Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome von Vivero, M., Cho, M.T., Begtrup, A., Wentzensen, I.M., Walsh, L., Payne, K., Zarate, Y.A., Bosanko, K., Schaefer, G.B., DeBrosse, S., Pollack, L., Mason, K., Retterer, K., DeWard, S., Juusola, J., Chung, W.K.

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Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations von Zarate, Yuri A., Örsell, Jenny-Li, Bosanko, Katherine, Srikanth, Sujata, Cascio, Lauren, Pauly, Rini, Boccuto, Luigi

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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome von Lewis, Hannah, Samanta, Debopam, Örsell, Jenny-Li, Bosanko, Katherine A., Rowell, Amy, Jones, Melissa, Dale, Russell C., Taravath, Sasidharan, Hahn, Cecil D., Krishnakumar, Deepa, Chagnon, Sarah, Keller, Stephanie, Hagebeuk, Eveline, Pathak, Sheel, Bebin, E. Martina, Arndt, Daniel H., Alexander, John J., Mainali, Gayatra, Coppola, Giangennaro, Maclean, Jane, Sparagana, Steven, McNamara, Nancy, Smith, Douglas M., Raggio, Víctor, Cruz, Marcos, Fernández-Jaén, Alberto, Kava, Maina P., Emrick, Lisa, Fish, Jennifer L., Vanderver, Adeline, Helman, Guy, Pierson, Tyler M., Zarate, Yuri A.

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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome von Vivero, M, Cho, M T, Begtrup, A, Wentzensen, I M, Walsh, L, Payne, K, Zarate, Y A, Bosanko, K, Schaefer, G B, DeBrosse, S, Pollack, L, Mason, K, Retterer, K, DeWard, S, Juusola, J, Chung, W K

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability von Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra

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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases von Zarate, Yuri A., Vernon, Hilary J., Bosanko, Katherine A., Ramani, Praveen K., Gokden, Murat, Writzl, Karin, Meznaric, Marija, Vipotnik Vesnaver, Tina, Ramakrishnaiah, Raghu, Osredkar, Damjan

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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants von Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy von Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortes, Fanny M, Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernandez-Chico, Concepcion, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Vergano, Samantha A. Schrier, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan

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PWE-026 An audit of inflammatory bowel disease patients' knowledge of surveillance colonoscopy von Bosanko, N C, Kane, K F

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism von Tanaka, Akemi J, Cho, Megan T, Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A, Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N, Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K, Anderson, Ilse J, Sacoto, Maria J Guillen, Schnur, Rhonda E, Chung, Wendy K

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability von Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan J., Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L, Deardorff, Matthew A., Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S., Dabir, Tabib, Lunde Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Diseases Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Hugo, Gem, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

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Cover Image, Volume 176A, Number 4, April 2018 von Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

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The routine use of a flumazenil infusion following percutaneous endoscopic gastrostomy placement to reduce early post-procedure mortality von Bosanko, N C, Barrett, D, Emm, C, Lycett, W, O'Toole, S, Evans, K, Hearing, S D

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CT in abdominal and pelvic trauma von Roberts, J L, Dalen, K, Bosanko, C M, Jafir, S Z

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Letters von Hudson, Ann, Bosanko, Susan, Bell, Hazel K., Brackney, Michael

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Y.A, Bosanko, K.A, Thomas, M.A, Miller, D.T, Cusmano‐Ozog, K, Martinez‐Monseny, A, Curry, C.J, Graham, J.M, Velsher, L, Bekheirnia, M.R, Seidel, V, Dedousis, D, Mitchell, A.L, DiMarino, A.M, Riess, A, Balasubramanian, M, Fish, J.L, Caffrey, A.R, Fleischer, N, Pierson, T.M, Lacro, R.V

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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases von Zarate, Yuri A, Vernon, Hilary J, Bosanko, Katherine A, Ramani, Praveen K, Gokden, Murat, Writzl, Karin, Meznaric, Marija, Vipotnik Vesnaver, Tina, Ramakrishnaiah, Raghu, Osredkar, Damjan

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Pruritus and paresthesia after IV administration of Gd-DTPA von CHAN, K, BOSANKO, C. M, WANG, A.-M

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