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Our Publications

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20 publications from 2022

Gunne E, Lambert DM, Ward AJ, Murphy DN, Treacy EP, Lynch SA , An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature , European Journal of Human Genetics, July 2022, 2022
Journal Article; Published; Peer Reviewed; Author Profiles: EPTREACY EPTREACY

Ward AJ, Murphy D, Marron R, McGrath V, Bolz-Johnson M, Cullen W, Daly A, Hardiman O, Lawlor A, Lynch SA, MacLachlan M, McBrien J, Ni Bhriain S, O'Byrne JJ, O'Connell SM, Turner J, Treacy EP. , Designing rare disease care pathways in the Republic of Ireland: a co-operative model., Orphanet Journal of Rare Diseases , 11;17(1):1, 2022
Journal Article; Published; Peer Reviewed; Author Profiles: EPTREACY EPTREACY

Hassan Eliwan and Murwan Omer and Ellen McKenna and Lynne A. Kelly and Beatrice Nolan and Irene Regan and Eleanor J. Molloy, Protein C Pathway in Paediatric and Neonatal Sepsis, Frontiers in Pediatrics, 9, 2022
Journal Article; Published; Peer Reviewed; Author Profile: EMNOLAN; DOI; URL

Hartshorn S, Durnin S, Lyttle MD, Barrett MJ, PERUKI., Pain management in children and young adults with minor injury in emergency departments in the UK and Ireland: a PERUKI service evaluation, BMJ Paediatr Open, 6, (1), 2022, pe001273
Journal Article; Published; Peer Reviewed; Author Profile: SDURNIN; DOI; URL

Beatrice Nolan, Inhibitors in Haemophilia A, The Third International Medical Conference on Hemophilia, Thalassaemia and Sickle Cell Disease, Amman, Jordan, 2022, Jordanian Ministry of Health, Jordanian Thalassaemia and Hemophilia Society, World Federation of Hemophilia, Thalassemia International Federation
Invited Talk; Presented; Non Peer Reviewed; Author Profile: EMNOLAN

Christoph Königs, Margareth C Ozelo, Amy Dunn, Roshni Kulkarni, Beatrice Nolan, Simon A Brown, Dr, Michele Schiavulli, Sriya Gunawardena, Sutirtha Mukhopadhyay, Deepthi Jayawardene, Bent Winding, Manuel Carcao, First study of extended half-life rFVIIIFc in previously untreated patients with hemophilia A: PUPs A-LONG final results, Blood, 2022
Journal Article; Published; Peer Reviewed; Author Profile: EMNOLAN; DOI

Ryan GA, Start AO, Cathcart B, Hughes H, Denona B, Higgins S, Corcoran S, Walsh J, Carroll S, Mahony R, Crimmins D, Caird J, Robinson I, Colleran G, McParland P, McAuliffe FM., Prenatal Findings and Associated Survival Rates in Fetal Ventriculomegaly: A Prospective Observational Study, Int J Gynaecol Obstet . 2022 Apr 3. doi: 10.1002/ijgo.14206, 2022
Journal Article; Published; Peer Reviewed; Author Profile: COLLERAG

Donlon, Eoghan, McGettigan, Jamie, Gaffney, Christine, Ahmad, Marzuki Wan, Boers, Peter, Treacy, Eileen, Chaila, Elijah, Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome, Practical Neurology, 2022, ppractneurol-2021-003196
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Aideen Byrne, Immediate type allergy in children: what a dentist should know, Annual meeting for Irish branch of european pediatric dental association, Hermitage Clinic Dublin, MARCH 4TH , 2022
Invited Talk; Presented; Non Peer Reviewed; Author Profile: BYRNEA71

Sasaki, E. and Phelan, E. and O'Regan, M. and Kassim, A.H. and Miletin, J. and McMahon, C. and O'Sullivan, M.J. and Baptista, J. and Lynch, S.A., HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckelâ€"Gruber in a Romani family, Clinical Genetics, 101, (1), 2022, p142-143
Journal Article; Published; Peer Reviewed; Author Profile: LYNCHS17; DOI; URL

Walsh, N. and Malone, L. and Lynch, S.A., Duplication of referral, a tsunami of paper: how much does it cost the Irish health services?, Irish Journal of Medical Science, 2022
Journal Article; Published; Peer Reviewed; Author Profile: LYNCHS17; DOI; URL

