Publications by authors named "Michael Talkowski"

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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Michael E Talkowski

Am J Hum Genet· December 2025

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Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease.
Celina Nguyen, Emily H Broersma, Anna S Warden, Cristina Mora, Claudia Z Han, Michael E Talkowski

Nat Immunol· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Michael E Talkowski

Nature· November 2025

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Large-scale discovery of neural enhancers for cis-regulation therapies.
Troy A McDiarmid, Nicholas F Page, Florence M Chardon, Riza M Daza, George T Chen, Michael E Talkowski

bioRxiv· November 2025

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Common and rare variant genetic contributions in African Americans with autism.
Matilde Cirnigliaro, Jennifer K Lowe, Alexander O Flynn-Carroll, Michi E Kumagai, David S Gibson, Michael E Talkowski

medRxiv· November 2025

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Whole-blood transcriptomic analysis reveals preoperative complement inhibitor deficiencies linked to postoperative delirium.
Occam Kelly Graves, Jiayi Kang, Haobo Li, Serkan Erdin, Matthew Smith, Michael E Talkowski

Mol Psychiatry· October 2025

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Population-scale Long-read Sequencing in the Research Program.
Kiran V Garimella, Qiuhui Li, Julie Wertz, Samuel K Lee, Fabio Cunial, Michael E Talkowski

medRxiv· October 2025

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CRISPR-engineered deletion of alters transcription factor binding at promoters of genes involved in synaptic signaling.
Mariana Moyses-Oliveira, Yating Liu, Serkan Erdin, Dadi Gao, Riya Bhavsar, Michael E Talkowski

bioRxiv· October 2025

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Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
Rachita Yadav, Christine A Vaine, Aloysius Domingo, Siddharth Reed, Shivangi Shah, Michael E Talkowski

medRxiv· October 2025

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International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies.
Yassmine M N Akkari, Michael E Talkowski, Amy M Breman

Prenat Diagn· September 2025

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Author Correction: Complex genetic variation in nearly complete human genomes.
Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Michael E Talkowski

Nature· September 2025

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Complex genetic variation in nearly complete human genomes.
Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Michael E Talkowski

Nature· August 2025

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Search for a genetic cause of variably protease-sensitive prionopathy.
Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria

PLoS Pathog· August 2025

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Aberrant recursive splicing in a human disease locus.
Philip M Boone, Ricardo Harripaul, Rachita Yadav, Michael Grzybowski, Mahmoud K Hanafy, Michael E Talkowski

bioRxiv· August 2025

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Diversity and consequences of structural variation in the human genome.
Ryan L Collins, Michael E Talkowski

Nat Rev Genet· July 2025

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Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Mary Pat Reeve, Stephanie Loomis, Eija Nissilä, Thomas W Soare, Tobias Rausch, Michael E Talkowski

Nat Commun· July 2025

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is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Michael E Talkowski

bioRxiv· May 2025

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Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.
Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, Matthew Welland, Eleanor Spenceley, Michael Talkowski

bioRxiv· April 2025

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Search for a genetic cause of variably protease-sensitive prionopathy.
Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria

medRxiv· March 2025

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Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing.
Dahlia Rohm, Joshua B Black, Sean R McCutcheon, Alejandro Barrera, Shanté S Berry, Michael E Talkowski

Cell Genom· February 2025

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Rare germline structural variants increase risk for pediatric solid tumors.
Riaz Gillani, Ryan L Collins, Jett Crowdis, Amanda Garza, Jill K Jones, Michael E Talkowski

Science· January 2025

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Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
Marina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, Jack M Fu, Tess Levy, Michael E Talkowski

medRxiv· January 2025

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An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes.
Chong Li, Marc Jan Bonder, Sabriya Syed, Matthew Jensen, , Michael E Talkowski

Genome Res· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Michael E Talkowski

ArXiv· December 2024

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Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.
Suzanne M Musgrave, Juliet Taylor, Whitney Whitford, Alexandra Garton, Jessie Poquérusse, Michael E Talkowski

J R Soc N Z· September 2024

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