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Shamil Sunyaev

35PUBLICATIONS
327CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsNeurogenetics
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Journal

Publications (35)

Sort by Publication Date:
|Jun 22, 2026
Inference of elevated mutation rates and variant effects using 700k exomes.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Feb 12, 2026
Farm animal evolution demonstrates hidden molecular basis of human traits.

Noah J Connally, Shamil Sunyaev

|Dec 09, 2025
Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.

Ryan J McGinty, Daniel J Balick, Sergei M Mirkin

|Oct 08, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.

Vladimir Seplyarskiy, Mikhail A Moldovan, Evan Koch

|Aug 06, 2025
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers

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Frequent Collaborators

7 joint publications

Vladimir Seplyarskiy

4 joint publications

Mikhail A Moldovan

4 joint publications

Evan M Koch

3 joint publications

Ryan J McGinty

3 joint publications

Stephen S Rich

3 joint publications

Prathitha Kar

3 joint publications

Donate Weghorn

2 joint publications

Nicholette D Palmer

2 joint publications

Eliezer M Van Allen

2 joint publications

Adolfo Correa

Frequent Collaborators

7 joint publications

Vladimir Seplyarskiy

4 joint publications

Mikhail A Moldovan

4 joint publications

Evan M Koch

3 joint publications

Ryan J McGinty