Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. av Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant av Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR

The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomes av Graustein, A, Horne, D, Fong, J, Schwarz, F, Mefford, H, Peterson, G, Wells, R, Musvosvi, M, Shey, M, Hanekom, W, Hatherill, M, Scriba, T, Thuong, N, Mai, N, Caws, M, Bang, N, Dunstan, S, Thwaites, G, Varki, A, Angata, T, Hawn, T

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects av Kruszka, P, Tanpaiboon, P, Neas, K, Crosby, K, Berger, S, Martinez, A, Addissie, Y, Pongprot, Y, Sittiwangkul, R, Silvilairat, S, Makonkawkeyoon, K, Yu, L, Wynn, J, Bennett, J, Mefford, H, Reynolds, W, Liu, X, Mommersteeg, M, Chung, W, Lo, C, Muenke, M

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. av Mefford, H, Sharp, A, Baker, C, Itsara, A, Jiang, Z, Buysse, K, Huang, S, Maloney, V, Crolla, J, Baralle, D, Collins, A, Mercer, C, Norga, K, de Ravel, T, Devriendt, K, Bongers, E, de Leeuw, N, Reardon, W, Gimelli, S, Bena, F, Hennekam, R, Male, A, Gaunt, L, Clayton-Smith, J, Simonic, I

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. av Sharp, A, Mefford, H, Li, K, Baker, C, Skinner, C, Stevenson, R, Schroer, R, Novara, F, De Gregori, M, Ciccone, R, Broomer, A, Casuga, I, Wang, Y, Xiao, C, Barbacioru, C, Gimelli, G, Bernardina, B, Torniero, C, Giorda, R, Regan, R, Murday, V, Mansour, S, Fichera, M, Castiglia, L, Failla, P

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome av van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. av van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. av Martin, H, Kim, G, Pagnamenta, A, Murakami, Y, Carvill, G, Meyer, E, Copley, R, Rimmer, A, Barcia, G, Fleming, MR, Kronengold, J, Brown, MR, Hudspith, K, Broxholme, J, Kanapin, A, Cazier, J, Kinoshita, T, Nabbout, R, Bentley, D, McVean, G, Heavin, S, Zaiwalla, Z, McShane, T, Mefford, H, Shears, D, Stewart, H, Kurian, M, Scheffer, I, Blair, E, Donnelly, P, Kaczmarek, L, Taylor, J