Malhotra, Dheeraj

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Trubetskoy, V., Pardiñas, A. F., Qi, T., Panagiotaropoulou, G., Awasthi, S., Bigdeli, T. B., Bryois, J., Chen, C.-Y., Dennison, C. A., Hall, L. S., et al. (2022) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 2,964

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 2,795

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,800

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

Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,058

Altered human oligodendrocyte heterogeneity in multiple sclerosis

Jäkel, S., Agirre, E., Mendanha Falcão, A., van Bruggen, D., Lee, K. W., Knuesel, I., Malhotra, D., ffrench-Constant, C., Williams, A., & Castelo-Branco, G. (2019) · Nature

Multiple Sclerosis Research StudiesSingle-cell and spatial transcriptomics

Cited by 854

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 854

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 711

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 544

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

Crowell, H. L., Soneson, C., Germain, P.-L., Calini, D., Collin, L., Raposo, C., Malhotra, D., & Robinson, M. D. (2020) · Nature Communications

Single-cell and spatial transcriptomicsGene expression and cancer classification

Cited by 515

Progress in Understanding and Treating SCN2A-Mediated Disorders

Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., et al. (2018) · Trends in Neurosciences

Epilepsy research and treatmentIon channel regulation and function

Cited by 338

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 337

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesBipolar Disorder and Treatment

Cited by 325

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

Bryois, J., Calini, D., Macnair, W., Foo, L., Urich, E., Ortmann, W., Iglesias, V. A., Selvaraj, S., Nutma, E., Marzin, M., et al. (2022) · Nature Neuroscience

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 311

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Corominas, R., Yang, X., Lin, G. N., Kang, S., Shen, Y., Ghamsari, L., Broly, M., Rodriguez, M., Tam, S., Wanamaker, S. A., et al. (2014) · Nature Communications

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 140

Frequency and complexity of de novo structural mutation in autism

Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 104

Epigenomic priming of immune genes implicates oligodendroglia in multiple sclerosis susceptibility

Meijer, M., Agirre, E., Kabbe, M., van Tuijn, C. A., Heskol, A., Zheng, C., Mendanha Falcão, A., Bartosovic, M., Kirby, L., Calini, D., et al. (2022) · Neuron

Multiple Sclerosis Research StudiesGenomics and Chromatin Dynamics

Cited by 98

Tau Pathology Drives Dementia Risk-Associated Gene Networks toward Chronic Inflammatory States and Immunosuppression

Rexach, J. E., Polioudakis, D., Yin, A., Swarup, V., Chang, T. S., Nguyen, T., Sarkar, A., Chen, L., Huang, J., Lin, L.-C., et al. (2020) · Cell Reports

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 94

snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses

Macnair, W., Calini, D., Agirre, E., Bryois, J., Jäkel, S., Smith, R. S., Kukanja, P., Stokar-Regenscheit, N., Ott, V., Foo, L. C., et al. (2025) · Neuron

Multiple Sclerosis Research StudiesSingle-cell and spatial transcriptomics

Cited by 88

A structured evaluation of cryopreservation in generating single-cell transcriptomes from cerebrospinal fluid

Touil, H., Roostaei, T., Calini, D., Diaconu, C., Epstein, S., Raposo, C., Onomichi, K., Thakur, K. T., Craveiro, L., Callegari, I., et al. (2023) · Cell Reports Methods

Single-cell and spatial transcriptomicsGenomics and Phylogenetic Studies

Cited by 14