The paper investigates the impact of a t(1;11) translocation on white matter integrity and oligodendrocyte-myelin function using DTI and cellular models.

24 citations

humanimaging

NeuroscienceTranslational PsychiatryPeer-reviewedSep 6, 2018

DISC1 regulates N-Methyl-D-Aspartate receptor dynamics: Abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

Elise L.V. Malavasi, Kyriakos D. Economides, Ellen Grünewald…·J. Kirsty Millar

This study shows that a DISC1 mutation linked to mental illness disrupts NMDAR dynamics and synaptic function in neurons, affecting excitatory synapses and vesicle dynamics.

26 citations

mousehuman

GeneticsbioRxivPreprintMar 14, 2018

Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for Major Depressive Disorder and thalamic radiation white matter microstructure in UK Biobank

Miruna C. Barbu, Yanni Zeng, Xueyi Shen…·Heather Clare Whalley

This study examines the association between polygenic risk scores for Major Depressive Disorder derived from the NETRIN1 pathway and whole-genome variants with white matter microstructure in the UK Biobank.

3 citations

humanbulk RNA-seq

GenomicsbioRxivJan 12, 2016

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja I. Kurki, David Curtis…·Carmel Moo

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.

DOI 10.1038/nn.4267

humanwhole-exome sequencing