Ania Fiksinski

Utrecht University — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.4kcitations42works1.62yr avg
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Research Topics

Congenital heart defects research(33), Congenital Heart Disease Studies(16), Coronary Artery Anomalies(12), Genetics and Neurodevelopmental Disorders(11), Genomic variations and chromosomal abnormalities(7)

Publications42 total

Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome
2025Open Access
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
Journal of Neurodevelopmental Disorders·2025Open Access
Harmonization of Transdiagnostic Psychiatric Phenotypes across Large Multi-Site Studies
SSRN Electronic Journal·2025Open Access
A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome
Journal of Intellectual Disability Research·2024· 2 citedOpen Access
Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
Human Brain Mapping·2024· 6 citedOpen Access
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Genetics in Medicine·2023· 82 citedOpen Access
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
Genetics in Medicine·2023· 81 citedOpen Access
A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome
Molecular Psychiatry·2022· 47 citedOpen Access
Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
Translational Psychiatry·2022· 9 citedOpen Access
Contributors
Elsevier eBooks·2022
Psychiatric profile in children and youth with 22q11.2 deletion syndrome
Elsevier eBooks·2022
Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression
Brain Behavior & Immunity - Health·2021· 10 citedOpen Access
TU64. UNTARGETED METABOLIC PROFILING IN DRIED BLOOD SPOTS REVEALS METABOLIC FINGERPRINT FOR 22Q11.2 DELETION SYNDROME
European Neuropsychopharmacology·2021
TU48. THE COMPLETE IQ PROFILE OVER THE LIFESPAN IN INDIVIDUALS WITH 22Q11DS AND ASSOCIATIONS WITH COMMON GENETIC VARIATION FOR IQ AND SCHIZOPHRENIA
European Neuropsychopharmacology·2021
Psychiatric phenotypes associated with hyperprolinemia: A systematic review
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2021· 29 citedOpen Access
A normative chart for cognitive development in a genetically selected population
Neuropsychopharmacology·2021· 24 citedOpen Access
Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
Current Psychiatry Reports·2021· 32 citedOpen Access
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model
Psychological Medicine·2021· 13 citedOpen Access
Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics
Cerebral Cortex·2021· 13 citedOpen Access
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants
American Journal of Psychiatry·2021· 96 citedOpen Access
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Frequent Co-authors

Jacob Vorstman(33), Donna M. McDonald‐McGinn(20), Anne S. Bassett(18), Carrie E. Bearden(17), Ann Swillen(16), Thérèse van Amelsvoort(15), Elemi Breetvelt(15), Raquel E. Gur(14), Marianne van den Bree(14), Michael J. Owen(13), Beverly S. Emanuel(13), Leila Kushan(12), Wendy R. Kates(12), Eva W.C. Chow(12), Erik Boot(12), Kieran C. Murphy(11), Gabriela M. Repetto(11), Maude Schneider(11), Clodagh M. Murphy(10), Nancy J. Butcher(10)