Rezultati pretrage - Roeder, Elizabeth

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review od El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai

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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits, and possibly Diamond-Blackfan anemia od Wat, Margaret J., Enciso, Victoria B., Wiszniewski, Wojciech, Resnick, Trevor, Bader, Patricia, Roeder, Elizabeth R., Freedenberg, Debra, Brown, Chester, Stankiewicz, Pawel, Cheung, Sau-Wai, Scott, Daryl A.

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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features od Roessler, Erich, Du, Yang-Zhu, Mullor, Jose L., Casas, Esther, Allen, William P., Gillessen-Kaesbach, Gabriele, Roeder, Elizabeth R., Ming, Jeffrey E., Altaba, Ariel Ruiz i, Muenke, Maximilian

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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype od Chen, Li, Jensik, Philip J., Alaimo, Joseph T., Walkiewicz, Magdalena, Berger, Seth, Roeder, Elizabeth, Faqeih, Eissa A., Bernstein, Jonathan A., Smith, Ann C. M., Mullegama, Sureni V., Saffen, David W., Elsea, Sarah H.

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Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2 od Ni, Min, Black, Lauren F., Pan, Chunxiao, Vu, Hieu, Pei, Jimin, Ko, Bookyung, Cai, Ling, Solmonson, Ashley, Yang, Chendong, Nugent, Kimberly M., Grishin, Nick V., Xing, Chao, Roeder, Elizabeth, DeBerardinis, Ralph J.

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 od Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan, Lalani, Seema R, Stankiewicz, Pawel, Sutton, V Reid, Cheung, Sau Wai

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Phenotypic manifestations of copy number variation in chromosome 16p13.11 od Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation od Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

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Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1 od Jorgez, Carolina J., Rosenfeld, Jill A., Wilken, Nathan R., Vangapandu, Hima V., Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M. B., Bandholz, Anne, Miller, Amanda, Weaver, David D., Burton, Barbara, Babu, Deepti, Bamforth, John S., Wilks, Timothy, Flynn, Daniel P., Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W., Lupski, James R., Lamb, Dolores J.

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes od Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M., Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M. Lance, Rao, Mitchell, Shao, Lina, South, Sarah T., Coleman, Karlene, Fernhoff, Paul M., Deray, Marcel J., Rosengren, Sally, Roeder, Elizabeth R., Enciso, Victoria B., Chinault, A. Craig, Patel, Ankita, Kang, Sung-Hae L., Shaw, Chad A., Lupski, James R., Cheung, Sau W.

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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications od Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Bi, Weimin, Carvalho, Claudia M. B., Simmons, Alexandra D., Wiszniewska, Joanna, Fang, Ping, Eng, Patricia A., Cooper, M. Lance, Sutton, V. Reid, Roeder, Elizabeth R., Bodensteiner, John B., Delgado, Mauricio R., Prakash, Siddharth K., Belmont, John W., Stankiewicz, Pawel, Berg, Jonathan S., Shinawi, Marwan, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.

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LINE-and Alu-containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV od Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardonofsky, Felix R., Henderson, Cody, Powers, George, Poisson, Virginie, Bérubé, Denis, Oligny, Luc, Michaud, Jacques L., Janssens, Sandra, De Coen, Kris, Van Dorpe, Jo, Dheedene, Annelies, Harting, Matthew T., Weaver, Matthew D., Khan, Amir M., Tatevian, Nina, Wambach, Jennifer, Gibbs, Kathleen A., Popek, Edwina, Gambin, Anna, Stankiewicz, Paweł

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Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems od Ramocki, Melissa B., Bartnik, Magdalena, Szafranski, Przemyslaw, Kołodziejska, Katarzyna E., Xia, Zhilian, Bravo, Jaclyn, Miller, G. Steve, Rodriguez, Diana L., Williams, Charles A., Bader, Patricia I., Szczepanik, Elżbieta, Mazurczak, Tomasz, Antczak-Marach, Dorota, Coldwell, James G., Akman, Cigdem I., McAlmon, Karen, Cohen, Melinda P., McGrath, James, Roeder, Elizabeth, Mueller, Jennifer, Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Bocian, Ewa, Shaw, Chad A., Cheung, Sau Wai, Mazurczak, Tadeusz, Stankiewicz, Paweł

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size od Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R

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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals od Solomon, Benjamin D., Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J., Delgado, Mauricio R., Rosenbaum, Kenneth, Dubourg, Christèle, David, Véronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J., Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, Mcpherson, Elizabeth, Hennekam, Raoul Cm, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W., Thomas, Ronald L., Kenwrick, Sue, Keaton, Amelia, Balog, Joan Z., Hadley, Donald, Zhou, Nan, Long, Robert, Velez, Jorge I., Pineda-Alvarez, Daniel E., Odent, Sylvie, Roessler, Erich, Muenke, Maximilian

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation od Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features od Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel

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Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy od Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, 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., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Pathogenic MAST3 variants in the STK domain are associated with epilepsy od Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick, Ian Andrews, P, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities od Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita

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