Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes von Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.

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Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta von Smith, C.E.L., Poulter, J.A., Brookes, S.J., Murillo, G., Silva, S., Brown, C.J., Patel, A., Hussain, H., Kirkham, J., Inglehearn, C.F., Mighell, A.J.

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sj-pptx-1-jdr-10.1177_00220345231203694 – Supplemental material for Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes von Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.

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D-Type Cyclins in Development and Disease von Saleban, M, Harris, E.L, Poulter, J.A

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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability von Smith, C.E.L, Laugel-Haushalter, V, Hany, U, Best, S, Taylor, R.L, Poulter, J.A, Wortmann, S.B, Feichtinger, R.G, Mayr, J.A, Al Bahlani, S, Nikolopoulos, G, Rigby, A, Black, G.C, Watson, C.M, Mansour, S, Inglehearn, C.F, Mighell, A.J, Bloch-Zupan, A

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes von Harris, E.L, Roy, V, Montagne, M, Rose, A.M.S, Livesey, H, Reijnders, M.R.F, Hobson, E, Sansbury, F.H, Willemsen, M.H, Pfundt, R, Warren, D, Long, V, Carr, I.M, Brunner, H.G, Sheridan, E.G, Firth, H.V, Lavigne, P, Poulter, J.A

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Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes von Hany, U, Watson, C.M, Liu, L, Nikolopoulos, G, Smith, C.E.L, Poulter, J.A, Brown, C.J, Patel, A, Rodd, H.D, Balmer, R, Harfoush, A, Al-Jawad, M, Inglehearn, C.F, Mighell, A.J

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta von Hany, U, Watson, C.M, Liu, L, Smith, C.E.L, Harfoush, A, Poulter, J.A, Nikolopoulos, G, Balmer, R, Brown, C.J, Patel, A, Simmonds, J, Charlton, R, Acosta de Camargo, M.G, Rodd, H.D, Jafri, H, Antanaviciute, A, Moffat, M, Al-Jawad, M, Inglehearn, C.F, Mighell, A.J

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta von Hany, U, Watson, C.M, Liu, L, Smith, C.E.L, Harfoush, A, Poulter, J.A, Nikolopoulos, G, Balmer, R, Brown, C.J, Patel, A, Simmonds, J, Charlton, R, Acosta de Camargo, M.G, Rodd, H.D, Jafri, H, Antanaviciute, A, Moffat, M, Al-Jawad, M, Inglehearn, C.F, Mighell, A.J

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IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy von Tanner, G, Barrow, R, Ajaib, S, Al-Jabri, M, Ahmed, N, Pollock, S, Finetti, M, Rippaus, N, Bruns, A.F, Syed, K, Poulter, J.A, Matthews, L, Hughes, T, Watson, E, Johnson, C, Varn, F.S, Bruning-Richardson, A, Hogg, C, Droop, A, Gusnanto, A, Care, M.A, Cutillo, L, Westhead, D.R, Short, S.C, Jenkinson, M.D, Brodbelt, A, Chakrabarty, A, Ismail, A, Verhaak, R.G.W, Stead, L.F

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A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta von Smith, C.E.L, Whitehouse, L.L.E, Poulter, J.A, Wilkinson Hewitt, L, Nadat, F, Jackson, B.R, Manfield, I.W, Edwards, T.A, Rodd, H.D, Inglehearn, C.F, Mighell, A.J

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A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia von Mahmood, T, El-Asrag, M.E, Poulter, J.A, Cardno, A.G, Tomlinson, A, Ahmed, S, Al-Amri, A, Nazari, J, Neill, J, Chamali, R.S, Kiwan, N, Ghuloum, S, Alhaj, H.A, Randerson Moor, J, Khan, S, Al-Amin, H, Johnson, C.A, Woodruff, P, Wilkinson, I.D, Ali, M, Clapcote, S.J, Inglehearn, C.F

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Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress von Brookes, S.J, Barron, M.J, Smith, C.E.L, Poulter, J.A, Mighell, A.J, Inglehearn, C.F, Brown, C.J, Rodd, H, Kirkham, J, Dixon, M.J

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Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis von Ferrada, Marcela A., Savic, Sinisa, Cardona, Daniela Ospina, Collins, Jason C., Alessi, Hugh, Gutierrez-Rodrigues, Fernanda, Kumar, Dinesh Babu Uthaya, Wilson, Lorena, Goodspeed, Wendy, Topilow, James S., Paik, Julie J., Poulter, James A., Kermani, Tanaz A., Koster, Matthew J., Warrington, Kenneth J., Cargo, Catherine, Tattersall, Rachel S., Duncan, Christopher J.A., Cantor, Anna, Hoffmann, Patrycja, Payne, Elspeth M., Bonnekoh, Hanna, Krause, Karoline, Cowen, Edward W., Calvo, Katherine R., Patel, Bhavisha A., Ombrello, Amanda K., Kastner, Daniel L., Young, Neal S., Werner, Achim, Grayson, Peter C., Beck, David B.

