Aspirin, 'the wonder drug', so simple, so effective....so why not? von Houlden, RE, Green, L, Mackillop, L, Black, R

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Induction of labour – a necessary evil? von Houlden, RE, Pandey, S, Black, R

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Aspirin, ‘the wonder drug’, so simple, so effective….so why not? von Houlden, RE, Green, L, Mackillop, L, Black, R

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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder von Maroofian, R, Zamani, M, Kaiyrzhanov, R, Liebmann, L, Karimiani, EG, Vona, B, Huebner, AK, Calame, DG, Misra, VK, Sadeghian, S, Azizimalamiri, R, Mohammadi, MH, Zeighami, J, Heydaran, S, Toosi, MB, Akhondian, J, Babaei, M, Hashemi, N, Schnur, RE, Suri, M, Setzke, J, Wagner, M, Brunet, T, Grochowski, CM, Emrick, L, Chung, WK, Hellmich, UA, Schmidts, M, Lupski, JR, Galehdari, H, Severino, M, Houlden, H, Hübner, CA

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals von Saida, K, Maroofian, R, Sengoku, T, Mitani, T, Pagnamenta, AT, Marafi, D, Zaki, MS, O'Brien, TJ, Karimiani, EG, Kaiyrzhanov, R, Takizawa, M, Ohori, S, Leong, HY, Akay, G, Galehdari, H, Zamani, M, Romy, R, Carroll, CJ, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Malek, H, Ahangari, N, Tomoum, H, Gowda, VK, Srinivasan, VM, Murphy, D, Dominik, N, Elbendary, HM, Rafat, K, Yilmaz, S, Kanmaz, S, Serin, M, Krishnakumar, D, Gardham, A, Maw, A, Rao, TS, Alsubhi, S, Srour, M, Buhas, D, Jewett, T, Goldberg, RE, Shamseldin, H, Frengen, E, Misceo, D, Strømme, P, Magliocco Ceroni, JR, Kim, CA, Yesil, G, Sengenc, E, Guler, S, Hull, M, Parnes, M, Aktas, D, Anlar, B, Bayram, Y, Pehlivan, D, Posey, JE, Alavi, S, Madani Manshadi, SA, Alzaidan, H, Al-Owain, M, Alabdi, L, Abdulwahab, F, Sekiguchi, F, Hamanaka, K, Fujita, A, Uchiyama, Y, Mizuguchi, T, Miyatake, S, Miyake, N, Elshafie, RM, Salayev, K, Guliyeva, U, Alkuraya, FS, Gleeson, JG, Monaghan, KG, Langley, KG, Yang, H, Motavaf, M, Safari, S, Alipour, M, Ogata, K, Brown, AEX, Lupski, JR, Houlden, H, Matsumoto, N

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss von Richard, EM, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Worgan, L, Hakonarson, H, Li, J, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability von Scala, M, Mojarrad, M, Riazuddin, S, Brigatti, KW, Ammous, Z, Cohen, JS, Hosny, H, Usmani, MA, Shahzad, M, Stanley, V, Eslahi, A, Person, RE, Elbendary, HM, Comi, AM, Poskitt, L, Salpietro, V, Genomics, QS, Rosenfeld, JA, Williams, KB, Marafi, D, Xia, F, Biderman Waberski, M, Zaki, MS, Gleeson, J, Puffenberger, E, Houlden, H, Maroofian, R

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome von Weerts, MJA, Lanko, K, Guzman-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londono, KJ, Pena-Guerra, KA, Van Bever, Y, Van Paassen, BW, Kievit, A, Van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Jarvela, I, Lauronen, L, Maatta, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies von Dworschak, GC, Punetha, J, Kalanithy, JC, Mingardo, E, Erdem, HB, Akdemir, ZC, Karaca, E, Mitani, T, Marafi, D, Fatih, JM, Jhangiani, SN, Hunter, JV, Dakal, TC, Dhabhai, B, Dabbagh, O, Alsaif, HS, Alkuraya, FS, Maroofian, R, Houlden, H, Efthymiou, S, Dominik, N, Salpietro, V, Sultan, T, Haider, S, Bibi, F, Thiele, H, Hoefele, J, Riedhammer, KM, Wagner, M, Guella, I, Demos, M, Keren, B, Buratti, J, Charles, P, Nava, C, Heron, D, Heide, S, Valkanas, E, Waddell, LB, Jones, KJ, Oates, EC, Cooper, ST, MacArthur, D, Syrbe, S, Ziegler, A, Platzer, K, Okur, V, Chung, WK, O'Shea, SA, Alcalay, R, Fahn, S, Mark, PR, Guerrini, R, Vetro, A, Hudson, B, Schnur, RE, Hoganson, GE, Burton, JE, McEntagart, M, Lindenberg, T, Yilmaz, O, Odermatt, B, Pehlivan, D, Posey, JE, Lupski, JR, Reutter, H

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy von Thi, TMN, Murakami, Y, Mobilio, S, Niceta, M, Zampino, G, Philippe, C, Moutton, S, Zaki, MS, James, KN, Musaev, D, Mu, W, Baranano, K, Nance, JR, Rosenfeld, JA, Braverman, N, Ciolfi, A, Millan, F, Person, RE, Bruel, A-L, Thauvin-Robinet, C, Ververi, A, DeVile, C, Male, A, Efthymiou, S, Maroofian, R, Houlden, H, Maqbool, S, Rahman, F, Baratang, N, Rousseau, J, St-Denis, A, Elrick, MJ, Anselm, I, Rodan, LH, Tartaglia, M, Gleeson, J, Kinoshita, T, Campeau, PM

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities von Vandervore, LV, Schot, R, Milanese, C, Smits, DJ, Kasteleijn, E, Fry, AE, Pilz, DT, Brock, S, Börklü-Yücel, E, Post, M, Bahi-Buisson, N, Sánchez-Soler, MJ, van Slegtenhorst, M, Keren, B, Afenjar, A, Coury, SA, Tan, W-H, Oegema, R, de Vries, LS, Fawcett, KA, Nikkels, PGJ, Bertoli-Avella, A, Al Hashem, A, Alwabel, AA, Tlili-Graiess, K, Efthymiou, S, Zafar, F, Rana, N, Bibi, F, Houlden, H, Maroofian, R, Person, RE, Crunk, A, Savatt, JM, Turner, L, Doosti, M, Karimiani, EG, Saadi, NW, Akhondian, J, Lequin, MH, Kayserili, H, van der Spek, PJ, Jansen, AC, Kros, JM, Verdijk, RM, Milošević, NJ, Fornerod, M, Mastroberardino, PG, Mancini, GMS

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Männikkö, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Peñas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, SYNAPS Study Group, Raspall-Chaure, M, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H

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