Bibliotecas PUC-SP - Busca Integrada

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

door Karit Reinson, Katrin Õunap
Gepubliceerd in EMBO Molecular Medicine (2020-10-01)

Ocular Manifestation of CACNA1A Pathogenic Variants

door Karit Reinson, Katrin Õunap
Gepubliceerd in Pediatric Neurology Briefs (2016-12-01)

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

door Sander Pajusalu, Sander Pajusalu, Mari-Anne Vals, Mari-Anne Vals, Laura Mihkla, Laura Mihkla, Ustina Šamarina, Tiina Kahre, Tiina Kahre, Katrin Õunap, Katrin Õunap
Gepubliceerd in Frontiers in Genetics (2021-08-01)

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

door Laura Roht, Laura Roht, Mikk Tooming, Mikk Tooming, Kadri Rekker, Hanno Roomere, Kadri Toome, Ülle Murumets, Ustina Šamarina, Katrin Õunap, Katrin Õunap, Tiina Kahre, Tiina Kahre
Gepubliceerd in Frontiers in Genetics (2022-11-01)

High incidence of low vitamin B12 levels in Estonian newborns

door Karit Reinson, Kadi Künnapas, Annika Kriisa, Mari-Anne Vals, Kai Muru, Katrin Õunap
Gepubliceerd in Molecular Genetics and Metabolism Reports (2018-06-01)

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

door Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Gepubliceerd in Molecular Genetics and Metabolism Reports (2019-06-01)

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

door Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
Gepubliceerd in JIMD Reports (2022-11-01)

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

door Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap
Gepubliceerd in Molecular Genetics and Metabolism Reports (2020-12-01)

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

door Siiri Sarv, Tiina Kahre, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Sander Pajusalu, Kai Muru, Kai Muru, Haide Põder, Katrin Gross-Paju, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap, Katrin Õunap
Gepubliceerd in Frontiers in Genetics (2021-12-01)

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

door Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Gepubliceerd in Molecular Genetics and Metabolism Reports (2018-06-01)

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

door Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap
Gepubliceerd in Molecular Genetics & Genomic Medicine (2019-09-01)

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

door Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Gepubliceerd in Molecular Genetics & Genomic Medicine (2020-04-01)

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

door Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva‐Liina Ustav, Pille Tammur, Triin Mölter‐Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap
Gepubliceerd in Molecular Genetics & Genomic Medicine (2021-10-01)

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

door Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap
Gepubliceerd in Molecular Genetics & Genomic Medicine (2023-06-01)

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts

door Kaisa T. Oja, Kaisa T. Oja, Mihkel Ilisson, Mihkel Ilisson, Karit Reinson, Karit Reinson, Kai Muru, Kai Muru, Tiia Reimand, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Dmytro Fishman, Toomas Haller, Jaanika Kronberg, Estonian Biobank Research Team, Monica H. Wojcik, Monica H. Wojcik, Monica H. Wojcik, Adam D. Kennedy, Laura Sommerville, Gregory Michelotti, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Eve Õiglane-Shlik, Eve Õiglane-Shlik, Sander Pajusalu, Sander Pajusalu, Katrin Õunap, Katrin Õunap
Gepubliceerd in Frontiers in Neurology (2025-12-01)

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

door Hannes Jürgens, Hannes Jürgens, Laura Roht, Laura Roht, Liis Leitsalu, Margit Nõukas, Marili Palover, Tiit Nikopensius, Anu Reigo, Mart Kals, Mart Kals, Kersti Kallak, Kersti Kallak, Riina Kütner, Kai Budrikas, Saskia Kuusk, Saskia Kuusk, Vahur Valvere, Piret Laidre, Kadri Toome, Kadri Rekker, Mikk Tooming, Mikk Tooming, Ülle Murumets, Tiina Kahre, Tiina Kahre, Krista Kruuv-Käo, Krista Kruuv-Käo, Katrin Õunap, Katrin Õunap, Peeter Padrik, Peeter Padrik, Peeter Padrik, Andres Metspalu, Tõnu Esko, Krista Fischer, Krista Fischer, Neeme Tõnisson, Neeme Tõnisson
Gepubliceerd in Frontiers in Genetics (2022-07-01)

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

door Laura Roht, Piret Laidre, Mikk Tooming, Neeme Tõnisson, Margit Nõukas, Miriam Nurm, Estonian Biobank Research Team, Hanno Roomere, Kadri Rekker, Kadri Toome, Olga Fjodorova, Ülle Murumets, Ustina Šamarina, Sander Pajusalu, Anu Aaspõllu, Liis Salumäe, Kristina Muhu, Jaan Soplepmann, Katrin Õunap, Tiina Kahre
Gepubliceerd in Cancers (2023-07-01)

Human skeletal myopathy myosin mutations disrupt myosin head sequestration

door Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Gepubliceerd in JCI Insight (2023-11-01)

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

door Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart
Gepubliceerd in Nature Communications (2021-10-01)

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

door Weixiong He, Peter J. van der Most, Jue-Sheng Ong, Liang-Dar Hwang, Yeda Wu, Morten S. Magnø, Jelle Vehof, Kristi Krebs, Laura Mauring, Katrin Õunap, Erik Abner, Nicholas G. Martin, Denis Plotnikov, Chen Jiang, Ronald B. Melles, Puya Gharahkhani, Harold Snieder, Teele Palumaa, Kuldar Kaljurand, Jeremy A. Guggenheim, David A. Mackey, Elizabeth C. Engle, Hélène Choquet, Lifelines Cohort Study, Stuart MacGregor
Gepubliceerd in Nature Communications (2025-08-01)