mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review von Gordo, G., Tenorio, J., Arias, P., Santos‐Simarro, F., García‐Miñaur, S., Moreno, J.C., Nevado, J., Vallespin, E., Rodriguez‐Laguna, L., de Mena, R., Dapia, I., Palomares‐Bralo, M., del Pozo, Á., Ibañez, K., Silla, J.C., Barroso, E., Ruiz‐Pérez, V.L., Martinez‐Glez, V., Lapunzina, P.

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Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two von Bravo García-Morato, M, García-Miñaúr, S, Molina Garicano, J, Santos Simarro, F, López-Grandos, E, Ferreira Cerdán, A, Rodríguez Pena, R

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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum von Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D.C., Bakhti, H., Garg, A., Hilbert, P.

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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants von Santos‐Simarro, F., Vallespin, E., Pozo, A., Ibañez, K., Silla, J.C., Fernandez, L., Nevado, J., González‐Pecellín, H., Montaño, V.E.F., Martin, R., Alba Valdivia, L.I., García‐Miñaúr, S., Lapunzina, P., Palomares‐Bralo, M.

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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes von Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

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MAGEL2‐related disorders: A study and case series von Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study von Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E, Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana-Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, Mohnike, Klaus

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Episignature Mapping of TRIP12 provides functional insight into Clark-Baraitser Syndrome von Laan, L. van der, Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M.A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M.L., Vissers, L.E.L.M., Koene, S., Ruivenkamp, C., Hoffer, M.J.V., Wieczorek, D., Bramswig, N.C., Herget, T., Gonzalez, V.L., Santos-Simarro, F., Torring, P.M., Denomme-Pichon, A.S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P.Y., Misra-Isrie, M., Esch, H. van, Mannens, M.M.A.M., Sadikovic, B., Haelst, M.M. van, Henneman, P.

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant von Aerden, M., Denommé-Pichon, A.S., Bonneau, D., Bruel, A.L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Mau-Them, F.T., Viora-Dupont, E., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P.Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., Haelst, M. van, Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F.G., Bramswig, N.C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Torring, P.M., Renieri, A., Bruno, L.P., Ounap, K., Wojcik, M., Hsieh, T.C., Krawitz, P., Esch, H. van

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort von Sluijs, P.J. van der, Joosten, M., Alby, C., Gilmore, K., Dubourg, C., Fradin, M., Wang, T.Y., Kurtz-Nelson, E.C., Ahlers, K.P., Arts, P., Barnett, C.P., Ashfaq, M., Baban, A., Born, M. van den, Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., Chong, K., Dempsey, J.C., Cueto-Gonzalez, A.M., Diderich, K.E.M., Doherty, D., Farholt, S., Gerkes, E.H., Gorokhova, S., Govaerts, L.C.P., Gregersen, P.A., Hickey, S.E., Lefebvre, M., Mari, F., Martinovic, J., Northrup, H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A.T., Zahir, F.R., Scott, H.S., Earl, R.K., Eichler, E.E., Vora, N.L., Wilnai, Y., Giordano, J.L., Wapner, R.J., Rosenfeld, J.A., Haak, M.C., Santen, G.W.E.

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders von Levy, M.A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M.P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B.R., Elting, M.W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R.S., Cherick, F., Foroutan, A., Friez, M.J., Gervasini, C., Haghshenas, S., Hilton, B.A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R.J., Maitz, S., Milani, D., Morgan, A.T., Oegema, R., Ostergaard, E., Pallares, N.R., Piccione, M., Plomp, A.S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G.W.E., Santos-Simarro, F., Schijns, J., Squeo, G.M., St John, M., Thauvin-Robinet, C., Traficante, G., Sluijs, P.J. van der, Vergano, S.A., Vos, N., Walden, K.K., Azmanov, D., Balci, T.B., Banka, S., Gecz, J., Henneman, P., Lee, J.A., Mannens, M.M.A.M., Roscioli, T., Siu, V., Amor, D.J., Baynam, G., Bend, E.G., Boycott, K., Brunetti-Pierri, N., Campeau, P.M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J.A., Fleming, M.D., Genevieve, D., Heron, D., Husson, T., Kernohan, K.D., McNeill, A., Menke, L.A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S.A., Stevenson, R.E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M.L., Sadikovic, B.

