Now showing items 1-3 of 3

    • Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci 

      Sanders, S. J.; He, X.; Willsey, A. J.; Ercan-Sencicek, A. G.; Samocha, K. E.; Cicek, A. E.; Murtha, M. T.; Bal, V. H.; Bishop, S. L.; Dong, S.; Goldberg, A. P.; Jinlu, C.; Keaney, J. F.; Keaney III, J. F.; Mandell, J. D.; Moreno-De-Luca, D.; Poultney, C. S.; Robinson, E. B.; Smith L.; Solli-Nowlan, T.; Su, M. Y.; Teran, N. A.; Walker, M. F.; Werling, D. M.; Beaudet, A. L.; Cantor, R. M.; Fombonne, E.; Geschwind, D. H.; Grice, D. E.; Lord, C.; Lowe, J. K.; Mane, S. M.; Martin, D.M.; Morrow, E. M.; Talkowski, M. E.; Sutcliffe, J. S.; Walsh, C. A.; Yu, T. W.; Ledbetter, D. H.; Martin, C. L.; Cook, E. H.; Buxbaum, J. D.; Daly, M. J.; Devlin, B.; Roeder, K.; State, M. W. (Cell Press, 2015)
      Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, ...
    • Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy 

      Kolb, L. E.; Arlier, Z.; Yalcinkaya, C.; Ozturk, A. K.; Moliterno, J. A.; Erturk, O.; Bayrakli, F.; Korkmaz, B.; DiLuna, M. L.; Yasuno, K.; Bilguvar, K.; Ozcelik, T.; Tuysuz, B.; State, M. W.; Gunel, M. (Springer, 2010)
      Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...
    • SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome 

      Sabater, L.; Titulaer, M.; Saiz, A.; Verschuuren, J.; Güre, A. O.; Graus, F. (Lippincott Williams & Wilkins, 2008)
      BACKGROUND/OBJECTIVE: We reported that 43% of patients with Lambert-Eaton myasthenic syndrome (LEMS) and small cell lung cancer (SCLC) had an antibody called anti-glial nuclear antibody (AGNA), defined by the immunoreaction ...