Talkowski, Michael E.

Chromatin alternates between A and B compartments at kilobase scale for subgenic organization

Harris, H. L., Gu, H., Olshansky, M., Wang, A., Farabella, I., Eliaz, Y., Kalluchi, A., Krishna, A., Jacobs, M., Cauer, G., et al. (2023) · Nature Communications

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

Mansour, H. A., Talkowski, M. E., Wood, J., Chowdari, K. V., McClain, L., Prasad, K., Montrose, D., Fagiolini, A., Friedman, E. S., Allen, M. H., et al. (2009) · Bipolar Disorders

Bipolar Disorder and TreatmentCircadian rhythm and melatonin

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Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., et al. (2014) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

The female protective effect against autism spectrum disorder

Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2021) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

The female protective effect against autism spectrum disorder

Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2022) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 107

Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes

Talkowski, M. E., Minikel, E. V., & Gusella, J. F. (2014) · Harvard Review of Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 72

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Arbogast, T., Razaz, P., Ellegood, J., McKinstry, S. U., Erdin, S., Currall, B., Aneichyk, T., Lerch, J. P., Qiu, L. R., Rodriguiz, R. M., et al. (2019) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 52

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing

Veres, A., Gosis, B. S., Ding, Q., Collins, R., Ragavendran, A., Brand, H., Erdin, S., Cowan, C. A., Talkowski, M. E., & Musunuru, K. (2014) · Cell stem cell

CRISPR and Genetic EngineeringRNA regulation and disease

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WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4

Hennig, K. M., Fass, D. M., Zhao, W.-N., Sheridan, S. D., Fu, T., Erdin, S., Stortchevoi, A., Lucente, D., Cody, J. D., Sweetser, D., et al. (2017) · Complex Psychiatry

Genetics and Neurodevelopmental DisordersWnt/β-catenin signaling in development and cancer

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The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

Liao, C., Ye, R., Ivankovic, F., Fu, J. M., Walters, R., Lowther, C., Valkanas, E., Churchhouse, C., Samocha, K. E., Lindblad-Toh, K., et al. (2026) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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