Strong association of de novo copy number mutations with autism

J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin… - Science, 2007 - science.org
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism
spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on …

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

…, GM Cooper, AS Nord, M Kusenda, D Malhotra… - science, 2008 - science.org
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain
elusive. We hypothesize that individually rare structural variants contribute to the illness. …

[HTML][HTML] CNVs: harbingers of a rare variant revolution in psychiatric genetics

D Malhotra, J Sebat - Cell, 2012 - cell.com
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …

[HTML][HTML] muscat detects subpopulation-specific state transitions from multi-sample multi-condition single-cell transcriptomics data

…, D Calini, L Collin, C Raposo, D Malhotra… - Nature …, 2020 - nature.com
Single-cell RNA sequencing (scRNA-seq) has become an empowering technology to
profile the transcriptomes of individual cells on a large scale. Early analyses of differential …

Altered human oligodendrocyte heterogeneity in multiple sclerosis

…, D Van Bruggen, KW Lee, I Knuesel, D Malhotra… - Nature, 2019 - nature.com
Oligodendrocyte pathology is increasingly implicated in neurodegenerative diseases as
oligodendrocytes both myelinate and provide metabolic support to axons. In multiple sclerosis (…

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

…, D Pinto, M Gujral, WM Brandler, D Malhotra… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …

Microduplications of 16p11. 2 are associated with schizophrenia

…, V Krause, RA Kumar, D Grozeva, D Malhotra… - Nature …, 2009 - nature.com
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …

[HTML][HTML] Whole-genome sequencing in autism identifies hot spots for de novo germline mutation

JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra… - Cell, 2012 - cell.com
De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

…, V Menon, P De Jager, D Malhotra - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

[PDF][PDF] High frequencies of de novo CNVs in bipolar disorder and schizophrenia

D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011 - cell.com
While it is known that rare copy-number variants (CNVs) contribute to risk for some neuropsychiatric
disorders, the role of CNVs in bipolar disorder is unclear. Here, we reasoned that a …