The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype von Averdunk, L, Sticht, H, Surowy, H, Lüdecke, HJ, Koch-Hogrebe, M, Alsaif, HS, Kahrizi, K, Alzaidan, H, Alawam, BS, Tohary, M, Kraus, C, Endele, S, Wadman, E, Kaplan, JD, Efthymiou, S, Najmabadi, H, Reis, A, Alkuraya, FS, Wieczorek, D

Volltext bestellen

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy von Marafi, D, Fatih, JM, Kaiyrzhanov, R, Ferla, MP, Gijavanekar, C, Al-Maraghi, A, Liu, N, Sites, E, Alsaif, HS, Al-Owain, M, Zakkariah, M, El-Anany, E, Guliyeva, U, Guliyeva, S, Gaba, C, Haseeb, A, Alhashem, AM, Danish, E, Karageorgou, V, Beetz, C, Subhi, AA, Mullegama, SV, Torti, E, Sebastin, M, Breilyn, MS, Duberstein, S, Abdel-Hamid, MS, Mitani, T, Du, H, Rosenfeld, JA, Jhangiani, SN, Coban Akdemir, Z, Gibbs, RA, Taylor, JC, Fakhro, KA, Hunter, JV, Pehlivan, D, Zaki, MS, Gleeson, JG, Maroofian, R, Houlden, H, Posey, JE, Sutton, VR, Alkuraya, FS, Elsea, SH, Lupski, JR

Volltext bestellen

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans von Collier, JJ, Guissart, C, Oláhová, M, Sasorith, S, Piron-Prunier, F, Suomi, F, Zhang, D, Martinez-Lopez, N, Leboucq, N, Bahr, A, Azzarello-Burri, S, Reich, S, Schöls, L, Polvikoski, TM, Meyer, P, Larrieu, L, Schaefer, AM, Alsaif, HS, Alyamani, S, Zuchner, S, Barbosa, IA, Deshpande, C, Pyle, A, Rauch, A, Synofzik, M, Alkuraya, FS, Rivier, F, Ryten, M, McFarland, R, Delahodde, A, McWilliams, TG, Koenig, M, Taylor, RW

Volltext bestellen

KDM5A mutations identified in autism spectrum disorder using forward genetics von El Hayek, L, Tuncay, IO, Nijem, N, Russell, J, Ludwig, S, Kaur, K, Li, X, Anderton, P, Tang, M, Gerard, A, Heinze, A, Zacher, P, Alsaif, HS, Rad, A, Hassanpour, K, Abbaszadegan, MR, Washington, C, DuPont, BR, Louie, RJ, Couse, M, Faden, M, Rogers, RC, Abou Jamra, R, Elias, ER, Maroofian, R, Houlden, H, Lehman, A, Beutler, B, Chahrour, MH

Volltext bestellen

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas... von Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H

Volltext bestellen

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features von Scala, M, Chua, GL, Chin, CF, Alsaif, HS, Borovikov, A, Riazuddin, S, Manzini, MC, Severino, M, Kuk, A, Fan, H, Jamshidi, Y, Toosi, MB, Doosti, M, Karimiani, EG, Salpietro, V, Dadali, E, Baydakova, G, Konovalov, F, Lozier, E, O'Connor, E, Sabr, Y, Alfaifi, A, Ashrafzadeh, F, Striano, P, Zara, F, Alkuraya, FS, Houlden, H, Maroofian, R, Silver, DL

Volltext bestellen

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants von Neuray, C, Maroofian, R, Scala, M, Sultan, T, Pai, GS, Mojarrad, M, El Khashab, H, DeHoll, L, Yue, W, Alsaif, HS, Zanetti, MN, Bello, O, Person, R, Eslahi, A, Khazaei, Z, Feizabadi, MH, Efthymiou, S, SYNaPS Study Group, El-Bassyouni, HT, Soliman, DR, Tekes, S, Ozer, L, Baltaci, V, Khan, S, Beetz, C, Amr, KS, Salpietro, V, Jamshidi, Y, Alkuraya, FS, Houlden, H

Volltext bestellen

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder von Hengel, H, Hannan, SB, Dyack, S, MacKay, SB, Schatz, U, Fleger, M, Kurringer, A, Balousha, G, Ghanim, Z, Alkuraya, FS, Alzaidan, H, Alsaif, HS, Mitani, T, Bozdogan, S, Pehlivan, D, Lupski, JR, Gleeson, JJ, Dehghani, M, Mehrjardi, MYV, Sherr, EH, Parks, KC, Argilli, E, Begtrup, A, Galehdari, H, Balousha, O, Shariati, G, Mazaheri, N, Malamiri, RA, Pagnamenta, AT, Kingston, H, Banka, S, Jackson, A, Osmond, M, Care4Rare Canada Consortium, Genomics England Research Consortium, Rieß, A, Haack, TB, Nägele, T, Schuster, S, Hauser, S, Admard, J, Casadei, N, Velic, A, Macek, B, Ossowski, S, Houlden, H, Maroofian, R, Schöls, L

Volltext bestellen

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

Volltext bestellen