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

Volltext

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

Volltext

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analys... von JACKSON, Eric M, SIEVERT, Angela J, XIAOWU GAI, HAKONARSON, Hakon, JUDKINS, Alexander R, TOOKE, Laura, PERIN, Juan Carlos, HONGBO XIE, SHAIKH, Tamim H, BIEGEL, Jaclyn A

Volltext

Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene von Sievert, Angela J., Jackson, Eric M., Gai, Xiaowu, Hakonarson, Hakon, Judkins, Alexander R., Resnick, Adam C., Sutton, Leslie N., Storm, Phillip B., Shaikh, Tamim H., Biegel, Jaclyn A.

Volltext

22q11.2 Low Copy Repeats Expanded in the Human Lineage von Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H, Vermeesch, Joris R

Volltext

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder von Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christopher A, Swanson, Michael A, Minczuk, Michal, Van Hove, Johan L K, Shaikh, Tamim H

Volltext

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

Volltext

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 von BAKER, Peter R, FRIEDERICH, Marisa W, 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, SWANSON, Michael A, 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, SHAIKH, Tamim, BHATTACHARYA, Kaustuv, SCHARER, Gunter H, AICHER, Joseph, CREADON-SWINDELL, Geralyn, GEIGER, Elizabeth, MACLEAN, Kenneth N

Volltext

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

Volltext

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing von Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

Volltext

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

Volltext

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics von Gai, Xiaowu, Perin, Juan C, Murphy, Kevin, O'Hara, Ryan, D'arcy, Monica, Wenocur, Adam, Xie, Hongbo M, Rappaport, Eric F, Shaikh, Tamim H, White, Peter S

Volltext

Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms von Demarest, Scott, Calhoun, Jeff, Eschbach, Krista, Yu, Hung‐Chun, Mirsky, David, Angione, Katie, Shaikh, Tamim H, Carvill, Gemma L, Benke, Tim A, Geiger, Elizabeth A, Gunti, Jonathan, Vanderveen, Gina

Volltext

Copy number variation at 1q21.1 associated with neuroblastoma von Diskin, Sharon J., Hou, Cuiping, Glessner, Joseph T., Attiyeh, Edward F., Laudenslager, Marci, Bosse, Kristopher, Cole, Kristina, Mossé, Yaël 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.

Volltext

Genome-wide copy number variations in a large cohort of bantu African children von Yilmaz, Feyza, Null, Megan, Astling, David, Yu, Hung-Chun, Cole, Joanne, Santorico, Stephanie A, Hallgrimsson, Benedikt, Manyama, Mange, Spritz, Richard A, Hendricks, Audrey E, Shaikh, Tamim H

Volltext

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns von Coughlin, 2nd, Curtis R, Scharer, Gunter H, Shaikh, Tamim H

Volltext

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 von Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A, Shaffer, Lisa G

Volltext

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

Volltext

Copy Number Variation Disorders von Shaikh, Tamim H.

Volltext

The co‐occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? von Rachubinski, Angela L., Hepburn, Susan, Elias, Ellen R., Gardiner, Katheleen, Shaikh, Tamim H.

Volltext