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Unpublished / Preprint

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Abstract

Journal

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 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016) Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al. Journal article Speed of shortening is not altered in the alpha-actinin-3 (ACTN3) 'gene of speed' knock-out mutation in fast-twitch skeletal muscle (2015) Wagner S, Chan S, Murphy R, Houweling P, Quinlan K, North K, Head S, Friedrich O Conference contribution Altered Ca2+ Kinetics Associated with alpha-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution (2015) Head SI, Chan S, Houweling PJ, Quinlan KGR, Murphy R, Wagner S, Friedrich O, North KN Journal article
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