Výsledky vyhledávání - Hurst, Anna C E

Dysmorphology in the Era of Genomic Diagnosis Autor Hurst, Anna C. E., Robin, Nathaniel H.

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Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report Autor Kerr, Elizabeth R., Stuhlmiller, Gary M., Maha, George C., Ladd, Mark A., Mikhail, Fady M., Koester, Ruth P., Hurst, Anna C. E.

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Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis Autor Kazamel, Mohamed, Lopez, Michael A., Bebin, Martina, Bowling, Kevin, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Hurst, Anna C.E., Ubogu, Eroboghene E.

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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy Autor Pinard, Amélie, Fiander, Maximillian D.J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C.E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

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A State-Based Approach to Genomics for Rare Disease and Population Screening Autor East, Kelly M., Kelley, Whitley V., Cannon, Ashley, Cochran, Meagan E., Moss, Irene P., May, Thomas, Nakano-Okuno, Mariko, Sodeke, Stephen O., Edberg, Jeffrey C., Cimino, James J., Fouad, Mona, Curry, William A., Hurst, Anna C.E., Bowling, Kevin M., Thompson, Michelle L., Bebin, E. Martina, Johnson, Robert D., Cooper, Gregory M., Might, Matthew, Barsh, Gregory S., Korf, Bruce R.

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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Autor Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome Autor Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway Autor Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Autor Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome Autor Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Lane Rutledge, S., Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.

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Genome sequencing as a first-line diagnostic test for hospitalized infants Autor Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Autor Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients Autor Le Coz, Carole, Nguyen, David N., Su, Chun, Nolan, Brian E., Albrecht, Amanda V., Xhani, Suela, Sun, Di, Demaree, Benjamin, Pillarisetti, Piyush, Khanna, Caroline, Wright, Francis, Chen, Peixin Amy, Yoon, Samuel, Stiegler, Amy L., Maurer, Kelly, Garifallou, James P., Rymaszewski, Amy, Kroft, Steven H., Olson, Timothy S., Seif, Alix E., Wertheim, Gerald, Grant, Struan F.A., Vo, Linda T., Puck, Jennifer M., Sullivan, Kathleen E., Routes, John M., Zakharova, Viktoria, Shcherbina, Anna, Mukhina, Anna, Rudy, Natasha L., Hurst, Anna C.E., Atkinson, T. Prescott, Boggon, Titus J., Hakonarson, Hakon, Abate, Adam R., Hajjar, Joud, Nicholas, Sarah K., Lupski, James R., Verbsky, James, Chinn, Ivan K., Gonzalez, Michael V., Wells, Andrew D., Marson, Alex, Poon, Gregory M.K., Romberg, Neil

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Autor Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Autor Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families Autor Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

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