Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by 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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Fetal constraint as a potential risk factor for craniosynostosis by 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 by Hall, Bryan D., Graham Jr, John M., Cassidy, Suzanne B., Opitz, John M.

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Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by Graham Jr, John M., Schwartz, Charles E.

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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome by 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 by 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... by 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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Personal journeys to and in human genetics and dysmorphology by Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.

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Non-Cystic Fibrosis−Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing by Woods, Jeremy D., Payton, Kurlen S.E., Sanchez-Lara, Pedro A., Au, Margaret, Simmons, Charles F., Graham, John M.

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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25 by Burkardt, Deepika D'Cunha, Rosenfeld, Jill A., Helgeson, Maria L., Angle, Brad, Banks, Valerie, Smith, Wendy E., Gripp, Karen W., Moline, Jessica, Moran, Rocio T., Niyazov, Dmitriy M., Stevens, Cathy A., Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas G., Kramer, Nancy, Lachman, Ralph S., Graham Jr, John M.

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