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List of works by Mandy Johnstone

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

scientific article published on 25 September 2013

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

scientific article

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

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

scholarly article published 14 March 2018

Bridging the translational divide: identical cognitive touchscreen testing in mice and humans carrying mutations in a disease-relevant homologous gene

scientific article

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

scientific article published on 7 October 2015

DISC1 in schizophrenia: genetic mouse models and human genomic imaging

scientific article

DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

scientific article published on 06 September 2018

Effects of a mis-sense DISC1 variant on brain activation in two cohorts at high risk of bipolar disorder or schizophrenia

scientific article published on 15 February 2012

Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction

scientific article published on 03 September 2019

Genetics of schizophrenia

scientific article

HippoCA3mpal Stem Cell Models Expose Dysfunctional Circuits in Schizophrenia

scientific article published on 01 May 2018

Localisation of Microtubule‐Associated Protein 1B Phosphorylation Sites Recognised by Monoclonal Antibody SMI‐31 ⬇️

scientific article published on October 1, 1997

Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.

scientific article published in October 2012

Phosphorylation of microtubule-associated protein IB and axonal growth.

scientific article published on February 1995

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

scientific article published on 22 August 2012

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging

Stem Cells to Inform the Neurobiology of Mental Illness

scientific article published on 01 January 2018

Synaptic scaffold evolution generated components of vertebrate cognitive complexity.

scientific article

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

scientific article published on 26 June 2017

The neurofilament antibody RT97 recognises a developmentally regulated phosphorylation epitope on microtubule‐associated protein 1B ⬇️

scientific article published on August 1, 1997

Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.

scientific article published in March 2018

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