Molecular genetics of 22q11.2 deletion syndrome von Morrow, Bernice E., McDonald‐McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.

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Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation von Racedo, Silvia E., McDonald-McGinn, Donna M., Chung, Jonathan H., Goldmuntz, Elizabeth, Zackai, Elaine, Emanuel, Beverly S., Zhou, Bin, Funke, Birgit, Morrow, Bernice E.

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Chromosomal translocations and palindromic AT-rich repeats von Kato, Takema, Kurahashi, Hiroki, Emanuel, Beverly S

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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data von Singh, Larry N, Ennis, Brian, Loneragan, Bryn, Tsao, Noah L, Lopez Sanchez, M Isabel G, Li, Jianping, Acheampong, Patrick, Tran, Oanh, Trounce, Ian A, Zhu, Yuankun, Potluri, Prasanth, Emanuel, Beverly S, Rader, Daniel J, Arany, Zoltan, Damrauer, Scott M, Resnick, Adam C, Anderson, Stewart A, Wallace, Douglas C

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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome von Guo, Tingwei, Chung, Jonathan H., Wang, Tao, McDonald-McGinn, Donna M., Kates, Wendy R., Hawuła, Wanda, Coleman, Karlene, Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.

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Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome von Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.

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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome von Eom, Tae-Yeon, Schmitt, J. Eric, Li, Yiran, Davenport, Christopher M., Steinberg, Jeffrey, Bonnan, Audrey, Alam, Shahinur, Ryu, Young Sang, Paul, Leena, Hansen, Baranda S., Khairy, Khaled, Pelletier, Stephane, Pruett-Miller, Shondra M., Roalf, David R., Gur, Raquel E., Emanuel, Beverly S., McDonald-McGinn, Donna M., Smith, Jesse N., Li, Cai, Christie, Jason M., Northcott, Paul A., Zakharenko, Stanislav S.

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Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements von Emanuel, Beverly S.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements von Emanuel, Beverly S, Saitta, Sulagna C

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Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome von Hasten, Erica, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine, Emanuel, Beverly S, Morrow, Bernice E, Racedo, Silvia E

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Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations von Inagaki, Hidehito, Ohye, Tamae, Kogo, Hiroshi, Tsutsumi, Makiko, Kato, Takema, Tong, Maoqing, Emanuel, Beverly S., Kurahashi, Hiroki

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Mammalian TIMELESS and Tipin are Evolutionarily Conserved Replication Fork-associated Factors von Gotter, Anthony L., Suppa, Christine, Emanuel, Beverly S.

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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome von Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine- Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.

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Subthreshold Psychotic Symptoms in 22q11.2 Deletion Syndrome von Tang, Sunny X., MD, Yi, James J., MD, PhD, Moore, Tyler M., PhD, Calkins, Monica E., PhD, Kohler, Christian G., MD, Whinna, Daneen A., BA, Souders, Margaret C., PhD, CNRP, Zackai, Elaine H., MD, McDonald-McGinn, Donna M., MS, CGC, Emanuel, Beverly S., PhD, Bilker, Warren B., PhD, Gur, Ruben C., PhD, Gur, Raquel E., MD, PhD

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The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome von Niarchou, Maria, Moore, Tyler M, Tang, Sunny X, Calkins, Monica E, McDonald-McGuinn, Donna M, Zackai, Elaine H, Emanuel, Beverly S, Gur, Ruben C, Gur, Raquel E

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Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes von Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.

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Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts von Yi, James J., Weinberger, Ronnie, Moore, Tyler M., Calkins, Monica E., Guri, Yael, McDonald-McGinn, Donna M., Zackai, Elaine H., Emanuel, Beverly S., Gur, Raquel E., Gothelf, Doron, Gur, Ruben C.

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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

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Critical region within 22q11.2 linked to higher rate of autism spectrum disorder von Clements, Caitlin C, Wenger, Tara L, Zoltowski, Alisa R, Bertollo, Jennifer R, Miller, Judith S, de Marchena, Ashley B, Mitteer, Lauren M, Carey, John C, Yerys, Benjamin E, Zackai, Elaine H, Emanuel, Beverly S, McDonald-McGinn, Donna M, Schultz, Robert T

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Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome von Gur, Ruben C., Moore, Tyler M., Weinberger, Ronnie, Mekori‐Domachevsky, Ehud, Gross, Raz, Emanuel, Beverly S., Zackai, Elaine H., Moss, Edward, Gallagher, Robert Sean, McGinn, Daniel E., Crowley, Terrence Blaine, McDonald‐McGinn, Donna, Gothelf, Doron, Gur, Raquel E.

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