Concepedia

Anna Kolesnik

AK

8

Publications

358

Citations

8

H-Index

2019

Active since

Affiliations

University of Cambridge(Current)

MRC Cognition and Brain Sciences Unit

Birkbeck, University of London

University of British Columbia

European Bioinformatics Institute

Anna Kolesnik is an author at University of Cambridge specializing in molecular diagnostics, medicine, and tumor biology.

ORCID

Top concepts

Publications per year

2019–2023

8

Publications

8

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 111 citations · Full text

Increased cortical reactivity to repeated tones at 8 months in infants with later ASD

Anna Kolesnik, Jannath Begum Ali, Teodora Gliga et al. · Translational Psychiatry · 2019 · 76 citations · Full text

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson et al. · Nature Communications · 2023 · 51 citations · Full text

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik et al. · Genetics in Medicine · 2022 · 41 citations · Full text

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Elizabeth J. Radford, H.K. Tan, Malin H. L. Andersson et al. · 2022 · 27 citations · Full text

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