Michael Talkowski

Professor

Massachusetts General Hospital

United States

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Michael Talkowski is a Professor at Massachusetts General Hospital in the United States. His research focuses on the genetics of neurological disorders, including autism and psychosis, as well as the structural variation in the human genome. Recent publications highlight his work on CRISPR-based epigenome editing, pediatric solid tumors, and the functional impact of genomic variants in various disorders.

Articles (10)

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2025

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2025

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2025

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2025

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2025

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2024

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2024

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2024

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2024

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2024

Collaborators (10)

Ruth Loos

Københavns Universitet

DENMARK

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Philip Empey

University of Pittsburgh

UNITED STATES

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Tiinamaija Tuomi

University of Helsinki

FINLAND

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Maltesh Kambali

University of Illinois Urbana–Champaign

UNITED STATES

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Martti Färkkilä

University of Helsinki

FINLAND

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Elizabeth Atkinson

Assistant Professor

Baylor College of Medicine

UNITED STATES

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Nell Maltman

Assistant Professor

University of Arizona

UNITED STATES

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Patricia Maciel

Associate Professor

University of Minho

PORTUGAL

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Tobias Marschall

Heinrich Heine University Düsseldorf

GERMANY

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Nadejda Tsankova

Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Michael Talkowski

Research Interests

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About

Articles (10)

Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing

Contribution of autosomal rare and de novo variants to sex differences in autism

Diversity and consequences of structural variation in the human genome

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Rare germline structural variants increase risk for pediatric solid tumors

A genomic mutational constraint map using variation in 76,156 human genomes

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Collaborators (10)

Ruth Loos

Philip Empey

Tiinamaija Tuomi

Maltesh Kambali

Martti Färkkilä

Elizabeth Atkinson

Nell Maltman

Patricia Maciel

Tobias Marschall

Nadejda Tsankova

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