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, M.A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B.R., Elting, M.W., Faivre, L., Fee, T., Fletcher, R.S., Cherik, F., Foroutan, A., Friez, M.J., Gervasini, C., Haghshenas, S., Hilton, B.A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R.J., Maitz, S., Milani, D., Morgan, A.T., Oegema, R., Ostergaard, E., Pallares, N.R., Piccione, M., Pizzi, S., Plomp, A.S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G.W.E., Santos-Simarro, F., Schijns, J., Squeo, G.M., St John, M., Thauvin-Robinet, C., Traficante, G., Sluijs, P.J. van der, Vergano, S.A., Vos, N., Walden, K.K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J.A., Mannens, M.M.A.M., Roscioli, T., Siu, V., Amor, D.J., Baynam, G., Bend, E.G., Boycott, K., Brunetti-Pierri, N., Campeau, P.M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J.A., Fleming, M.D., Genevieve, D., Kerrnohan, K.D., McNeill, A., Menke, L.A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S.A., Stevenson, R.E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M.L., Sadikovic, B.

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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses von Angius, A, Uva, P, Oppo, M, Buers, I, Persico, I, Onano, S, Cuccuru, G, Van Allen, MI, Hulait, G, Aubertin, G, Muntoni, F, Fry, AE, Annerén, G, Stattin, E-L, Palomares-Bralo, M, Santos-Simarro, F, Cucca, F, Crisponi, G, Rutsch, F, Crisponi, L

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature von Rots, D., Chater-Diehl, E., Dingemans, A.J.M., Goodman, S.J., Siu, M.T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B.B.A. de, Deden, A.C., Leenders, E., Kwint, M., Stumpel, C.T.R.M., Stevens, S.J.C., Vermeulen, J.R., Harssel, J.V.T. van, Bosch, D.G.M., Gassen, K.L.I. van, Binsbergen, E. van, Geus, C.M. de, Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I.M., Yang, H., Zou, F.G., Millan, F., Person, R., Xie, Y.L., Liu, S.X., Ousager, L.B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E.W., Berry, I.R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A.M., Radley, J.A., Phornphutkul, C., Schmidt, B., Wilson, W.G., Ounap, K., Reinson, K., Pajusalu, S., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Miguez, M., Ritter, A., Bhoj, E., Tonne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M.J.M., Cohn, R.D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S.W., Brunner, H.G., Vissers, L.E.L.M., Kleefstra, T., Koolen, D.A., Weksberg, R.

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Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes von Mulder, P.A., Balkom, I.D.C. van, Landlust, A.M., Priolo, M., Menke, L.A., Acero, I.H., Alkuraya, F.S., Arias, P., Bernardini, L., Bijlsma, E.K., Cole, T., Coubes, C., Dapia, I., Davies, S., Donato, N. di, Elcioglu, N.H., Fahrner, J.A., Foster, A., Gonzalez, N.G., Huber, I., Iascone, M., Kaiser, A.S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S.A., Maas, S.M., Mammi, C., Mathijssen, I.B., McKee, S., Mirzaa, G.M., Montgomery, T., Neubauer, D., Neumann, T.E., Pintomalli, L., Pisanti, M.A., Plomp, A.S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R.V., Valdez, R.M., Haeringen, A. van, Hagen, J.M. van, Zenker, M., Zollino, M., Dunn, W.W., Piening, S., Hennekam, R.C.

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Further delineation of Malan syndrome von Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P.A., Tenorio, J., Kooblall, K., Acero, I.H., Alkuraya, F.S., Arias, P., Bernardini, L., Bijlsma, E.K., Cole, T., Coubes, C., Dapia, I., Davies, S., Donato, N. di, Elcioglu, N.H., Fahrner, J.A., Foster, A., Gonzalez, N.G., Huber, I., Iascone, M., Kaiser, A.S., Kamath, A., Liebelt, J., Lynch, S.A., Maas, S.M., Mammi, C., Mathijssen, I.B., McKee, S., Menke, L.A., Mirzaa, G.M., Montgomery, T., Neubauer, D., Neumann, T.E., Pintomalli, L., Pisanti, M.A., Plomp, A.S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R.M., Haeringen, A. van, Hagen, J.M. van, Zollino, M., Lapunzina, P., Thakker, R.V., Zenker, M., Hennekam, R.C.

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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder von Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, San-Martín, Esteban A, Silván, Cristina, Santos-Simarro, Fernando, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo

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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial ph... von Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María

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