GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome von Kang, Seongman, Graham, John M, Olney, Ann Haskins, Biesecker, Leslie G

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Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy von Graham, John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G.J.

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy von Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A.

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The spectrum of mutations in UBE3A causing Angelman syndrome von PING FANG, LEV-LEHMAN, E, LANGLOIS, S, GRAHAM, J. M, BEUTEN, J, WILLEMS, P. J, LEDBETTER, D. H, BEAUDET, A. L, TSAI, T.-F, MATSUURA, T, BENTON, C. S, SUTCLIFFE, J. S, CHRISTIAN, S. L, KUBOTA, T, HALLEY, D. J, MEIJERS-HEIJBOER, H

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FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing von Meyers, G A, Day, D, Goldberg, R, Daentl, D L, Przylepa, K A, Abrams, L J, Graham, Jr, J M, Feingold, M, Moeschler, J B, Rawnsley, E, Scott, A F, Jabs, E W

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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood von Klaassens, M, Reinstein, E, Hilhorst-Hofstee, Y, Schrander, JJP, Malfait, F, Staal, H, ten Have, LC, Blaauw, J, Roggeveen, HCJ, Krakow, D, De Paepe, A, van Steensel, MAM, Pals, G, Graham, JM, Schrander-Stumpel, CTRM

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Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome von Ezgu, F., Krejci, P., Li, S., de Sousa, C., Graham Jr, J.M., Hansmann, I., He, W., Porpora, K., Wand, D., Wertelecki, W., Schneider, A., Wilcox, W.R.

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Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation von Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., McPherson, John D., Gibbs, Richard A., White, Lisa D., Hefner, Margaret, Davenport, Sandra L.H., Graham, John M., Bacino, Carlos A., Glass, Nancy L., Towbin, Jeffrey A., Craigen, William J., Neish, Steven R., Lin, Angela E., Belmont, John W.

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia von NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion von Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham Jr, J. M., Lalande, M., Latt, S. A., Opitz, John M., Reynolds, James F.

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Syndromic Ear Anomalies and Renal Ultrasounds von Wang, Raymond Y, Earl, Dawn L, Ruder, Robert O, Graham Jr, 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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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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The adult phenotype in Costello syndrome von White, Susan M., Graham Jr, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M., Bankier, A.

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Penile biometry on prenatal magnetic resonance imaging von Nemec, S. F., Nemec, U., Weber, M., Brugger, P. C., Bettelheim, D., Rotmensch, S., Krestan, C. R., Rimoin, D. L., Graham, J. M., Prayer, D.

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Abnormalities of the upper extremities on fetal magnetic resonance imaging von Nemec, S. F., Kasprian, G., Brugger, P. C., Bettelheim, D., Amann, G., Nemec, U., Rotmensch, S., Graham, J. M., Rimoin, D. L., Lachman, R. S., Prayer, D.

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis von Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T

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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome von Lyons, M J, Graham, J M, Neri, G, Hunter, A G W, Clark, R D, Rogers, R C, Moscarda, M, Boccuto, L, Simensen, R, Dodd, J, Robertson, S, DuPont, B R, Friez, M J, Schwartz, C E, Stevenson, R E

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Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging von Nemec, S. F., Nemec, U., Weber, M., Kasprian, G., Brugger, P. C., Krestan, C. R., Rotmensch, S., Rimoin, D. L., Graham, J. M., Prayer, D.

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Female external genitalia on fetal magnetic resonance imaging von Nemec, S. F., Nemec, U., Weber, M., Rotmensch, S., Brugger, P. C., Kasprian, G., Krestan, C. R., Rimoin, D. L., Graham, J. M., Prayer, D.

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