検索結果 - Geiger, Elizabeth

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes 著者: Shaikh, Tamim H., Haldeman-Englert, Chad, Geiger, Elizabeth A., Ponting, Chris P., Webber, Caleb

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An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B 著者: Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

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4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome 著者: Calhoun, Jeffrey Dennis, Gunti, Jonathan, Angione, Katie, Geiger, Elizabeth, Eschbach, Krista, Smith, Garnett, Joshi, Charuta, Shaikh, Tamim, Demarest, Scott, Carvill, Gemma

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Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints 著者: Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.

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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression 著者: Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.

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Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms 著者: Shaikh, Tamim H., O’Connor, Ronald J., Pierpont, Mary Ella, McGrath, James, Hacker, April M., Nimmakayalu, Manjunath, Geiger, Elizabeth, Emanuel, Beverly S., Saitta, Sulagna C.

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A 781-kb Deletion of 13q12.3 in a Patient with Peters Plus Syndrome 著者: Haldeman-Englert, Chad R., Naeem, Taiyabah, Geiger, Elizabeth A., Warnock, Ashley, Feret, Holly, Ciano, Melissa, Davidson, Stefanie L., Deardorff, Matthew A., Zackai, Elaine H., Shaikh, Tamim H.

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Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease... 著者: Yu, Hung-Chun, Coughlin, Curtis R., Geiger, Elizabeth A., Salvador, Blake J., Elias, Ellen R., Cavanaugh, Jean L., Chatfield, Kathryn C., Miyamoto, Shelley D., Shaikh, Tamim H.

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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development 著者: Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.

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A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male with a Complex Rearrangement Involving Chromosomes 6, 10, and 21 著者: Haldeman-Englert, Chad R., Chapman, Kimberly A., Kruger, Hillary, Geiger, Elizabeth A., McDonald-McGinn, Donna M., Rappaport, Eric, Zackai, Elaine H., Spinner, Nancy B., Shaikh, Tamim H.

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A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay 著者: Haldeman-Englert, Chad R., Gai, Xiaowu, Perin, Juan Carlos, Ciano, Melissa, Halbach, Sara S., Geiger, Elizabeth A., McDonald-McGinn, Donna M., Hakonarson, Hakon, Zackai, Elaine H., Shaikh, Tamim H.

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation 著者: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi J L, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities 著者: Quintana, Anita M., Yu, Hung-Chun, Brebner, Alison, Pupavac, Mihaela, Geiger, Elizabeth A., Watson, Abigail, Castro, Victoria L., Cheung, Warren, Chen, Shu-Huang, Watkins, David, Pastinen, Tomi, Skovby, Flemming, Appel, Bruce, Rosenblatt, David S., Shaikh, Tamim H.

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The 22q11 low copy repeats are characterized by unprecedented size and structural variability 著者: Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S., Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A., Coughlin, Curtis R., Chow, Stephen K., McDonald-McGinn, Donna, Morrow, Bernice, Kwok, Pui-Yan, Xiao, Ming, Emanuel, Beverly S., Shaikh, Tamim H., Vermeesch, Joris R.

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 著者: Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.

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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region 著者: Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.

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Copy number variation at 1q21.1 associated with neuroblastoma 著者: Diskin, Sharon J., Hou, Cuiping, Glessner, Joseph T., Attiyeh, Edward F., Laudenslager, Marci, Bosse, Kristopher, Cole, Kristina, Mosse, Yael P., Wood, Andrew, Lynch, Jill E., Pecor, Katlyn, Diamond, Maura, Winter, Cynthia, Wang, Kai, Kim, Cecilia, Geiger, Elizabeth A., McGrady, Patrick W., Blakemore, Alexandra I. F., London, Wendy B., Shaikh, Tamim H., Bradfield, Jonathan, Grant, Struan F. A., Li, Hongzhe, Devoto, Marcella, Rappaport, Eric R., Hakonarson, Hakon, Maris, John M.

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 著者: Baker, Peter R., Friederich, Marisa W., Swanson, Michael A., Shaikh, Tamim, Bhattacharya, Kaustuv, Scharer, Gunter H., Aicher, Joseph, Creadon-Swindell, Geralyn, Geiger, Elizabeth, MacLean, Kenneth N., Lee, Wang-Tso, Deshpande, Charu, Freckmann, Mary-Louise, Shih, Ling-Yu, Wasserstein, Melissa, Rasmussen, Malene B., Lund, Allan M., Procopis, Peter, Cameron, Jessie M., Robinson, Brian H., Brown, Garry K., Brown, Ruth M., Compton, Alison G., Dieckmann, Carol L., Collard, Renata, Coughlin, Curtis R., Spector, Elaine, Wempe, Michael F., Van Hove, Johan L.K.

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High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications 著者: Shaikh, Tamim H., Gai, Xiaowu, Perin, Juan C., Glessner, Joseph T., Xie, Hongbo, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K., D'Arcy, Monica, Frackelton, Edward C., Geiger, Elizabeth A., Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E., Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P., Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C., Ostapenko, Svetlana, Otieno, F. George, Santa, Erin, Shaner, Julie L., Skraban, Robert, Smith, Ryan M., Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B., Zackai, Elaine H., Chiavacci, Rosetta M., Grundmeier, Robert, Rappaport, Eric F., Grant, Struan F.A., White, Peter S., Hakonarson, Hakon

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