| Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature P Hemati, A Revah‐Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ... American journal of medical genetics Part A 176 (11), 2259-2275, 2018 | 56 | 2018 |
| Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study F Mone, H Abu Subieh, S Doyle, S Hamilton, DJ McMullan, S Allen, ... Ultrasound in Obstetrics & Gynecology 59 (6), 723-730, 2022 | 28 | 2022 |
| Multi-organ dysfunction in cerebral palsy J Allen, Z Zareen, S Doyle, L Whitla, Z Afzal, M Stack, O Franklin, A Green, ... Frontiers in pediatrics 9, 668544, 2021 | 18 | 2021 |
| The prenatal exome–a door to prenatal diagnostics? JS Castleman, E Wall, S Allen, D Williams, S Doyle, MD Kilby Expert review of molecular diagnostics 21 (5), 465-474, 2021 | 13 | 2021 |
| The genetic and biochemical basis of trimethylaminuria in an Irish cohort S Doyle, JJ O'Byrne, M Nesbitt, DN Murphy, Z Abidin, N Byrne, G Pastores, ... JIMD reports 47 (1), 35-40, 2019 | 11 | 2019 |
| DDD study, Goldstein DB, Anyane-Yeboa K. Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature P Hemati, A Revah-Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ... Am J Med Genet A 176 (11), 2259-2275, 2018 | 7 | 2018 |
| Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: a cohort study F Mone, S Doyle, A Ahmad, H Abu Subieh, S Hamilton, S Allen, T Marton, ... Acta obstetricia et gynecologica Scandinavica 100 (3), 418-424, 2021 | 6 | 2021 |
| Pitfalls of prenatal diagnosis associated with mosaicism K Reilly, S Doyle, SJ Hamilton, MD Kilby, F Mone The Obstetrician and Gynaecologist, 2022 | 5 | 2022 |
| A case of frog breathing. E Moloney, S Doyle, J Kinahan, CM Burke Irish medical journal 95 (3), 81-82, 2002 | 5 | 2002 |
| VP33. 06: Non‐immune hydrops fetalis and diagnostic yield with prenatal‐exome sequencing: a case series F Mone, S Doyle, S Hamilton, S Allen, D Williams, MD Kilby Ultrasound in Obstetrics & Gynecology 56, 195-195, 2020 | 3 | 2020 |
| Near peer teaching in a paediatric healthcare setting A Jenkinson, A Smith, S Doyle, K Gorman, S Murphy Ir Med J 112, 1009, 2019 | 2 | 2019 |
| Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families V Jain, SH Foo, S Chooi, C Moss, R Goodwin, S Berland, AJ Clarke, ... European Journal of Human Genetics 31 (12), 1421-1429, 2023 | 1 | 2023 |
| A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary … TP McVeigh, KJ Sweeney, DJ Brennan, UM McVeigh, S Ward, A Strydom, ... Familial Cancer 22 (2), 135-149, 2023 | 1 | 2023 |
| Distal intestinal obstruction syndrome and constipation following lung transplantation, incidence and nutritional consequences S Murphy, J O'Mahony, M McKiernan, S Doyle, JJ Egan The Journal of Heart and Lung Transplantation 38 (4), S299, 2019 | 1 | 2019 |
| Caring for Obese Children-A change in Paradigm S Doyle, D Cahill, M Smyth, S Murphy Irish Medical Journal, 2017 | 1 | 2017 |
| Exploring the prevalence of musculoskeletal impairments in children and adolescents attending an obesity management service G O'Malley, M Elmes, R Keating, S Killeen, S Doyle, S Murphy, O Lennon Appetite, 309, 2015 | 1 | 2015 |
| Molecular autopsy for fetal structural anomaly clinical outcomes of a multidisciplinary team approach E Wall, E Petley, F Mone, S Doyle, S Allen, J Castleman, T Marton, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 364-365, 2024 | | 2024 |
| Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype MD Kilby, J Castleman, S Allen, S Doyle, DK Williams Prenatal Diagnosis 43 (11), 1472-1476, 2023 | | 2023 |
| A case of Costello syndrome diagnosed by trio whole exome sequencing H McDermott, P Karkhanis, S Doyle, H Gowda Journal of Obstetrics and Gynaecology 42 (6), 2498-2501, 2022 | | 2022 |
| VP28. 02: Evolving phenotypes and the clinical impact of progressive prenatal‐exome sequencing pathways: a cohort study. F Mone, S Doyle, H Abu‐Subieh, S Hamilton, T Marton, D Williams, ... Ultrasound in Obstetrics & Gynecology 58, 2021 | | 2021 |
