Michael Talkowski

48PUBLICATIONS
433CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Data qualityGenome structure and regulationAnthropological genetics
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Publications (48)

|Aug 20, 2026
Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism.

|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

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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