Imperial College London


Faculty of MedicineDepartment of Brain Sciences

Professor of Neurology and Genomic Medicine



m.johnson Website




E419Burlington DanesHammersmith Campus






BibTex format

author = {Johnson, MR and Shkura, K and Langley, SR and Delahaye-Duriez, A and Srivastava, P and Hill, WD and Rackham, OJL and Davies, G and Harris, SE and Moreno-Moral, A and Rotival, M and Speed, D and Petrovski, S and Katz, A and Hayward, C and Porteous, DJ and Smith, BH and Padmanabhan, S and Hocking, LJ and Starr, JM and Liewald, DC and Visconti, A and Falchi, M and Bottolo, L and Rossetti, T and Danis, B and Mazzuferi, M and Foerch, P and Grote, A and Helmstaedter, C and Becker, AJ and Kaminski, RM and Deary, IJ and Petretto, E},
doi = {10.1038/nn.4205},
journal = {Nature Neuroscience},
pages = {223--232},
title = {Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease},
url = {},
volume = {19},
year = {2016}

RIS format (EndNote, RefMan)

AB - Genetic determinants of cognition are poorly characterized, and their relationship to genes that confer risk for neurodevelopmental disease is unclear. Here we performed a systems-level analysis of genome-wide gene expression data to infer gene-regulatory networks conserved across species and brain regions. Two of these networks, M1 and M3, showed replicable enrichment for common genetic variants underlying healthy human cognitive abilities, including memory. Using exome sequence data from 6,871 trios, we found that M3 genes were also enriched for mutations ascertained from patients with neurodevelopmental disease generally, and intellectual disability and epileptic encephalopathy in particular. M3 consists of 150 genes whose expression is tightly developmentally regulated, but which are collectively poorly annotated for known functional pathways. These results illustrate how systems-level analyses can reveal previously unappreciated relationships between neurodevelopmental disease–associated genes in the developed human brain, and provide empirical support for a convergent gene-regulatory network influencing cognition and neurodevelopmental disease.
AU - Johnson,MR
AU - Shkura,K
AU - Langley,SR
AU - Delahaye-Duriez,A
AU - Srivastava,P
AU - Hill,WD
AU - Rackham,OJL
AU - Davies,G
AU - Harris,SE
AU - Moreno-Moral,A
AU - Rotival,M
AU - Speed,D
AU - Petrovski,S
AU - Katz,A
AU - Hayward,C
AU - Porteous,DJ
AU - Smith,BH
AU - Padmanabhan,S
AU - Hocking,LJ
AU - Starr,JM
AU - Liewald,DC
AU - Visconti,A
AU - Falchi,M
AU - Bottolo,L
AU - Rossetti,T
AU - Danis,B
AU - Mazzuferi,M
AU - Foerch,P
AU - Grote,A
AU - Helmstaedter,C
AU - Becker,AJ
AU - Kaminski,RM
AU - Deary,IJ
AU - Petretto,E
DO - 10.1038/nn.4205
EP - 232
PY - 2016///
SN - 1546-1726
SP - 223
TI - Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
T2 - Nature Neuroscience
UR -
UR -
UR -
VL - 19
ER -