Utility of clinical high‐depth next generation sequencing for somatic variant detection in the PIK3CA‐related overgrowth spectrum von Hucthagowder, V., Shenoy, A., Corliss, M., Vigh‐Conrad, K.A., Storer, C., Grange, D.K., Cottrell, C.E.

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival von Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt

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Fibulin_4 function in zebrafish von Maxfield, A.B., Hucthagowder, V., Gitlin, J.D., Joseph, E.M., Urban, Z.

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Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome von Hucthagowder, Vishwanathan, Sausgruber, Nina, Kim, Katherine H., Angle, Brad, Marmorstein, Lihua Y., Urban, Zsolt

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Pathogenic germline variants in 10,389 adult cancers von Huang, K-L, Mashl, RJ, Wu, Y, Ritter, DI, Wang, J, Oh, C, Paczkowska, M, Reynolds, S, Wyczalkowski, MA, Oak, N, Scott, AD, Krassowski, M, Cherniack, AD, Houlahan, KE, Jayasinghe, R, Wang, L-B, Zhou, DC, Liu, D, Cao, S, Kim, YW, Koire, A, McMichael, JF, Hucthagowder, V, Kim, T-B, Hahn, A, Wang, C, McLellan, MD, Al-Mulla, F, Johnson, KJ, Lichtarge, O, Boutros, PC, Raphael, B, Lazar, AJ, Zhang, W, Wendl, MC, Govindan, R, Jain, S, Wheeler, D, Kulkarni, S, Dipersio, JF, Reimand, J, Meric-Bernstam, F, Chen, K, Shmulevich, I, Plon, SE, Chen, F, Ding, L

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival von Morava, Eva, Hucthagowder, V, Kornak, U, Lefeber, D.J, Fischer, B, Dimopoulou, A, Adlinger, A, Choi, J, Davis, E.C, Abuelo, D.N, Adamowicz, M, Al-Aama, J, Basel-Vanagaite, L, Fernandez, B, Greally, M.T, Gillessen-Kaesbach, G, Kayserili, H, Lemyre, E, Tekin, M, Türkmen, S, Tuysuz, B, Yüksel-Konuk, B, Mundlos, S, Van Maldergem, L, Wevers, R.A, Urban, Z

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