One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes von Sulák, A., Tóth, L., Farkas, K., Tripolszki, K., Fábos, B., Kemény, L., Vályi, P., Nagy, K., Nagy, N., Széll, M.

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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome von Tripolszki, K., Farkas, K., Sulák, A., Szolnoky, G., Duga, B., Melegh, B., Knox, R. G., Parker, V. E. R., Semple, R. K., Kemény, L., Széll, M., Nagy, N.

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233 Identification of genetic modifying factors responsible for the development of the distinct Papillon-Lefévre syndrome and Haim-Munk syndrome clinical phenotypes von Sulák, A., Farkas, K., Tripolszki, K., Széll, M., Nagy, N.

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy von Wong, HH, Seet, SH, Maier, M, Gurel, A, Traspas, RM, Lee, C, Zhang, S, Talim, B, Loh, AYT, Chia, CY, Teoh, TS, Sng, D, Rensvold, J, Unal, S, Shishkova, E, Cepni, E, Nathan, FM, Sirota, FL, Liang, C, Yarali, N, Simsek-Kiper, PO, Mitani, T, Ceylaner, S, Arman-Bilir, O, Mbarek, H, Gumruk, F, Efthymiou, S, Cimen, DU, Georgiadou, D, Sotiropoulou, K, Houlden, H, Paul, F, Pehlivan, D, Laine, C, Chai, G, Ali, NA, Choo, SC, Keng, SS, Boisson, B, Yilmaz, E, Xue, S, Coon, JJ, Ly, TTN, Gilani, N, Hasbini, D, Kayserili, H, Zaki, MS, Isfort, RJ, Ordonez, N, Tripolszki, K, Bauer, P, Rezaei, N, Seyedpour, S, Khotaei, GT, Bascom, CC, Maroofian, R, Chaabouni, M, Alsubhi, A, Eyaid, W, Isikay, S, Gleeson, JG, Lupski, JR, Casanova, J-L, Pagliarini, DJ, Akarsu, NA, Maurer-Stroh, S, Cetinkaya, A, Bertoli-Avella, A, Mathuru, AS, Ho, L, Bard, FA, Reversade, B

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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders von Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

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Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses von Tripolszki, Kornélia, Danis, Judit, Padhi, Aditya K., Gomes, James, Bozó, Renáta, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta

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A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease von Molitor, Anne, Lederle, Alexandre, Radosavljevic, Mirjana, Sapuru, Vinay, Zavorka Thomas, Megan E, Yang, Jianying, Shirin, Mahsa, Collin-Bund, Virginie, Jerabkova-Roda, Katerina, Miao, Zhichao, Bernard, Alice, Rolli, Véronique, Grenot, Pierre, Castro, Carla Noemi, Rosenzwajg, Michelle, Lewis, Elyssa G, Person, Richard, Esperón-Moldes, Uxía-Saraiva, Kaare, Milja, Nokelainen, Pekka T, Batzir, Nurit Assia, Hoffer, Gal Zaks, Paul, Nicodème, Stemmelen, Tristan, Naegely, Lydie, Hanauer, Antoine, Bibi-Triki, Sabrina, Grün, Sarah, Jung, Sophie, Busnelli, Ignacio, Tripolszki, Kornelia, Al-Ali, Ruslan, Ordonez, Natalia, Bauer, Peter, Song, Eunkyung, Zajo, Kristin, Partida-Sanchez, Santiago, Robledo-Avila, Frank, Kumanovics, Attila, Louzoun, Yoram, Hirschler, Aurélie, Pichot, Angélique, Toker, Ori, Mejía, Cesar Andrés Muñoz, Parvaneh, Nima, Knapp, Esther, Hersh, Joseph H, Kenney, Heather, Delmonte, Ottavia M, Notarangelo, Luigi D, Goetz, Jacky G, Kahwash, Samir B, Carapito, Christine, Bajwa, Rajinder P S, Thomas, Caroline, Ehl, Stephan, Isidor, Bertrand, Carapito, Raphael, Abraham, Roshini S, Hite, Richard K, Marcus, Nufar, Bertoli-Avella, Aida, Bahram, Seiamak

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