Katrin Ounap

2 L.Puusepa Street
Tartu, 51014, Estonia

Last Updated: 09/26/2026

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Found 174 publications

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Journal: Research square

Published: July 17, 2026

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Journal: European journal of medical genetics

Published: May 19, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

Journal: Neurology international

Published: March 10, 2026

Exploring the somatic mutational landscape of ovarian cancer in Estonia.

Exploring the somatic mutational landscape of ovarian cancer in Estonia.

Journal: Acta oncologica (Stockholm, Sweden)

Published: February 24, 2026

Harmonizing the genetic counselor profession in Europe.

Harmonizing the genetic counselor profession in Europe.

Journal: European journal of human genetics : EJHG

Published: February 23, 2026

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.

Journal: Frontiers in genetics

Published: February 20, 2026

Expanding the ABCA2-associated neurodevelopmental phenotype.

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.

Journal: Scientific reports

Published: November 14, 2025

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

Showing 1-12 of 174

Last Updated: 09/26/2026