The phenotype of Floating-Harbor syndrome in 10 patients. by White, S, Morgan, A, Da Costa, A, Lacombe, D, Knight, S, Houlston, R, Whiteford, M, Newbury-Ecob, R, Hurst, J

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. by Biancalana, V, Taine, L, Bouix, J, Finck, S, Chauvin, A, De Verneuil, H, Knight, S, Stoll, C, Lacombe, D, Mandel, J

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. by Douglas, J, Cilliers, D, Coleman, K, Tatton-Brown, K, Barker, K, Bernhard, B, Burn, J, Huson, S, Josifova, D, Lacombe, D, Malik, M, Mansour, S, Reid, E, Cormier-Daire, V, Cole, T, Rahman, N

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum by Palmer, EE, Whitton, C, Hashem, MO, Clark, RD, Ramanathan, S, Starr, LJ, Velasco, D, De Dios, JK, Singh, E, Cormier‐Daire, V, Chopra, M, Rodan, LH, Nellaker, C, Lakhani, S, Mallack, EJ, Panzer, K, Sidhu, A, Wentzensen, IM, Lacombe, D, Michaud, V, Alkuraya, FS

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. by Crow, Y, Leitch, A, Hayward, B, Garner, A, Parmar, R, Griffith, E, Ali, M, Semple, C, Aicardi, J, Babul-Hirji, R, Baumann, C, Baxter, P, Bertini, E, Chandler, K, Chitayat, D, Cau, D, Déry, C, Fazzi, E, Goizet, C, King, MD, Klepper, J, Lacombe, D, Lanzi, G, Lyall, H, Martínez-Frías, M

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency by Cottineau, J, Kottemann, M, Lach, F, Kang, Y, Vély, F, Deenick, E, Lazarov, T, Gineau, L, Wang, Y, Farina, A, Chansel, M, Lorenzo, L, Piperoglou, C, Ma, C, Nitschke, P, Belkadi, A, Itan, Y, Boisson, B, Jabot-Hanin, F, Picard, C, Bustamante, J, Eidenschenk, C, Boucherit, S, Aladjidi, N, Lacombe, D, Barat, P, Qasim, W, Hurst, J, Pollard, A, Uhlig, H, Fieschi, C, Michon, J, Bermudez, V, Abel, L, de Villartay, J, Geissmann, F, Tangye, S, Hurwitz, J, Vivier, E, Casanova, J, Smogorzewska, A, Jouanguy, E

Imaging biomarker roadmap for cancer studies by O'Connor, J, Aboagye, E, Adams, J, Aerts, H, Barrington, S, Beer, A, Boellaard, R, Bohndiek, S, Brown, G, Brady, M, Buckley, D, Chenevert, T, Clarke, L, Collette, S, Cook, G, deSouza, N, Dickson, J, Dive, C, Evelhoch, J, Faivre-Finn, C, Gallagher, F, Gilbert, F, Gillies, R, Goh, V, Griffiths, J, Groves, A, Halligan, S, Harris, A, Hawkes, D, Hoekstra, O, Huang, E, Hutton, B, Jackson, E, Jayson, G, Jones, A, Koh, D, Lacombe, D, Lambin, P, Lassau, N, Leach, M, Lee, T, Leen, E, Lewis, L, Liu, Y, Lythgoe, M, Manoharan, P, Maxwell, R, Miles, K, Morgan, B, Morris, S, Ng, T, Padhani, A, Parker, G, Partridge, M, Pathak, A, Peet, A, Punwani, S, Reynolds, A, Robinson, S, Shankar, L, Sharma, R, Soloviev, D, Stroobants, S, Sullivan, D, Taylor, S, Tofts, P, Tozer, G, van Herk, M, Walker-Samuel, S, Wason, J, Williams, K, Workman, P, Yankeelov, T, Brindle, K, McShane, L, Jackson, A, Waterton, J, Partridge, M