| Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease A Sergijenko, A Langford-Smith, AY Liao, CE Pickford, J McDermott, ... Molecular Therapy 21 (10), 1938-1949, 2013 | 112 | 2013 |
| Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ... Brain 142 (11), 3382-3397, 2019 | 92 | 2019 |
| Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy RJ Holley, SM Ellison, D Fil, C O’Leary, J McDermott, N Senthivel, ... Brain 141 (1), 99-116, 2018 | 73 | 2018 |
| Science, technology and skills PG Pardey, JS James, JM Alston, S Wood, B Koo, E Binenbaum, ... | 64 | 2007 |
| Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT‐RNR1 Genotype JH McDermott, J Wolf, K Hoshitsuki, R Huddart, KE Caudle, ... Clinical Pharmacology & Therapeutics 111 (2), 366-372, 2022 | 59 | 2022 |
| Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ... European Journal of Human Genetics 27 (5), 747-759, 2019 | 48 | 2019 |
| Regional deposition of mometasone furoate nasal spray suspension in humans. SA Shah, RL Berger, J McDermott, P Gupta, D Monteith, A Connor, W Lin Allergy & Asthma Proceedings 36 (1), 2015 | 46 | 2015 |
| Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission JM Ellingford, R George, JH McDermott, S Ahmad, JJ Edgerley, ... Elife 10, e65453, 2021 | 42 | 2021 |
| Decomposing oncogenic transcriptional signatures to generate maps of divergent cellular states JW Kim, OO Abudayyeh, H Yeerna, CH Yeang, M Stewart, RW Jenkins, ... Cell systems 5 (2), 105-118. e9, 2017 | 41 | 2017 |
| New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin … A Begemann, H Sticht, A Begtrup, A Vitobello, L Faivre, S Banka, ... Genetics in Medicine 23 (3), 543-554, 2021 | 34 | 2021 |
| Rapid point-of-care genotyping to avoid aminoglycoside-induced ototoxicity in neonatal intensive care JH McDermott, A Mahaveer, RA James, N Booth, M Turner, KE Harvey, ... JAMA pediatrics 176 (5), 486-492, 2022 | 29 | 2022 |
| Novel formulation of abiraterone acetate might allow significant dose reduction and eliminates substantial positive food effect T Solymosi, Z Ötvös, R Angi, B Ordasi, T Jordán, L Molnár, J McDermott, ... Cancer Chemotherapy and Pharmacology 80, 723-728, 2017 | 28 | 2017 |
| Diagnosing and preventing hearing loss in the genomic age JH McDermott, LP Molina-Ramírez, IA Bruce, A Mahaveer, M Turner, ... Trends in hearing 23, 2331216519878983, 2019 | 27 | 2019 |
| Pharmacogenomic testing to support prescribing in primary care: a structured review of implementation models J Hayward, J McDermott, N Qureshi, W Newman Pharmacogenomics 22 (12), 761-776, 2021 | 25 | 2021 |
| Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth JH McDermott, N Hickson, I Banerjee, PG Murray, D Ram, K Metcalfe, ... Clinical genetics 93 (3), 687-692, 2018 | 25 | 2018 |
| The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum JH McDermott, DDD Study, J Clayton-Smith, TA Briggs European journal of medical genetics 61 (5), 253-256, 2018 | 23 | 2018 |
| Refusal of viral testing during the SARS-CoV-2 pandemic JH McDermott, WG Newman Clinical medicine 20 (5), e163, 2020 | 22 | 2020 |
| Computer support for clinical practice: embedding and evolving protocols of care B Katzenberg, F Pickard, J McDermott Proceedings of the 1996 ACM conference on Computer supported cooperative …, 1996 | 18 | 1996 |
| The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting JH McDermott, J Burn, D Donnai, WG Newman European Journal of Human Genetics 29 (6), 891-893, 2021 | 17 | 2021 |
| Sootblowing optimization for improved boiler performance JR James, J McDermott, S Piche, F Pickard, NJ Parikh US Patent 8,340,824, 2012 | 16 | 2012 |
