Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., … Weis, D. (2022). Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes, 13(1), 154. https://doi.org/10.3390/genes13010154
Authors:
Dóra Nagy
Sarah Verheyen
Kristen M Wigby
Artem Borovikov
Artem Sharkov
Valerie Slegesky
Austin Larson
Christina Fagerberg
Charlotte Brasch-Andersen
Maria Kibæk
Ingrid Bader
Rebecca Hernan
Frances A High
Wendy K Chung
Jolanda H Schieving
Jana Behunova
Mateja Smogavec
Franco Laccone
Martina Witsch-Baumgartner
Joachim Zobel
Hans-Christoph Duba
Denisa Weis
Affiliated Authors:
Rebecca Hernan
Wendy K Chung
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Genetic Association Studies (MeSH)
Mutation (MeSH)
Neurodevelopmental Disorders (MeSH)
Transposases (MeSH)
Author Keywords:
pogz gene
neurodevelopmental disorder
white-sutton syndrome
genotype-phenotype association
clinical scoring
deep facial gestalt analysis
nonsense-mediated rna decay
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Publication Type:
Article
Unique ID:
10.3390/genes13010154
PMID:
35052493
DOI:
10.3390/genes13010154
Journal:
Genes
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record
View Scopus Record
View Web of Science Record

Record Created: