检索结果 - Hurst, Anna C E

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

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Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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