Boolte S, Feineis-Matthews S, Fombonne E, Rogee B, Fremolle-Kruck J, Pienkowski C, Tauber MT, Pedersen L, Nielsen KB, Eriksen G, Haracopos D, Cotterill RMJ, Tsiantis J, Papanikolaou K, Lord C, Corsello C, Guter S, Leventhal B, Cook E, Smalley SL, Bailey J, McGough J, Levitt J, Pauls D, Volkmar F, Weeks DE, Int Mol Genetic Study Autism Cons. A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p. American Journal of Human Genetics 2001, 69(3), 570-581.