Michael Talkowski

47PUBLICATIONS

431CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Data qualityGenome structure and regulationAnthropological geneticsPsychology of ageing

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Publications (47)

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|Jul 08, 2026

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

|Jun 04, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|Jun 04, 2026

Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease.

|Mar 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Philip M Boone, Serkan Erdin, Abucar Mohamed

|Feb 12, 2026

Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis.

Huilin Xu, Tiziana Petrozziello, Adel Boudi

|Dec 03, 2025

Common and rare variant genetic contributions in African Americans with autism.

Matilde Cirnigliaro, Jennifer K Lowe, Alexander O Flynn-Carroll

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Frequent Collaborators

11 joint publications

Ryan L Collins

Benjamin M Neale

Anne O'Donnell-Luria

Konrad J Karczewski

Daniel G MacArthur

Evan E Eichler

Jessica Alföldi

Laurent C Francioli

Kaitlin E Samocha

Xuefang Zhao

Frequent Collaborators

11 joint publications

Ryan L Collins

9 joint publications

Benjamin M Neale

8 joint publications

Anne O'Donnell-Luria

8 joint publications

Konrad J Karczewski