Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly von Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 von Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A

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Fetal constraint as a potential risk factor for craniosynostosis von Sanchez-Lara, Pedro A., Carmichael, Suzan L., Graham Jr, John M., Lammer, Edward J., Shaw, Gary M., Ma, Chen, Rasmussen, Sonja A.

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Elements of morphology: Standard terminology for the periorbital region von Hall, Bryan D., Graham Jr, John M., Cassidy, Suzanne B., Opitz, John M.

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Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY von Visootsak, Jeannie, Graham Jr, John M.

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Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura von Seeger, John, Slavotinek, A. M., Kunz, Liza H., Graham, John M., Cantor, Alan B., Carman, Wendy J., Wyszynski, Diego F., Kirby, Russell S.

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Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY von Visootsak, Jeannie, Rosner, Beth, Dykens, Elisabeth, Tartaglia, Nicole, Graham Jr, John M.

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay von Borozdin, Wiktor, Graham Jr, John M., Böhm, Detlef, Bamshad, Michael J., Spranger, Stefanie, Burke, Leah, Leipoldt, Michael, Kohlhase, Jürgen

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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes von Gleeson, Joseph G., Keeler, Lesley C., Parisi, Melissa A., Marsh, Sarah E., Chance, Phillip F., Glass, Ian A., Graham Jr, John M., Maria, Bernard L., Barkovich, A. James, Dobyns, William B.

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons von Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum von Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

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Tumor disease and associated congenital abnormalities on prenatal MRI von Nemec, Stefan F, Horcher, Ernst, Kasprian, Gregor, Brugger, Peter C, Bettelheim, Dieter, Amann, Gabriele, Nemec, Ursula, Rotmensch, Siegfried, Rimoin, David L, Graham Jr., John M, Prayer, Daniela

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Klinefelter syndrome and other sex chromosomal aneuploidies von Visootsak, Jeannie, Graham, Jr, John M

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A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures von Veale, Emma L, Golluscio, Alessia, Grand, Katheryn, Graham, Jr, John M, Mathie, Alistair

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms von Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul‐Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane‐Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel‐Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik‐Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

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MED12 related disorders von Graham Jr, John M., Schwartz, Charles E.

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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome von Graham Jr, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions von Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R

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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... von Mirzaa, Ghayda M., Conway, Robert L., Gripp, Karen W., Lerman-Sagie, Tally, Siegel, Dawn H., deVries, Linda S., Lev, Dorit, Kramer, Nancy, Hopkins, Elizabeth, Graham Jr, John M., Dobyns, William B.

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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome von McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark, Boycott, Kym M

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