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Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience von Al-Hakim, Adam, Poulter, James A, Mahmoud, Dina, Rose, Ailsa M S, Elcombe, Suzanne, Lachmann, Helen, Cargo, Catherine, Duncan, Christopher J A, Bishton, Mark, Bigley, Venetia, Khan, Anjum, Savic, Sinisa

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Randomised, double-blind, placebo-controlled study investigating the effects of inorganic nitrate on vascular function, platelet reactivity and restenosis in stable angina: protoco... von Rathod, Krishnaraj S, Jones, Daniel A, Van-Eijl, T J A, Tsang, Hilda, Warren, Helen, Hamshere, Stephen M, Kapil, Vikas, Jain, Ajay K, Deaner, Andrew, Poulter, Neil, Caulfield, Mark J, Mathur, Anthony, Ahluwalia, Amrita

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Identification of Cys139 and Glu207 As Catalytically Important Groups in the Active Site of Isopentenyl Diphosphate:Dimethylallyl Diphosphate Isomerase von Street, Ian P, Coffman, Hazel R, Poulter, C. Dale, Baker, Jonathan A

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Nonlinear features in wave-resolving microwave radar observations of ocean waves von Stevens, C.L., Poulter, E.M., Smith, M.J., McGregor, J.A.

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Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci von Erzurumluoglu, A.M., Liu, M.Z., Jackson, V.E., Barnes, D.R., Datta, G., Melbourne, C.A., Young, R., Afaq, S., Agrawal, A., Asselbergs, F.W., Bierut, L., Bertelsen, S., Boehnke, M., Bots, M.L., Chambers, J.C., Chang-Claude, J., Chen, C., Leeuw, C.A. de, Dennis, J.G., Easton, D.F., Eaton, C., Elliott, P., Evangelou, E., Faul, J.D., Foroud, T., Haessler, J., Hammerschlag, A.R., Hattersley, A., Heath, A., Hsu, C., Iacono, W.G., Kapoor, M., Kaprio, J., Kardia, S.L., Kontto, J., Kooner, J.S., Kooperberg, C., Laakso, M., Lai, D.B., Langenberg, C., , N. le, Lettre, G., Loukola, A., Mangino, M., Marten, J., Martin, N.G., McGue, M., Michailidou, K., Mihailov, E., Moayyeri, A., Naheed, A., Nauck, M., Neville, M.J., Nielsen, S.F., North, K., Perola, M., Posthuma, D., Poulter, N., Qaiser, B., Renstrom, F., Rice, J., Rohde, R., Samuel, M., Schlessinger, D., Scholte, S.H., Shao, Y.M., Starr, J.M., Stram, D., Stringham, H.M., Tardif, J.C., Tindle, H.A., Tragante, V., Tyrrell, J., Vaartjes, I., Leij, A.R. van der, Meer, P. van der, Wareham, N.J., Warren, H.R., Weir, D.R., Yaghootkar, H., Yavas, E., Jiang, Y., Chen, F., Zhan, X.W., Amouyel, P., Blankenberg, S., Chowdhury, R., Franks, P.W., Jansson, J.H., Jukema, J.W., Nordestgaard, B.G., Palmer, C.N.A., Salomaa, V., Strachan, D.P., Zeggini, E., Saleheen, D., Abecasis, G.R., Tobin, M.D., Vrieze, S., Liu, D.J.J.

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Neurotransmitter receptors and monoamine metabolites in the brains of patients with Alzheimer-type dementia and depression, and suicides von Crow, T.J., Cross, A.J., Cooper, S.J., Deakin, J.F.W., Ferrier, I.N., Johnson, J.A., Joseph, M.H., Owen, F., Poulter, M., Lofthouse, R., Corsellis, J.A.N., Chambers, D.R., Blessed, G., Perry, E.K., Perry, R.H., Tomlinson, B.E.

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