Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, ... Neurology 94 (20), e2148-e2167, 2020 | 113 | 2020 |
Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response JL Johnson, L Stoica, Y Liu, PJ Zhu, A Bhattacharya, SA Buffington, ... Neuron 104 (4), 665-679. e8, 2019 | 59 | 2019 |
The genetic and molecular basis of developmental language disorder: A review HS Mountford, R Braden, DF Newbury, AT Morgan Children 9 (5), 586, 2022 | 52 | 2022 |
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development A Kaspi, MS Hildebrand, VE Jackson, R Braden, O Van Reyk, T Howell, ... Molecular psychiatry 28 (4), 1647-1663, 2023 | 41 | 2023 |
Speech and language deficits are central to SETBP1 haploinsufficiency disorder A Morgan, R Braden, MMK Wong, E Colin, D Amor, F Liégeois, ... European Journal of Human Genetics 29 (8), 1216-1225, 2021 | 39 | 2021 |
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder RO Braden, DJ Amor, SE Fisher, C Mei, CT Myers, H Mefford, D Gill, ... Developmental Medicine & Child Neurology 63 (12), 1417-1426, 2021 | 30 | 2021 |
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 LD Morison, E Meffert, M Stampfer, I Steiner-Wilke, B Vollmer, K Schulze, ... Journal of medical genetics 60 (6), 597-607, 2023 | 25 | 2023 |
Clinical delineation of SETBP1 haploinsufficiency disorder NA Jansen, RO Braden, S Srivastava, EF Otness, G Lesca, M Rossi, ... European Journal of Human Genetics 29 (8), 1198-1205, 2021 | 25 | 2021 |
Speech and language in bilateral perisylvian polymicrogyria: a systematic review RO Braden, RJ Leventer, A Jansen, IE Scheffer, AT Morgan Developmental Medicine & Child Neurology 61 (10), 1145-1152, 2019 | 16 | 2019 |
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments LD Morison, RO Braden, DJ Amor, A Brignell, BWM van Bon, AT Morgan European Journal of Human Genetics 30 (7), 800-811, 2022 | 14 | 2022 |
Speech, language, and oromotor skills in patients with polymicrogyria RO Braden, JO Boyce, CA Stutterd, K Pope, H Goel, RJ Leventer, ... Neurology 96 (14), e1898-e1912, 2021 | 12 | 2021 |
Self-reported stuttering severity is accurate: Informing methods for large-scale data collection in stuttering S Horton, V Jackson, J Boyce, MC Franken, S Siemers, MS John, ... Journal of Speech, Language, and Hearing Research 67 (10S), 4015-4024, 2024 | 6 | 2024 |
FOXP1 syndrome G Rappold, P Siper, A Kostic, R Braden, A Morgan, S Koene, A Kolevzon | 5 | 2023 |
SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental … MMK Wong, RA Kampen, RO Braden, G Alagöz, MS Hildebrand, ... medRxiv, 2022.03. 04.22271462, 2022 | 4 | 2022 |
The value of genomic testing in severe childhood speech disorders Y Meng, S Best, DJ Amor, R Braden, AT Morgan, I Goranitis European Journal of Human Genetics 32 (4), 440-447, 2024 | 3 | 2024 |
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals S Koene, FG Ropers, J Wieland, T Rybak, F Wildschut, D Berghuis, ... Journal of Medical Genetics 61 (4), 399-404, 2024 | 2 | 2024 |
Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals AC Britten-Jones, LN Ayton, K Graydon, JO Boyce, R Braden, R Dawkins, ... Journal of Multidisciplinary Healthcare, 1755-1768, 2024 | 1 | 2024 |
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder MS Hildebrand, RO Braden, ML Lauretta, A Kaspi, RJ Leventer, ... Neurology: Genetics 10 (5), e200181, 2024 | 1 | 2024 |
Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders EK Baker, M St John, R Braden, LD Morison, EJ Forbes, F Lelik, ... Developmental Medicine & Child Neurology, 2025 | | 2025 |
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease LD Morison, IT Whiteman, AP Vogel, L Tilbrook, MC Fahey, R Braden, ... Journal of Inherited Metabolic Disease 48 (1), e12838, 2025 | | 2025 |