Complex I deficiency and Leigh syndrome through the eyes of a clinician by Karit Reinson, Katrin Õunap

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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases by Sander Pajusalu, Sander Pajusalu, Mari-Anne Vals, Mari-Anne Vals, Laura Mihkla, Laura Mihkla, Ustina Šamarina, Tiina Kahre, Tiina Kahre, Katrin Õunap, Katrin Õunap

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

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High incidence of low vitamin B12 levels in Estonian newborns by Karit Reinson, Kadi Künnapas, Annika Kriisa, Mari-Anne Vals, Kai Muru, Katrin Õunap

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The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records by Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap

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The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period by Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap

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Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene by Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap

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FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening by Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia by Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

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Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency by Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap

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

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

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

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

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Human skeletal myopathy myosin mutations disrupt myosin head sequestration by 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

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

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Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans by Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

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Can untreated PKU patients escape from intellectual disability? A systematic review by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder by Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

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