Author

Shanshan Chow

National Institutes of Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alan KádekiD· 1 shared Aleš Hnı́zdaiD· 1 shared Andrea GřegořováiD· 1 shared Antonio VitobelloiD· 1 shared Ariadna Bada-NavarroiD· 1 shared Beatriz BaladróniD· 1 shared Beatriz Martínez–DelgadoiD· 1 shared Bekim SadikovićiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alan KádekORCID

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1 paper

Recent·Most cited

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce, Javier Alonso, Jeanne Amiel, Tania Attié‐Bitach, Ariadna Bada-Navarro, Beatriz Baladrón, Eva Bermejo, Vítězslav Brinsa, Ivana Buková, Rosario Cazorla-Calleja, Sylvie Cervenkova, Shanshan Chow, Petr Dušek, , Lenka Nosková

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

Nature Communications · Jul 1, 2026Peer-reviewedGenetics