The natural history of classic galactosemia: lessons from the GalNet registry by Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P, Berry, G T

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Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene by Mauring, L, Puusepp, S, Parik, M, Roomets, E, Teek, R, Reimand, T, Pajusalu, S, Kaljurand, K, Õunap, K

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Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases by Pajusalu, S., Kahre, T., Roomere, H., Murumets, Ü., Roht, L., Simenson, K., Reimand, T., Õunap, K.

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Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control by Krabbi, K., Uudelepp, M.-L., Joost, K., Zordania, R., Õunap, K.

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The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation by Puusepp, H., Kall, K., Salomons, G. S., Talvik, I., Männamaa, M., Rein, R., Jakobs, C., Õunap, K.

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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients by Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K

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Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families by Žilina, O., Reimand, T., Zjablovskaja, P., Männik, K., Männamaa, M., Traat, A., Puusepp-Benazzouz, H., Kurg, A., Õunap, K.

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PP12.11 – 2550: Atypical forms of 4H leukodystrophy by Cayami, F, LaPiana, R, Õunap, K, Pajusalu, S, Prokisch, H, Wassmer, E, Timmann, D, Tran, L.T, Guerrero, K, Atik, T, Onay, H, Özkinay, F, Haack, T, Klopstock, T, Karin, I, van Spaendonk, R.M.L, van der Knaap, M.S, Bernard, G, Wolf, N.I

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A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene by Muru, K., Kalev, I., Teek, R., Sõnajalg, M., Kuuse, K., Reimand, T., Õunap, K.

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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children by Joost, K., Rodenburg, R.J., Piirsoo, A., van den Heuvel, L., Žordania, R., Põder, H., Talvik, I., Kilk, K., Soomets, U., Õunap, K.

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Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency by Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.

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Functional fine-mapping of coronary artery disease risk variants identified by single-cell profiling of accessible chromatin in human atherosclerotic lesions by Örd, T., Õunap, K., Stolze, L.K., Nurminen, V., Aherrahrou, R., Toropainen, A., Aavik, E., Ylä-Herttuala, S., Civelek, M., Romanoski, C.E., Kaikkonen, M.U.

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 by Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal... by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.

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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

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Human skeletal myopathy myosin mutations disrupt myosin head sequestration by Carrington, Glenn, Hau, Abbi, Kosta, Sarah, Dugdale, Hannah F, Muntoni, Francesco, D'Amico, Adele, Van den Bergh, Peter, Romero, Norma B, Malfatti, Edoardo, Vilchez, Juan Jesus, Oldfors, Anders, Pajusalu, Sander, Õunap, Katrin, Giralt-Pujol, Marta, Zanoteli, Edmar, Campbell, Kenneth S, Iwamoto, Hiroyuki, Peckham, Michelle, Ochala, Julien

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EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs by Puusepp, S., Reinson, K., Pajusalu, S., Oiglane-Shlik, E., Ilves, P., Wojcik, M., Ounap, K.

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POLRMT mutations impair mitochondrial transcription causing neurological disease by Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W, Blakely, Emma L, Collier, Jack J, Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J, McBride, Kim L, Bowden, Sasigarn A, Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A, Brady, Lauren I, Weaver, K Nicole, Prada, Carlos E, Õunap, Katrin, Wojcik, Monica H, Pajusalu, Sander, Syeda, Safoora B, Pais, Lynn, Estrella, Elicia A, Bruels, Christine C, Kunkel, Louis M, Kang, Peter B, Bonnen, Penelope E, Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S, Falkenberg, Maria, Gustafsson, Claes M, Taylor, Robert W

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A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 by Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.

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