Ocular Manifestation of CACNA1A Pathogenic Variants

por Reinson, Karit, Õunap, Katrin
Publicado 2016

Complex I deficiency and Leigh syndrome through the eyes of a clinician

por Reinson, Karit, Õunap, Katrin
Publicado 2020

An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

por Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina
Publicado 2016

High incidence of low vitamin B12 levels in Estonian newborns

por Reinson, Karit, Künnapas, Kadi, Kriisa, Annika, Vals, Mari-Anne, Muru, Kai, Õunap, Katrin
Publicado 2018

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

por Pajusalu, Sander, Vals, Mari-Anne, Mihkla, Laura, Šamarina, Ustina, Kahre, Tiina, Õunap, Katrin
Publicado 2021

A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

por Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin
Publicado 2019

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

por Lilleväli, Hardo, Reinson, Karit, Muru, Kai, Saarsalu, Siret, Künnapas, Kadi, Kahre, Tiina, Murumets, Ülle, Õunap, Katrin
Publicado 2019

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period

por Tiivoja, Elis, Reinson, Karit, Muru, Kai, Rähn, Kristi, Muhu, Kristina, Mauring, Laura, Kahre, Tiina, Pajusalu, Sander, Õunap, Katrin
Publicado 2022

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021

por Roht, Laura, Tooming, Mikk, Rekker, Kadri, Roomere, Hanno, Toome, Kadri, Murumets, Ülle, Šamarina, Ustina, Õunap, Katrin, Kahre, Tiina
Publicado 2022

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

por Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, van Kuilenburg, André B.P., Dobritzsch, Doreen, Roelofsen, Jeroen, Stenzel, Werner, Õunap, Katrin
Publicado 2020

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

por Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, Murumets, Ülle, Õiglane-Shlik, Eve, Rein, Reet, Talvik, Inga, Rodenburg, Richard J., Õunap, Katrin
Publicado 2018

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

por Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin
Publicado 2019

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

por Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin
Publicado 2014

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

por Lilleväli, Hardo, Pajusalu, Sander, Wojcik, Monica H., Goodrich, Julia, Collins, Ryan L., Murumets, Ülle, Tammur, Pille, Blau, Nenad, Lilleväli, Kersti, Õunap, Katrin
Publicado 2020

Recommendations for reporting results of diagnostic genomic testing

por Deans, Zandra C., Ahn, Joo Wook, Carreira, Isabel M., Dequeker, Elisabeth, Henderson, Mick, Lovrecic, Luca, Õunap, Katrin, Tabiner, Melody, Treacy, Rebecca, van Asperen, Christi J.
Publicado 2022

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

por Pravata, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., van Aalten, Daan M. F.
Publicado 2019

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

por Ridnõi, Konstantin, Muru, Kai, Keernik, Maria, Pajusalu, Sander, Ustav, Eva‐Liina, Tammur, Pille, Mölter‐Väär, Triin, Kahre, Tiina, Šamarina, Ustina, Asser, Karin, Szirko, Ferenc, Reimand, Tiia, Õunap, Katrin
Publicado 2021

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

por Sarv, Siiri, Kahre, Tiina, Vaidla, Eve, Pajusalu, Sander, Muru, Kai, Põder, Haide, Gross-Paju, Katrin, Ütt, Sandra, Žordania, Riina, Talvik, Inga, Õiglane-Shlik, Eve, Muhu, Kristina, Õunap, Katrin
Publicado 2021

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

por Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva
Publicado 2020

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

por Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Publicado 2023