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
Published in Nature (London) (04.02.2010)

by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S
Published in Journal of medical genetics (01.07.2013)

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
Published in Orphanet journal of rare diseases (27.04.2019)

by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.
Published in American journal of medical genetics. Part A (01.11.2004)

by Bartholdi, D, Krajewska-Walasek, M, Õunap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A
Published in Journal of medical genetics (01.03.2009)

by Mauring, L, Puusepp, S, Parik, M, Roomets, E, Teek, R, Reimand, T, Pajusalu, S, Kaljurand, K, Õunap, K
Published in European journal of medical genetics (01.09.2023)

by Pajusalu, S., Kahre, T., Roomere, H., Murumets, Ü., Roht, L., Simenson, K., Reimand, T., Õunap, K.
Published in Clinical genetics (01.01.2018)

by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.
Published in JIMD Reports - Case and Research Reports, 2011/2 (01.01.2012)

by Krabbi, K., Uudelepp, M.-L., Joost, K., Zordania, R., Õunap, K.
Published in Molecular genetics and metabolism (01.07.2011)

by Puusepp, H., Kall, K., Salomons, G. S., Talvik, I., Männamaa, M., Rein, R., Jakobs, C., Õunap, K.
Published in Journal of inherited metabolic disease (01.12.2010)

by Žilina, O., Reimand, T., Zjablovskaja, P., Männik, K., Männamaa, M., Traat, A., Puusepp-Benazzouz, H., Kurg, A., Õunap, K.
Published in American journal of medical genetics. Part A (01.01.2012)

by Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K
Published in Advances in medical sciences (01.12.2013)

by Puusepp, S., Reinson, K., Pajusalu, S., Oiglane-Shlik, E., Ilves, P., Wojcik, M., Ounap, K.
Published in Neuromuscular disorders : NMD (01.10.2019)

by Oiglane, E, Ounap, K, Bartsch, O, Rein, R, Talvik, T
Published in Genetic counseling (2002)

by Anderson, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I, Crow, Yanick J
Published in Nature genetics (01.03.2012)

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.
Published in Nature communications (18.02.2021)

by Muru, K., Kalev, I., Teek, R., Sõnajalg, M., Kuuse, K., Reimand, T., Õunap, K.
Published in Molecular syndromology (01.09.2011)

by Joost, K., Rodenburg, R.J., Piirsoo, A., van den Heuvel, L., Žordania, R., Põder, H., Talvik, I., Kilk, K., Soomets, U., Õunap, K.
Published in Molecular syndromology (01.09.2012)

by Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C., Bönnemann, C., Chao, K., Coppens, S., Donkervoort, S., Goodrich, J., Kang, P., Mohassel, P., Pais, L., Siddique, T., Vargas-Franco, D., Wojcik, M., Stenzel, W., Ounap, K.
Published in Neuromuscular disorders : NMD (01.10.2020)

by Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C., Bönnemann, C., Chao, K., Coppens, S., Donkervoort, S., Goodrich, J., Kang, P., Mohassel, P., Pais, L., Siddique, T., Vargas-Franco, D., Wojcik, M., Stenzel, W., Ounap, K.
Published in Neuromuscular disorders : NMD (01.10.2020)