Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
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
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
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
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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Elements of morphology: Standard terminology for the periorbital region
Hall, Bryan D., Graham Jr, John M., Cassidy, Suzanne B., Opitz, John M.
Published in American journal of medical genetics. Part A (01.01.2009)
Published in American journal of medical genetics. Part A (01.01.2009)
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Journal Article
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
Borozdin, Wiktor, Graham Jr, John M., Böhm, Detlef, Bamshad, Michael J., Spranger, Stefanie, Burke, Leah, Leipoldt, Michael, Kohlhase, Jürgen
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Tumor disease and associated congenital abnormalities on prenatal MRI
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
Published in European journal of radiology (01.02.2012)
Published in European journal of radiology (01.02.2012)
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Journal Article
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome
Graham Jr, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin
Published in American journal of medical genetics. Part A (01.10.2009)
Published in American journal of medical genetics. Part A (01.10.2009)
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
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.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
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.
Published in American journal of medical genetics. Part A (01.03.2004)
Published in American journal of medical genetics. Part A (01.03.2004)
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Further delineation of Kabuki syndrome in 48 well-defined new individuals
Armstrong, Linlea, Moneim, Azza Abd El, Aleck, Kirk, Aughton, David J., Baumann, Clarisse, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Graham Jr, John M., Grebe, Theresa A., Gripp, Karen W., Hall, Bryan D., Hennekam, Raoul, Hunter, Alasdair, Keppler-Noreuil, Kim, Lacombe, Didier, Lin, Angela E., Ming, Jeffrey E., Kokitsu-Nakata, Nancy Mizue, Nikkel, Sarah M., Philip, Nicole, Raas-Rothschild, Annick, Sommer, Annemarie, Verloes, Alain, Walter, Claudia, Wieczorek, Dagmar, Williams, Marc S., Zackai, Elaine, Allanson, Judith E.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
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.
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
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.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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MED12 related disorders
Graham Jr, John M., Schwartz, Charles E.
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
Graham Jr, John M., Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D., Jones, Kenneth L., Moeschler, John B., Opitz, John M., Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E., Friez, Michael J., Stevenson, Roger E.
Published in American journal of medical genetics. Part A (01.12.2008)
Published in American journal of medical genetics. Part A (01.12.2008)
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
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.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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