Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Green Snyder L., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A., Pain A., Bernier R., Chawner S.J., David A., Andrieux J., Aylward E., Baujat G., Caldeira I., Conus P., Ferrari C., Forzano F., Gérard M., Goin-Kochel R., Grant E., Hunter J., Isidor B., Jacquette A., Jonch A.E., Keren B., Lacombe D., Le Caignec C., Martin C.L., Männik K., Metspalu A., Mignot C., Mukherjee P., Owen M.J., Passeggeri M., Rooryck-Thambo C., Rosenfeld J.A., Spence S., Steinman K.J., Tjernagel J., Van Haelst M., Shen Y., Draganski B., Sherr E., Ledbetter D., van den Bree M.B., Beckmann J.S., Spiro J., Reymond A., Jacquemont S., Chung W., Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, the 16p11, 2 European Consortium, and the Simons Variation in Individuals Project (VIP) Consortium.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Xia F., Bainbridge M.N., Tan T.Y., Wangler M., Scheuerle A.E., Zackai E.H., Harr M.H., Sutton V.R., Nalam R.L., Zhu W., Nash M., Ryan M.M., Yaplito-Lee J., Hunter J., Deardorff M.A., Penney S.J., Beaudet A., Plon S.E., Boerwinkle E.A., Lupski J., Eng C.M., Muzny D.M., Yang Y., Gibbs R.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Zufferey F., Sherr E., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J., Aylward E., Barker M., Bernier R., Bouquillon S., Conus P., Delobel B., Faucett A., Goin-Kochel R., Grant E., Harewood L., Hunter J., Lebon S., Ledbetter D., Martin C. L., Mannik K., Martinet D., Mukherjee P., Ramocki M.B., Spence S., Steinman K., Tjernagel J., Spiro J., Reymond A., Beckmann J.S., Chung W., Jacquemont S., Simons VIP Consortium, 16p11.2 European Consortium.