Eco-cities: the mainstreaming of urban sustainability – key characteristics and driving factors by Joss, S.

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Eco-cities: A Global Survey 2009 by Joss, S

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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females by Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

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Detecting and quantifying uranium-series disequilibrium in natural samples for dosimetric dating applications by Abdualhadi, S.A., Mauz, B., Joss, S.D.T., Nolan, P.J.

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De novo variants in CNOT3 cause a variable neurodevelopmental disorder by Martin, R, Splitt, M, Genevieve, D, Aten, E, Collins, A, de Bie, C I, Faivre, L, Foulds, N, Giltay, J, Ibitoye, R, Joss, S, Kennedy, J, Kerr, B, Kivuva, E, Koopmans, M, Newbury-Ecob, R, Jean-Marçais, N, Peeters, E A J, Smithson, S, Tomkins, S, Tranmauthem, F, Piton, A, van Haeringen, A

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Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients by Tefs, Katrin, Gueorguieva, Maria, Klammt, Jürgen, Allen, Carl M., Aktas, Dilek, Anlar, Fehim Y., Aydogdu, Sultan D., Brown, Deborah, Ciftci, Ergin, Contarini, Patricia, Dempfle, Carl-Erik, Dostalek, Miroslav, Eisert, Susanne, Gökbuget, Aslan, Günhan, Ömer, Hidayat, Ahmed A., Hügle, Boris, Isikoglu, Mete, Irkec, Murat, Joss, Shelagh K., Klebe, Sonja, Kneppo, Carolin, Kurtulus, Idil, Mehta, Rakesh P., Örnek, Kemal, Schneppenheim, Reinhard, Seregard, Stefan, Sweeney, Elizabeth, Turtschi, Stephanie, Veres, Gabor, Zeitler, Petra, Ziegler, Maike, Schuster, Volker

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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syn... by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome by Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X

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G25  RASA1 Mutations and Vein of Galen Arterial Malformations by Heuchan, AM, Joss, S, Berg, J, Suri, M, Bhattacharya, J

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A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome by Richardson, R J, Joss, S, Tomkin, S, Ahmed, M, Sheridan, E, Dixon, M J

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Eco-city Indicators: Governance Challenges by Joss, S, Tomozeiu, D, Cowley, R

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Genetic and immune findings in complex febrile seizures and the epidemiology of Dravet syndrome: A nationwide cohort study by Symonds, J.D, Lang, B, Vincent, A, Brunklaus, A, Dorris, L, Ellis, R, Jollands, A, Joss, S, Kirkpatrick, M, McLellan, A, MacLeod, S, O'Regan, M, Pilz, D.T, Reavey, E, Stewart, K, Williams, N, Zuberi, S.M

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability by Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

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G150 Aetiological investigations and treatment outcomes in a prospective population-based cohort of children with epilepsy <3 years by Symonds, JD, Elliott, KS, Knight, JC, Brunklaus, A, Joss, S, MacLeod, S, Pilz, DT, Zuberi, SM

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences by Baker, Kate, Devine, Rory T., Ng-Cordell, Elise, Raymond, F. Lucy, Hughes, Claire

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants by Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions by Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth by Loveday, Chey, Tatton-Brown, Katrina, Clarke, Matthew, Westwood, Isaac, Renwick, Anthony, Ramsay, Emma, Nemeth, Andrea, Campbell, Jennifer, Joss, Shelagh, Gardner, McKinlay, Zachariou, Anna, Elliott, Anna, Ruark, Elise, van Montfort, Rob, Rahman, Nazneen

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Nasal speech in patients with 12q15 microdeletions by Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing by Hocking, Lynne J, Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J, O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J, Miedzybrodzka, Zosia

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