Search Results - Geiger, Elizabeth

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  1. 1
    Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

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

    Published 2011
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  2. 2
    An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B

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

    Published 2014
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  3. 3
    4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome

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

    Published 2020
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  4. 4
    Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

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

    Published 2010
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  5. 5
    Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

    Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression by 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.

    Published 2014
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  6. 6
    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms by 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.

    Published 2007
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  7. 7
    A 781-kb Deletion of 13q12.3 in a Patient with Peters Plus Syndrome

    A 781-kb Deletion of 13q12.3 in a Patient with Peters Plus Syndrome by 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.

    Published 2009
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  8. 8
    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 and restrictive cardiomyopathy

    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... by 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.

    Published 2016
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  9. 9
    Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

    Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development by 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.

    Published 2015
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  10. 10
    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

    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 by 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.

    Published 2010
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  11. 11
    A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

    A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay by 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.

    Published 2008
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  12. 12
    Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

    Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation by 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

    Published 2021
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  13. 13
    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities by 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.

    Published 2017
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  14. 14
    The 22q11 low copy repeats are characterized by unprecedented size and structural variability

    The 22q11 low copy repeats are characterized by unprecedented size and structural variability by 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.

    Published 2019
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  15. 15
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 by 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.

    Published 2013
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  16. 16
    Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

    Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region by 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.

    Published 2009
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  17. 17
    Copy number variation at 1q21.1 associated with neuroblastoma

    Copy number variation at 1q21.1 associated with neuroblastoma by 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.

    Published 2009
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  18. 18
    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 by 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.

    Published 2014
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  19. 19
    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications by 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

    Published 2009
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