Michael J Bamshad

63PUBLICATIONS

512CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsData qualityComputing educationGene expression (incl. microarray and other genome-wide approaches)

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Publications (63)

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|Jul 01, 2026

Harmonizing standards and resources for the medical genome.

|Jun 22, 2026

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.

|Jun 04, 2026

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

|Sep 05, 2025

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

D I Ritter, M Mandell, C Preston

|May 29, 2025

Predicting expression-altering promoter mutations with deep learning.

Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky

|May 26, 2025

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.

Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan

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Frequent Collaborators

12 joint publications

Anne O'Donnell-Luria

Steven M Harrison

Mark J Daly

Benjamin M Neale

Konrad J Karczewski

Sami S Amr

Ahmad N Abou Tayoun

Daniel G MacArthur

Ben Weisburd

Alicia R Martin

Frequent Collaborators

12 joint publications

Anne O'Donnell-Luria

9 joint publications

Steven M Harrison

7 joint publications

Mark J Daly

6 joint publications

Benjamin M Neale