| Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review VX Han, S Patel, HF Jones, TC Nielsen, SS Mohammad, MJ Hofer, ... Translational psychiatry 11 (1), 71, 2021 | 229 | 2021 |
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014 | 183 | 2014 |
| Rett syndrome: a genetic update and clinical review focusing on comorbidities WA Gold, R Krishnarajy, C Ellaway, J Christodoulou ACS chemical neuroscience 9 (2), 167-176, 2018 | 116 | 2018 |
| A novel gene family induced by acute inflammation in endothelial cells K Warton, NC Foster, WA Gold, KK Stanley Gene 342 (1), 85-95, 2004 | 104 | 2004 |
| High-Throughput In Vitro, Ex Vivo, and In Vivo Screen of Adeno-Associated Virus Vectors Based on Physical and Functional Transduction A Westhaus, M Cabanes-Creus, A Rybicki, G Baltazar, RG Navarro, E Zhu, ... Human gene therapy 31 (9-10), 575-589, 2020 | 78 | 2020 |
| A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain SL Williamson, L Giudici, C Kilstrup-Nielsen, W Gold, GJ Pelka, PPL Tam, ... Human genetics 131, 187-200, 2012 | 70 | 2012 |
| Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype WA Gold, SL Williamson, S Kaur, IP Hargreaves, JM Land, GJ Pelka, ... Mitochondrion 15, 10-17, 2014 | 65 | 2014 |
| MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors WA Gold, TA Lacina, LC Cantrill, J Christodoulou Journal of Molecular Medicine 93, 63-72, 2015 | 64 | 2015 |
| Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: transcriptomic data show common enriched innate immune pathways HF Jones, VX Han, S Patel, BS Gloss, N Soler, A Ho, S Sharma, K Kothur, ... Brain, Behavior, and Immunity 94, 308-317, 2021 | 41 | 2021 |
| Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease A Alodaib, N Sobreira, WA Gold, LG Riley, NJ Van Bergen, MJ Wilson, ... European Journal of Human Genetics 25 (1), 79-84, 2017 | 38 | 2017 |
| Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease M Nafisinia, N Sobreira, L Riley, W Gold, B Uhlenberg, C Weiß, C Boehm, ... European Journal of Human Genetics 25 (10), 1134-1141, 2017 | 34 | 2017 |
| Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders J Zhang, P Barbaro, Y Guo, A Alodaib, J Li, W Gold, L Ades, BJ Keating, ... Clinical genetics 89 (2), 163-172, 2016 | 25 | 2016 |
| Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) S Kaur, NJ Van Bergen, KJ Verhey, CJ Nowell, B Budaitis, Y Yue, ... Human mutation 41 (10), 1761-1774, 2020 | 21 | 2020 |
| Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review VX Han, HF Jones, S Patel, SS Mohammad, MJ Hofer, S Alshammery, ... Brain, behavior, and immunity 99, 91-105, 2022 | 20 | 2022 |
| Neurological disorders associated with WWOX germline mutations—a comprehensive overview E Banne, B Abudiab, S Abu-Swai, SR Repudi, DJ Steinberg, D Shatleh, ... Cells 10 (4), 824, 2021 | 19 | 2021 |
| Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction M Nafisinia, LG Riley, WA Gold, K Bhattacharya, CR Broderick, ... PLoS One 12 (6), e0178125, 2017 | 19 | 2017 |
| The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome WA Gold, J Christodoulou Frontiers in Cellular Neuroscience 9, 266, 2015 | 18 | 2015 |
| Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets R Krishnaraj, F Haase, B Coorey, EJ Luca, I Wong, A Boyling, C Ellaway, ... Human Mutation 40 (12), 2184-2196, 2019 | 16 | 2019 |
| Maternal thyroid autoimmunity associated with acute‐onset neuropsychiatric disorders and global regression in offspring HF Jones, ACC Ho, S Sharma, SS Mohammad, K Kothur, S Patel, F Brilot, ... Developmental Medicine & Child Neurology 61 (8), 984-988, 2019 | 16 | 2019 |
| Whole exome sequencing identifies the genetic basis of late-onset Leigh syndrome in a patient with MRI but little biochemical evidence of a mitochondrial disorder M Nafisinia, Y Guo, X Dang, J Li, Y Chen, J Zhang, NJ Lake, WA Gold, ... JIMD Reports, Volume 32, 117-124, 2017 | 16 | 2017 |
