Concepedia

Anna Sandestig

AS

Statistics

Publications

4

Citations

67

H-Index

4

Active since

2018

Affiliations

Linköping University Hospital(Current)

CeGaT (Germany)

Anna Sandestig is an author at Linköping University Hospital specializing in molecular genetics, developmental mutations, and neurogenetics.

Publications per year

2018–2024

4

Publications

4

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review

Anna Sandestig, Anna Gréen, Jon Jonasson et al. · Molecular Syndromology · 2018 · 19 citations · Full text

, , +15

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Anna Sandestig, Karolina Engström, Alexander Pepler et al. · Molecular Syndromology · 2019 · 18 citations · Full text

, , +17

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Jesper Eisfeldt, Adam Ameur, Felix Lenner et al. · Genome Research · 2024 · 17 citations · Full text

, , +17

A Novel <b><i>DLG3</i></b> Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by<b><i> DLG3</i></b> Nonsense Variants

Anna Sandestig, Anna Gréen, Johan Aronsson et al. · Molecular Syndromology · 2019 · 13 citations · Full text

, , +15

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