Murdoch Childrens Research Institute

Research facility


Location: Melbourne, Australia (AU) AU

ISNI: 000000009442535X

ROR: https://ror.org/048fyec77

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article A Quality Assessment of the ARM-Net Registry Design and Data Collection. (2023) Hageman IC, van der Steeg HJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij IA, et al. Journal article Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics (2022) Haug M, Reischl B, Nübler S, Kiriaev L, Mázala DA, Houweling PJ, North KN, et al. Journal article, Original article In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (2022) Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, et al. Journal article Emerging technologies in paediatric laboratory medicine (2021) Mak C, Papassotiriou I, Zierk J, Kohse KP, Greaves RF, Geaghan SM, Lang T, Loh TP Journal article, Review article Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021) Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al. Journal article Cortical morphology at birth reflects spatiotemporal patterns of gene expression in the fetal human brain (2020) Ball G, Seidlitz J, O'Muircheartaigh J, Dimitrova R, Fenchel D, Makropoulos A, Christiaens D, et al. Journal article Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article