A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M
Published in Journal of medical genetics (01.11.2009)
Published in Journal of medical genetics (01.11.2009)
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MRNIP is a replication fork protection factor
Bennett, L G, Wilkie, A M, Antonopoulou, E, Ceppi, I, Sanchez, A, Vernon, E G, Gamble, A, Myers, K N, Collis, S J, Cejka, P, Staples, C J
Published in Science advances (01.07.2020)
Published in Science advances (01.07.2020)
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J
Published in European journal of human genetics : EJHG (01.08.2014)
Published in European journal of human genetics : EJHG (01.08.2014)
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Cellular correlates of selfish spermatogonial selection
Maher, G. J., Rajpert‐De Meyts, E., Goriely, A., Wilkie, A. O. M.
Published in Andrology (Oxford) (01.05.2016)
Published in Andrology (Oxford) (01.05.2016)
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A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22
Feldman, George J., Ward, Deeann E., Lajeunie-Renier, Elisabeth, Saavedra, Dolores, Robin, Nathaniel H., Proud, Virginia, Robb, Laura J., Der Kaloustian, Vazken, Carey, John C., Cohen, M. Michael, Cormier, Valerie, Munnich, Arnold, Zackai, Elaine H., Wilkie, Andrew O. M., Arlen Price, R., Muenke, Maximilian
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C, Wall, SA, Jabs, EW, Boyadjiev, SA, Wilkie, AOM, Passos-Bueno, MR
Published in Clinical genetics (01.06.2005)
Published in Clinical genetics (01.06.2005)
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Genetics in Medicine Open (01.09.2023)
Published in Genetics in Medicine Open (01.09.2023)
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Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry‐Labis, Elise, Dieux‐Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E. V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R. F., Wilkie, Andrew O. M.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A
Published in Journal of medical genetics (01.11.2008)
Published in Journal of medical genetics (01.11.2008)
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Effect of high-dose simvastatin on cognitive, neuropsychiatric, and health-related quality-of-life measures in secondary progressive multiple sclerosis: secondary analyses from the MS-STAT randomised, placebo-controlled trial
Chan, Dennis, PhD, Binks, Sophie, MRCP, Nicholas, Jennifer M, PhD, Frost, Chris, Prof, Cardoso, M Jorge, PhD, Ourselin, Sebastien, Prof, Wilkie, David, MA, Nicholas, Richard, PhD, Chataway, Jeremy, Dr
Published in Lancet neurology (01.08.2017)
Published in Lancet neurology (01.08.2017)
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Effect of high-dose simvastatin on brain atrophy and disability in secondary progressive multiple sclerosis (MS-STAT): a randomised, placebo-controlled, phase 2 trial
Chataway, Jeremy, Dr, Schuerer, Nadine, PhD, Alsanousi, Ali, PhD, Chan, Dennis, PhD, MacManus, David, BSc, Hunter, Kelvin, Anderson, Val, PhD, Bangham, Charles R M, Prof, Clegg, Shona, BSc, Nielsen, Casper, PhD, Fox, Nick C, Prof, Wilkie, David, MA, Nicholas, Jennifer M, PhD, Calder, Virginia L, PhD, Greenwood, John, Prof, Frost, Chris, Prof, Nicholas, Richard, PhD
Published in The Lancet (British edition) (28.06.2014)
Published in The Lancet (British edition) (28.06.2014)
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