Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

por Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H
Publicado 2012

Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish

por Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
Publicado 2020

22q11.2 Low Copy Repeats Expanded in the Human Lineage

por Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H., Vermeesch, Joris R.
Publicado 2021

4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome

por Calhoun, Jeffrey Dennis, Gunti, Jonathan, Angione, Katie, Geiger, Elizabeth, Eschbach, Krista, Smith, Garnett, Joshi, Charuta, Shaikh, Tamim, Demarest, Scott, Carvill, Gemma
Publicado 2020

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

por Gonzalez-Alegre, Pedro, Di Paola, Jorge, Wang, Kai, Fabbro, Shay, Yu, Hung-Chun, Shaikh, Tamim H., Darbro, Benjamin W., Bassuk, Alexander G.
Publicado 2014

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

por 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
Publicado 2010

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans

por Null, Megan, Yilmaz, Feyza, Astling, David, Yu, Hung-Chun, Cole, Joanne B., Hallgrímsson, Benedikt, Santorico, Stephanie A., Spritz, Richard A., Shaikh, Tamim H., Hendricks, Audrey E.
Publicado 2021

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...

por 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.
Publicado 2016

Genome-wide copy number variations in a large cohort of bantu African children

por 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.
Publicado 2021

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

por 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.
Publicado 2023

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

por 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.
Publicado 2019

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

por Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Publicado 2009

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

por Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., Galver, Luana, Barrett, Jeffrey C., Grant, Struan F. A., Farlow, Deborah N., Chandrupatla, Hareesh R., Hansen, Mark, Ajmal, Saad, Papanicolaou, George J., Guo, Yiran, Li, Mingyao, DerOhannessian, Stephanie, de Bakker, Paul I. W., Bailey, Swneke D., Montpetit, Alexandre, Edmondson, Andrew C., Taylor, Kent, Gai, Xiaowu, Wang, Susanna S., Fornage, Myriam, Shaikh, Tamim, Groop, Leif, Boehnke, Michael, Hall, Alistair S., Hattersley, Andrew T., Frackelton, Edward, Patterson, Nick, Chiang, Charleston W. K., Kim, Cecelia E., Fabsitz, Richard R., Ouwehand, Willem, Price, Alkes L., Munroe, Patricia, Caulfield, Mark, Drake, Thomas, Boerwinkle, Eric, Reich, David, Whitehead, A. Stephen, Cappola, Thomas P., Samani, Nilesh J., Lusis, A. Jake, Schadt, Eric, Wilson, James G., Koenig, Wolfgang, McCarthy, Mark I., Kathiresan, Sekar, Gabriel, Stacey B., Hakonarson, Hakon, Anand, Sonia S., Reilly, Muredach, Engert, James C., Nickerson, Deborah A., Rader, Daniel J., Hirschhorn, Joel N., FitzGerald, Garret A.
Publicado 2008

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

por Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Publicado 2010

Microduplications of 16p11.2 are Associated with Schizophrenia

por McCarthy, Shane, Makarov, Vladimir, Kirov, George, Addington, Anjene, McClellan, Jon, Yoon, Seungtai, Perkins, Dianna, Dickel, Diane E., Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A., Grozeva, Detelina, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H., Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D., Spinner, Nancy B., Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B., Leotta, Anthony, Kendall, Jude, Lee, Yoon-ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia, Crow, Timothy J., Christian, Susan L., Lieberman, Jeffrey, Stroup, Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L., DeRosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J., Malhotra, Anil K., Potash, James B., Schulze, Thomas G., Nöthen, Markus M., Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M., Sutcliffe, James S., Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R., Craddock, Nick, Owen, Michael J., O’Donovan, Michael C., Shaikh, Tamim H., Susser, Ezra, DeLisi, Lynn E., Sullivan, Patrick F., Deutsch, Curtis K., Rapoport, Judith, Levy, Deborah L., King, Mary-Claire, Sebat, Jonathan
Publicado 2009