Katrin Õunap - Genetic Mutations

Author Information

Katrin Õunap is affiliated with the Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia. She has made significant contributions to the field of genetics, particularly in diagnostic genomic testing and understanding the genetic basis of developmental disorders.

Research Contributions

Katrin Õunap's research spans a variety of crucial areas within genetics. Her recent work includes recommendations for reporting results of diagnostic genomic testing and insights into coding and noncoding genomic features associated with developmental disorders. She has also focused on the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies. Her studies on loss-of-function and missense variants in NSD2, clustered mutations in the GRIK2 kainate receptor subunit gene, and pathogenic variants in JAG2 have provided valuable insights into neurodevelopmental disorders and muscular dystrophy. Additionally, her research on de novo monoallelic DDB1 variants and congenital disorders of glycosylation highlights her contributions to understanding rare genetic conditions.

Aliases

Katrin Õunap is also known by several other names, including Katrin Ounap, K Ounap, K Õunap, and Katrin Őunap.

Publication and Citation Metrics

Metric	Value
Citation Count	6418
h-index	40
Paper Count	199

Publications:

Recommendations for reporting results of diagnostic genomic testing.

DOI: 10.1038/s41431-022-01091-0

Year: 2022

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

DOI: 10.1101/2022.02.15.22270795

Year: 2022

A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

DOI: 10.1002/mgg3.1787

Year: 2021

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

DOI: 10.1038/s41436-021-01158-1

Year: 2021

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

DOI: 10.1016/j.ajhg.2021.07.007

Year: 2021

A form of muscular dystrophy associated with pathogenic variants in JAG2.

DOI: 10.1016/j.ajhg.2021.04.018

Year: 2021

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

DOI: 10.1126/sciadv.abe2116

Year: 2021

More than a fancy exome: unique capabilities of genome sequencing for pediatric rare disease diagnosis

DOI: 10.1016/S1096-7192(21)00217-1

Year: 2021

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

DOI: 10.1016/j.ajhg.2021.03.007

Year: 2021

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

DOI: 10.1038/s41467-021-26534-y

Year: 2021

What Are the Applications of Studying Nucleotide Mutations?

How can Autosomal Recessive Disorders be Prevented?

What Are the Types of Genetic Mutations?

What is the Prognosis for Individuals with Cystic Fibrosis?

Can the body repair PAH-induced DNA damage?

Can Genetic Mutations Be Inherited?

What Preventive Measures Can Be Taken?

What Genetic Mutations Affect Hemoglobin?

What Types of Mutations Are Induced by UV Radiation?

What Are the Effects of Insertion Mutations?

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