Stebėti
Ruth Braden
Ruth Braden
Patvirtintas el. paštas unimelb.edu.au
Pavadinimas
Cituota
Cituota
Metai
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
1132020
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
592019
The genetic and molecular basis of developmental language disorder: A review
HS Mountford, R Braden, DF Newbury, AT Morgan
Children 9 (5), 586, 2022
522022
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
412023
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
392021
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
302021
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
252023
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
252021
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
162019
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
142022
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
122021
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
62024
FOXP1 syndrome
G Rappold, P Siper, A Kostic, R Braden, A Morgan, S Koene, A Kolevzon
52023
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
42022
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
32024
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
22024
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
12024
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
12024
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
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Straipsniai 1–20