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

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

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction

por Ilves, Norman, Pajusalu, Sander, Kahre, Tiina, Laugesaar, Rael, Šamarina, Ustina, Loorits, Dagmar, Kool, Pille, Ilves, Pilvi
Publicado 2023

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study

por Lace, Baiba, Pajusalu, Sander, Livcane, Diana, Grinfelde, Ieva, Akota, Ilze, Mauliņa, Ieva, Barkāne, Biruta, Stavusis, Janis, Inashkina, Inna
Publicado 2022

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

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

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

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

Case Report: Two Families With HPDL Related Neurodegeneration

por Micule, Ieva, Lace, Baiba, Wright, Nathan T., Chrestian, Nicolas, Strautmanis, Jurgis, Diriks, Mikus, Stavusis, Janis, Kidere, Dita, Kleina, Elfa, Zdanovica, Anna, Laflamme, Nataly, Rioux, Nadie, Setty, Samarth Thonta, Pajusalu, Sander, Droit, Arnaud, Lek, Monkol, Rivest, Serge, Inashkina, Inna
Publicado 2022

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population

por Roht, Laura, Laidre, Piret, Tooming, Mikk, Tõnisson, Neeme, Nõukas, Margit, Nurm, Miriam, Roomere, Hanno, Rekker, Kadri, Toome, Kadri, Fjodorova, Olga, Murumets, Ülle, Šamarina, Ustina, Pajusalu, Sander, Aaspõllu, Anu, Salumäe, Liis, Muhu, Kristina, Soplepmann, Jaan, Õunap, Katrin, Kahre, Tiina
Publicado 2023

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy

por Oja, Kaisa Teele, Ilisson, Mihkel, Reinson, Karit, Muru, Kai, Reimand, Tiia, Peterson, Hedi, Fishman, Dmytro, Esko, Tõnu, Haller, Toomas, Kronberg, Jaanika, Wojcik, Monica H., Kennedy, Adam, Michelotti, Gregory, O’Donnell-Luria, Anne, Õiglane-Šlik, Eve, Pajusalu, Sander, Õunap, Katrin
Publicado 2023

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

por Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Monkol, Chung, Brian H. Y.
Publicado 2020

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

por Linders, Peter T. A., Gerretsen, Eveline C. F., Ashikov, Angel, Vals, Mari-Anne, de Boer, Rinse, Revelo, Natalia H., Arts, Richard, Baerenfaenger, Melissa, Zijlstra, Fokje, Huijben, Karin, Raymond, Kimiyo, Muru, Kai, Fjodorova, Olga, Pajusalu, Sander, Õunap, Katrin, ter Beest, Martin, Lefeber, Dirk, van den Bogaart, Geert
Publicado 2021

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

por Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg F., Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard J., Safiulina, Dzhamilja, Strom, Tim M., Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias B., Õunap, Katrin
Publicado 2018

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

por Janssen, Beau D. E., van den Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., van Gassen, Koen, van Jaarsveld, Richard H.
Publicado 2022