Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
2020 · Nature Medicine · 145 citations
https://doi.org/10.1038/s41591-020-1103-1
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Ania Fiksinski
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Ania Fiksinski is an academic researcher from Utrecht University. The author has contributed to research in topics: Congenital heart defects research & Congenital Heart Disease Studies & Coronary Artery Anomalies. The author has an h-index of 18, co-authored 36 publications.
ORCID: 0000-0002-8169-7721Papers by this author
worksUpdated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
2023 · Genetics in Medicine · 82 citations
https://doi.org/10.1016/j.gim.2022.11.012
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome
2018 · Schizophrenia Research · 26 citations
https://doi.org/10.1016/j.schres.2018.07.044
Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression
2021 · Brain Behavior & Immunity - Health · 11 citations
https://doi.org/10.1016/j.bbih.2021.100386
The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance
2025 · Journal of Neurodevelopmental Disorders · 0 citations
https://doi.org/10.1186/s11689-025-09644-2
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