ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia von Nizon, M., Küry, S., Péréon, Y., Besnard, T., Quinquis, D., Boisseau, P., Marsaud, T., Magot, A., Mussini, J.‐M., Mayrargue, E., Barbarot, S., Bézieau, S., Isidor, B.

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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion von Chiu, A.T.G., Pei, S.L.C., Mak, C.C.Y., Leung, G.K.C., Yu, M.H.C., Lee, S.L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T.M.‐T., Nambot, S., Faivre, L., Bruel, A.‐L., Rossi, M., Isidor, B., Küry, S., Cogne, B., Besnard, T., Willems, M., Reijnders, M.R.F., Chung, B.H.Y.

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Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients von Chasseuil, E., McGrath, J.A., Seo, A., Balguerie, X., Bodak, N., Chasseuil, H., Denis‐Musquer, M., Goldenberg, A., Goussot, R., Irvine, A.D., Khumalo, N.P., King, M.C., Küry, S., Lipsker, D., Mallet, S., Mayosi, B.M., Nanda, A., Puzenat, E., Salort‐Campana, E., Sidbury, R., Shimamura, A., Bézieau, S., Mercier, S., Barbarot, S.

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A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity von Geiser, Jim, Venken, Koen J T, De Lisle, Robert C, Andrews, Glen K

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Colorectal Hamartomatous Polyposis and Ganglioneuromatosis in a Dog von Bemelmans, I., Küry, S., Albaric, O., Hordeaux, J., Bertrand, L., Nguyen, F., Abadie, J.

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G.P.156 von Mercier, S, Küry, S, Magot, A, Bodak, N, Bou-Hanna, C, Cormier-Daire, V, David, A, Faivre, L, Figarella-Branger, D, Gherardi, R, Goldenberg, A, Hamel, A, Igual, J, Israël-Biet, D, Kannengiesser, C, Laboisse, C, Caignec, C. Le, Munnich, A, Mussini, J.M, Piard, J, Puzenat, E, Salort-Campana, E, Soufir, N, Thauvin, C, Péréon, Y, Mayosi, B, Barbarot, S, Bézieau, S

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Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study von Guaguere, E, Bensignor, E, Küry, S, Degorce-Rubiales, F, Muller, A, Herbin, L, Fontaine, J, André, C

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A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene von Kilic, M., Taskesen, M., Coskun, T., Gürakan, F., Tokatli, A., Sivri, H. S., Dursun, A., Schmitt, S., Küry, S.

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... von Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype von Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Kury, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

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Molecular and Phenotypic Characterization of the RORB -Related Disorder von Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, Jr, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan

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Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica von KÜRY, Sébastien, DEVILDER, Marie-Claire, AVET-LOISEAU, Hervé, DRENO, Brigitte, MOISAN, Jean-Paul

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Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study von Papadimitriou, N, Bull, CJ, Jenab, M, Hughes, DJ, Bell, JA, Sanderson, E, Timpson, NJ, Smith, GD, Albanes, D, Campbell, PT, Küry, S, Le Marchand, L, Ulrich, CM, Visvanathan, K, Figueiredo, JC, Newcomb, PA, Pai, RK, Peters, U, Tsilidis, KK, Boer, JMA, Vincent, EE, Mariosa, D, Gunter, MJ, Richardson, TG, Murphy, N

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Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15 von KÜRY, S, RUBIE, C, MOISAN, J. P, STÖBER, G

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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants von Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E M, Jenkins, M A, Win, A K, Cleary, S P, Koessler, T, Pharoah, P D, Küry, S, Bézieau, S, Buecher, B, Ellis, N A, Peterlongo, P, Offit, K, Aaltonen, L A, Enholm, S, Lindblom, A, Zhou, X-L, Tomlinson, I P, Moreno, V, Blanco, I, Capellà, G, Barnetson, R, Porteous, M E, Dunlop, M G, Farrington, S M

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Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica von Panzer, Rüdiger, Küry, Sébastien, Schmitt, Sébastien, Fölster-Holst, Regina

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Cell-based therapeutic strategies for multiple sclerosis von Scolding, Neil J, Pasquini, Marcelo, Reingold, Stephen C, Cohen, Jeffrey A

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A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica von Kilic, S. S, Giraud, M., Schmitt, S., Bézieau, S., Küry, S.

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk von Zhang, Ben, Jia, Wei-Hua, Matsuda, Koichi, Kweon, Sun-Seog, Matsuo, Keitaro, Xiang, Yong-Bing, Shin, Aesun, Jee, Sun Ha, Kim, Dong-Hyun, Cai, Qiuyin, Long, Jirong, Shi, Jiajun, Wen, Wanqing, Yang, Gong, Zhang, Yanfeng, Li, Chun, Li, Bingshan, Guo, Yan, Ren, Zefang, Ji, Bu-Tian, Pan, Zhi-Zhong, Takahashi, Atsushi, Shin, Min-Ho, Matsuda, Fumihiko, Gao, Yu-Tang, Oh, Jae Hwan, Kim, Soriul, Ahn, Yoon-Ok, Chan, Andrew T, Chang-Claude, Jenny, Slattery, Martha L, Gruber, Stephen B, Schumacher, Fredrick R, Stenzel, Stephanie L, Casey, Graham, Kim, Hyeong-Rok, Jeong, Jin-Young, Park, Ji Won, Li, Hong-Lan, Hosono, Satoyo, Cho, Sang-Hee, Kubo, Michiaki, Shu, Xiao-Ou, Zeng, Yi-Xin, Zheng, Wei

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Genetic architectures of proximal and distal colorectal cancer are partly distinct von Bien, SA, Hampel, H, Figueiredo, JC, Conti, DV, Chen, S, Qu, C, Lin, Y, Barfield, R, Gala, M, Gauderman, WJ, Giles, GG, Grady, WM, Pharoah, PDP, Hampe, J, Hoffmeister, M, Hopper, JL, Huang, W-Y, Jenab, M, Jenkins, MA, Joshi, AD, Keku, TO, Phipps, AI, Kooperberg, C, Kühn, T, Küry, S, Li, CI, Li, L, Lieb, W, Lindblom, A, Männistö, S, Markowitz, SD, Milne, RL, Moreno, L, Murphy, N, Nassir, R, Ogino, S, Parfrey, PS, Qi, L, Raskin, L, Rennert, G, Rennert, HS, Baron, JA, Schafmayer, C, Schoen, RE, Su, Y-R, Thomas, DC, Trichopoulou, A, Cross, AJ, Visvanathan, K, Vodicka, P, Vodickova, L, Vymetalkova, V, Weinstein, SJ, Wolk, A, Woods, MO, Wu, AH, Diergaarde, B, Abecasis, GR, Nickerson, DA, Scacheri, PC, Kundaje, A, Casey, G, Moreno, V, Hayes, RB, Newcomb, PA, Duggan, D, Peters, U, Harlid, S, Imaz, L, Kang, HM, Perduca, V, Perez-Cornago, A, Sakoda, LC, Schumacher, FR, Slattery, ML, Toland, AE, Van Guelpen, B, Agudo, A, Albanes, D, Alonso, MH, Arndt, V, Banbury, BL, Bassik, MC, Berndt, SI, Bézieau, S, Bishop, DT, Boehm, J, Boeing, H, Buch, S, Burnett-Hartman, A, Carr, PR, Castells, A, Chan, AT, Chang-Claude, J, Chanock, SJ, Curtis, KR, De la Chapelle, A, Easton, DF, English, DR, Feskens, EJM

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