Michael Talkowski

52PUBLICATIONS
457CO-AUTHORS
Phylogeny and comparative analysisNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Forensic epidemiologyNeurology and neuromuscular diseases
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Publications (52)

|Oct 20, 2026
The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality.

|Oct 10, 2026
Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

|Sep 24, 2026
Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease.

|Sep 12, 2026
Contribution of copy number variants to schizophrenia in East Asian populations.

|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.

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Frequent Collaborators

11 joint publications

Ryan L Collins

11 joint publications

Benjamin M Neale

9 joint publications

Anne O'Donnell-Luria

8 joint publications

Konrad J Karczewski