B.02 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy von McMillan, HJ, Telegrafi, A, Singleton, A, Cho, M, Lelli, D, Lynn, FC, Griffin, J, Asamoah, A, Rinne, T, Erasmus, CE, Koolen, DA, Haaxma, CA, Keren, B, Doummar, D, Mignot, C, Thompson, I, Velsher, L, Dehghani, M, Vahidi Mehrjardi, M, Maroofian, R, Tchan, M, Simons, C, Christodoulou, J, Martín-Hernández, E, Guillen Sacoto, MJ, Henderson, LB, McLaughlin, H, Molday, LL, Molday, RS, Yoon, G

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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance von Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

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The prevalence and phenotypic range associated with biallelic PKDCC variants von Pagnamenta, AT, Belles, RS, Salbert, BA, Wentzensen, IM, Guillen Sacoto, MJ, Santos, FJR, Caffo, A, Ferla, M, Banos-Pinero, B, Pawliczak, K, Makvand, M, Najmabadi, H, Maroofian, R, Lester, T, Yanez-Felix, AL, Villarroel-Cortes, CE, Xia, F, Al Fayez, K, Al Hashem, A, Shears, D, Irving, M, Offiah, AC, Kariminejad, A, Taylor, JC

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 von Schirwani, S, Albaba, S, Carere, DA, Guillen Sacoto, MJ, Milan Zamora, F, Si, Y, Rabin, R, Pappas, J, Renaud, DL, Hauser, N, Reid, E, Blanchet, P, Foulds, N, Dixit, A, Fisher, R, Armstrong, R, Isidor, B, Cogne, B, Schrier Vergano, S, Demirdas, S, Dykzeul, N, Cohen, JS, Grand, K, Morel, D, Slavotinek, A, Albassam, HF, Naik, S, Dean, J, Ragge, N, Cinzia, C, Tedesco, MG, Harrison, RE, Bouman, A, Palen, E, Challman, TD, Willemsen, MH, Vogt, J, Cunniff, C, Bergstrom, K, Walia, JS, Bruel, A-L, Kini, U, Alkuraya, FS, Slegesky, V, Meeks, N, Girotto, P, Johnson, D, DDD Study, Newbury-Ecob, R, Ockeloen, CW, Prontera, P, Lynch, SA, Li, D, Graham, JM, Balasubramanian, M

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects von Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity von Cheng, H, Capponi, S, Wakeling, E, Marchi, E, Li, Q, Zhao, M, Weng, C, Stefan, PG, Ahlfors, H, Kleyner, R, Rope, A, Lumaka, A, Lukusa, P, Devriendt, K, Vermeesch, J, Posey, JE, Palmer, EE, Murray, L, Leon, E, Diaz, J, Worgan, L, Mallawaarachchi, A, Vogt, J, de Munnik, SA, Dreyer, L, Baynam, G, Ewans, L, Stark, Z, Lunke, S, Gonçalves, AR, Soares, G, Oliveira, J, Fassi, E, Willing, M, Waugh, JL, Faivre, L, Riviere, JB, Moutton, S, Mohammed, S, Payne, K, Walsh, L, Begtrup, A, Guillen Sacoto, MJ, Douglas, G, Alexander, N, Buckley, MF, Mark, PR, Adès, LC, Sandaradura, SA, Lupski, JR, Roscioli, T, Agrawal, PB, Kline, AD, Wang, K, Timmers, HTM, Lyon, GJ

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome von Palmer, EE, Hong, S, Al Zahrani, F, Hashem, MO, Aleisa, FA, Ahmed, HMJ, Kandula, T, Macintosh, R, Minoche, AE, Puttick, C, Gayevskiy, V, Drew, AP, Cowley, MJ, Dinger, M, Rosenfeld, JA, Xiao, R, Cho, MT, Yakubu, SF, Henderson, LB, Guillen Sacoto, MJ, Begtrup, A, Hamad, M, Shinawi, M, Andrews, MV, Jones, MC, Lindstrom, K, Bristol, RE, Kayani, S, Snyder, M, Villanueva, MM, Schteinschnaider, A, Faivre, L, Thauvin, C, Vitobello, A, Roscioli, T, Kirk, EP, Bye, A, Merzaban, J, Jaremko, Ł, Jaremko, M, Sachdev, RK, Alkuraya, FS, Arold, ST, Palmer, Elizabeth

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