Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L E, Smeets, Eric E J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine E L, Kleefstra, Tjitske

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 by Koza, Sylvia A., Tabet, Anne C., Bonaglia, Maria C., Andres, Stephanie, Anderlid, Britt-Marie, Aten, Emmelien, Stiefsohn, Dominique, Evans, D. Gareth, van Ravenswaaij-Arts, Conny M.A., Kant, Sarina G.

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Further delineation of the KBG syndrome caused by ANKRD11 aberrations by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L E, Smeets, Eric E J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine E L, Kleefstra, Tjitske

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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene ( IGSF1 ) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement by Schoenmakers, N, Dr, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken-Koelega, ACS, Del Blanco, D Gorbenko, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, den Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K

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Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region by KANT, S. G, VAN DER WEIJ, A. M, OOSTDIJK, W, WIT, J. M, ROBINSON, D. O, TEMPLE, I. K, MACKAY, D. J. G

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MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria by Scherjon, Sicco A., Liauw, Lishya, Kant, Sarina G.

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Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9 by Kant, Sarina G., Polinkovsky, Alexander, Mundlos, Stefan, Zabel, Bernhard, Thomeer, Ralph T.W.M., Zonderland, Harmien M., Shih, Ling-yu, van Haeringen, Arie, Warman, Matthew L.

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Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p16.3 by KANT, S. G, VAN HAERINGEN, A, BAKKER, E, STEC, I, DONNAI, D, MOLLEVANGER, P, BEVERSTOCK, G. C, LINDEMAN-KUSSE, M. C, VAN OMMEN, G.-J. B

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The Genome of Akkermansia muciniphila, a Dedicated Intestinal Mucin Degrader, and Its Use in Exploring Intestinal Metagenomes by Passel, M.W.J. van, Kant, R, Zoetendal, E.G, Plugge, C.M, Derrien, M.M.N, Malfatti, S.A, Palva, A, Vos, W.M. de, Smidt, H

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