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Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Academic Journal
Jain, V.; Clarke, A.J.; Davies, S.J.; Corrin, S.; Murch, O.; Pottinger, C.; Fry, A.E.; Foo, S.H.; Moss, C.; Chooi, S.; Goodwin, R.; Berland, S.; Doyle, S.; Lynch, S.A.; Graham, G.E.; Greenhalgh, L.; McCann, E.; Holder, S.E.; Johnson, D.; Kumar, A.; Ladda, R.L.; Sell, S.; Begtrup, A.; Østern, R.; Splitt, M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, December 2023, 31(12):1421-1429)
Academic Journal
XiangWei, W.; Liu, N.; Zhang, Y.; Wang, S.; Jiang, Y.; Perszyk, R.E.; Xu, Y.; Bhattacharya, S.; Shaulsky, G.H.; Myers, S.J.; Yuan, H.; Traynelis, S.F.; Smith-Hicks, C.; Fatemi, A.; Cohen, J.S.; Fry, A.E.; Chandler, K.; Wang, T.; Vogt, J.; Paciorkowski, A.R.; Poduri, A.; Wang, Y.; Zhai, Q.; Fang, F.; Leng, J.; Garber, K.; Jauss, R.-T.; Lemke, J.R.; Park, K.L.; Benke, T.A.
In: Cellular and Molecular Life Sciences . (Cellular and Molecular Life Sciences, November 2023, 80(11))
Academic Journal
Vezyroglou, A.; Barwick, K.; Kurian, M.A.; Cross, J.H.; Carr, L.; Akilapa, R.; Holder-Espinasse, M.; Koene, S.; Koopmann, T.T.; Ruivenkamp, C.A.L.; Brownstein, C.A.; Agrawal, P.B.; Fry, A.E.; Németh, A.H.; Tofaris, G.K.; Hay, E.; Male, A.; Hughes, I.; Mansour, S.; Mordekar, S.R.; Splitt, M.; Turnpenny, P.D.; Demetriou, D.; Clowes, V.; Ghali, N.; Holder, S.E.; Radley, J.; Sisodiya, S.M.; Balasubramanian, M.
In: Neurology . (Neurology, 4 October 2022, 99(14):E1511-E1526)
Academic Journal
Brock, S.; Stouffs, K.; Laquerriere, A.; Marguet, F.; Myers, S.J.; Hongjie, Y.; Kim, S.; Allen, J.; Shaulsky, G.; Traynelis, S.F.; Baralle, D.; Vanderhasselt, T.; Keymolen, K.; Chelly, J.; Marcorelle, P.; Aziza, J.; Villard, L.; Sacaze, E.; De Wit, M.C.Y.; Wilke, M.; Mancini, G.M.S.; Hehr, U.; Lim, D.; Mansour, S.; Beneteau, C.; Denis-Musquer, M.; Jansen, A.C.; Fry, A.E.; Bahi-Buisson, N.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 7 April 2022, 60(2):183-192)
Academic Journal
Ragoussis, V.; Pagnamenta, A.T.; Giacopuzzi, E.; Taylor, J.C.; Haines, R.L.; McClatchey, M.A.; Sampson, J.R.; Fry, A.E.; Suri, M.; Gardham, A.; Cobben, J.-M.; Osio, D.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 April 2022, 59(4):366-369)
Academic Journal
Murch, O.; Jain, V.; Fry, A.E.; Benneche, A.; Berland, S.; Metcalfe, K.; Chandler, K.; Hobson, E.; Prescott, K.; Ghali, N.; Carmichael, J.; Foulds, N.C.; Paulsen, J.; Smeland, M.F.
In: European Journal of Human Genetics . (European Journal of Human Genetics, January 2022, 30(1):95-100)
Academic Journal
von der Lippe, C.; Tveten, K.; Prescott, T.E.; Holla, Ø.L.; Busk, Ø.L.; Burke, K.B.; Sansbury, F.H.; Fry, A.E.; Baptista, J.; Lim, D.; Osio, D.; Jolles, S.; Evans, J.; Macmillan, C.; Bruno, I.; Faletra, F.; Climent, S.; Urreitzi, R.; Hoenicka, J.; Palau, F.; Cohen, A.S.A.; Engleman, K.; Zhou, D.; Amudhavalli, S.M.; Jeanne, M.; Bonnet-Brilhault, F.; Lévy, J.; Drunat, S.; Derive, N.; Haug, M.G.; Thorstensen, W.M.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, January 2022, 188(1):272-282)
Academic Journal
Faundes, V.; Legraie, S.; Cuvertino, S.; Newman, W.G.; Banka, S.; Jennings, M.D.; Pavitt, G.D.; Kasher, P.R.; Crilly, S.; Withers, S.E.; Davies, S.J.; Fry, A.E.; Douglas, A.G.L.; Harrison, V.; Amiel, J.; Lehalle, D.; Gordon, C.T.; Newkirk, P.; Ranells, J.; Splitt, M.; Cross, L.A.; Sullivan, B.R.; Saunders, C.J.; Granadillo, J.L.
In: Nature Communications . (Nature Communications, December 2021, 12(1))
Academic Journal
Faundes, V.; Banka, S.; Goh, S.; Akilapa, R.; Brady, A.F.; Canham, N.; Bezuidenhout, H.; Bjornsson, H.T.; Bradley, L.; Cody, D.; Gill, H.; Sasaki, E.; Brischoux-Boucher, E.; Brunner, H.; Bulk, S.; Dentici, M.L.; Digilio, M.C.; Elmslie, F.; McEntagart, M.; Fry, A.E.; Hurst, J.; Johnson, D.; Julia, S.; Lachlan, K.; Lebel, R.R.; Byler, M.; Gershon, E.; Lemire, E.; Gnazzo, M.; Lepri, F.R.; Marchese, A.; McGaughran, J.; Rodgers, J.; Mizuno, S.; Okamoto, N.; Rieubland, C.; Scalais, E.; Scurr, I.; Suri, M.; van der Burgt, I.; Matsumoto, N.; Miyake, N.; Benoit, V.; Lederer, D.
In: Genetics in Medicine . (Genetics in Medicine, July 2021, 23(7):1202-1210)
Academic Journal
Balasubramanian, M.; Yates, T.M.; Dingemans, A.J.M.; Schouten, M.; Leenders, E.; Pfundt, R.; Kleefstra, T.; Albaba, S.; Richardson, R.; Cox, H.; Ragge, N.; Sharif, S.; Foster, A.; Douzgou, S.; Armstrong, R.; Sansbury, F.H.; Burke, K.B.; Fry, A.E.; De Sandre-Giovannoli, A.; Elouej, S.; Vasudevan, P.; Mansour, S.; Wilson, K.; Stewart, H.; Heide, S.; Nava, C.; Keren, B.; Demirdas, S.; Brooks, A.S.; Vincent, M.; Isidor, B.; Küry, S.; Chung, W.K.; Haeringen, A.; Scheffner, T.; Debray, F.-G.; White, S.M.; Palafoll, M.I.V.; Newbury-Ecob, R.
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2021, 29(4):625-636)
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[AR] Fry, A.E.
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