Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

por Kogo, Hiroshi, Inagaki, Hidehito, Ohye, Tamae, Kato, Takema, Emanuel, Beverly S., Kurahashi, Hiroki
Publicado 2007

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

por Kato, Takema, Inagaki, Hidehito, Tong, Maoqing, Kogo, Hiroshi, Ohye, Tamae, Yamada, Kouji, Tsutsumi, Makiko, Emanuel, Beverly S, Kurahashi, Hiroki
Publicado 2011

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

por Pastor, Steven, Tran, Oanh, McGinn, Daniel E., Crowley, T. Blaine, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.
Publicado 2022

A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds

por Tang, Zhenya, Berlin, Dorit S., Toji, Lorraine, Toruner, Gokce A., Beiswanger, Christine, Kulkarni, Shashikant, Martin, Christa L., Emanuel, Beverly S., Christman, Michael, Gerry, Norman P.
Publicado 2013

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

por Wenger, Tara L., Kao, Charlly, McDonald-McGinn, Donna M., Zackai, Elaine H., Bailey, Alice, Schultz, Robert T., Morrow, Bernice E., Emanuel, Beverly S., Hakonarson, Hakon
Publicado 2016

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

por Mishra, Divya, Kato, Takema, Inagaki, Hidehito, Kosho, Tomoki, Wakui, Keiko, Kido, Yasuhiro, Sakazume, Satoru, Taniguchi-Ikeda, Mariko, Morisada, Naoya, Iijima, Kazumoto, Fukushima, Yoshimitsu, Emanuel, Beverly S, Kurahashi, Hiroki
Publicado 2014

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

por Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T.
Publicado 2016

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

por Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T.
Publicado 2016

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

por Unolt, Marta, Kammoun, Molka, Nowakowska, Beata, Graham, Gail E., Crowley, T. Blaine, Hestand, Matthew S., Demaerel, Wolfram, Geremek, Maciej, Emanuel, Beverly S., Zackai, Elaine H., Vermeesch, Joris R., McDonald-McGinn, Donna
Publicado 2019

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

por McGinn, Daniel E., Crowley, T. Blaine, Heung, Tracy, Tran, Oanh, Moss, Edward, Zackai, Elaine H., Emanuel, Beverly S., Chow, Eva W. C., Morrow, Bernice E., Swillen, Ann, Bassett, Anne S., McDonald-McGinn, Donna M.
Publicado 2022

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

por Oluwafemi, Omobola O., Musfee, Fadi I., Mitchell, Laura E., Goldmuntz, Elizabeth, Xie, Hongbo M., Hakonarson, Hakon, Morrow, Bernice E., Guo, Tingwei, Taylor, Deanne M., McDonald-McGinn, Donna M., Emanuel, Beverly S., Agopian, A. J.
Publicado 2021

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

por Ron, Hayley A., Crowley, Terrence Blaine, Liu, Yichuan, Unolt, Marta, Schindewolf, Erica, Moldenhauer, Julie, Rychik, Jack, Goldmuntz, Elizabeth, Emanuel, Beverly S., Ryba, Douglas, Gaynor, James William, Zackai, Elaine H., Hakonarson, Hakon, McDonald-McGinn, Donna M.
Publicado 2022

Disrupted anatomic networks in the 22q11.2 deletion syndrome

por Schmitt, J. Eric, Yi, James, Calkins, Monica E., Ruparel, Kosha, Roalf, David R., Cassidy, Amy, Souders, Margaret C., Satterthwaite, Theodore D., McDonald-McGinn, Donna M., Zackai, Elaine H., Gur, Ruben C., Emanuel, Beverly S., Gur, Raquel E.
Publicado 2016

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

por 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.
Publicado 2017

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

por 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.
Publicado 2021

Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome

por Gur, Raquel E., McDonald-McGinn, Donna M., Moore, Tyler M., Gallagher, R. Sean, McClellan, Emily, White, Lauren, Ruparel, Kosha, Hillman, Noah, Crowley, T. Blaine, McGinn, Daniel E., Zackai, Elaine, Emanuel, Beverly S., Calkins, Monica E., Roalf, David R., Gur, Ruben C.
Publicado 2023

A catalog of hemizygous variation in 127 22q11 deletion patients

por Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Publicado 2016

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

por McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
Publicado 2013

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

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

por Cornblath, Eli J., Mahadevan, Arun, He, Xiaosong, Ruparel, Kosha, Lydon-Staley, David M., Moore, Tyler M., Gur, Ruben C., Zackai, Elaine H., