Concepedia

Alexandra D. Gurzau

AD

Statistics

Publications

5

Citations

292

H-Index

5

Active since

2017

Affiliations

Walter and Eliza Hall Institute of Medical Research(Current)

The University of Melbourne

Agency for Science, Technology and Research

National University of Singapore

Institute of Molecular and Cell Biology

Alexandra D. Gurzau is an author at Walter and Eliza Hall Institute of Medical Research specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2017–2023

5

Publications

5

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 135 citations · Full text

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SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite

Camille Dion, Stéphane Roche, Camille Laberthonnìère et al. · Nucleic Acids Research · 2019 · 60 citations · Full text

, , +17

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

Alexandra D. Gurzau, Kelan Chen, Shifeng Xue et al. · Journal of Biological Chemistry · 2018 · 48 citations · Full text

, , +3

Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid–binding residues

Kelan Chen, Richard W. Birkinshaw, Alexandra D. Gurzau et al. · Science Signaling · 2020 · 29 citations

, , +8

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

Andrés Tapia del Fierro, Bianca den Hamer, Natalia Benetti et al. · Nature Communications · 2023 · 20 citations · Full text

, , +17

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