Gofin, Y. and Wang, T. and Gillentine, M.A. and Scott, T.M. and Berry, A.M. and Azamian, M.S. and Genetti, C. and Agrawal, P.B. and Picker, J. and Wojcik, M.H. and Delgado, M.R. and Lynch, S.A. and Scherer, S.W. and Howe, J.L. and Bacino, C.A. and DiTroia, S. and VanNoy, G.E. and O'Donnell-Luria, A. and Lalani, S.R. and Graf, W.D. and Rosenfeld, J.A. and Eichler, E.E. and Earl, R.K. and Scott, D.A., Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency, Human Mutation, 2022
Journal Article; Published; Peer Reviewed; Author Profile: LYNCHS17; DOI; URL

Gregor, A. and Meerbrei, T. and Gerstner, T. and Toutain, A. and Lynch, S.A. and Stals, K. and Maxton, C. and Lemke, J.R. and Bernat, J.A. and Bombei, H.M. and Foulds, N. and Hunt, D. and Kuechler, A. and Beygo, J. and Stöbe, P. and Bouman, A. and Palomares-Bralo, M. and Santos-Simarro, F. and Garcia-Minaur, S. and Pacio-Miguez, M. and Popp, B. and Vasileiou, G. and Hebebrand, M. and Reis, A. and Schuhmann, S. and Krumbiegel, M. and Brown, N.J. and Sparber, P. and Melikyan, L. and Bessonova, L. and Cherevatova, T. and Sharkov, A. and Shcherbakova, N. and Dabir, T. and Kini, U. and Schwaibold, E.M.C. and Haack, T.B. and Bertoli, M. and Hoffjan, S. and Falb, R. and Shinawi, M. and Sticht, H. and Zweier, C., De novo missense variants in FBXO11 alter its protein expression and subcellular localization, Human Molecular Genetics, 31, (3), 2022, p440-454
Journal Article; Published; Peer Reviewed; Author Profile: LYNCHS17; DOI; URL

Coelho GLH, Hanel PHP, Byrne A, Hourihane J, DunnGalvin A., The food allergy COPE inventory: Adaptation and psychometric properties., World Allergy Organ J., 2022
Journal Article; Published; Peer Reviewed; Author Profile: BYRNEA71; DOI

Marina Tsoumani 1, Lynne Regent 2, Amena Warner 3, Katy Gallop 4, Ram Patel 5, Robert Ryan 6, Andrea Vereda 6, Sarah Acaster 4, Audrey DunnGalvin 7, Aideen Byrne 8, Allergy to Peanuts imPacting Emotions And Life (APPEAL): The impact of peanut allergy on children, teenagers, adults and caregivers in the UK and Ireland, PLOS, 2022
Journal Article; Published; Peer Reviewed; Author Profile: BYRNEA71; DOI

Gabrielle C Colleran, Fetal Imaging Workshop, ECPNR neuro course, Online, January 2022, 2022
Invited Talk; Published; Non Peer Reviewed; Author Profile: COLLERAG

Ní Bhroin M, Kelly L, Sweetman D, Aslam S, O'Dea MI, Hurley T, Slevin M, Murphy J, Byrne AT, Colleran G, Molloy EJ, Bokde ALW., Relationship Between MRI Scoring Systems and Neurodevelopmental Outcome at Two Years in Infants With Neonatal Encephalopathy., Pediatr Neurol, (126), 2022, p35 - 42
Journal Article; Published; Peer Reviewed; Author Profiles: BOKDEA ABYRNE29 COLLERAG

Start AO, Ryan GA, Cathcart B, Hughes H, Higgins S, Corcoran S, Walsh J, Carroll S, Mahony R, Crimmins D, Caird J, Colleran G, McParland P, McAuliffe FM., Severe fetal ventriculomegaly: Fetal morbidity and mortality, caesarean delivery rates and obstetrical challenges in a large prospective cohort., Prenat Diagnosis, 2022, p109 - 117
Journal Article; Published; Peer Reviewed; Author Profile: COLLERAG

Gabrielle C Colleran, Fetal magnetic resonance imaging at 3 Tesla - the European experience., Paediatric Radiology , 2022
Journal Article; Published; Peer Reviewed; Author Profile: COLLERAG

Swan D., Paran S., Nolan B., Port removal in patients receiving emicizumab prophylaxis: A single centre experience and review of the literature, Haemophilia, 28, (1), 2022, p42 - 45, p42-45
Journal Article; Published; Peer Reviewed; Author Profile: EMNOLAN; DOI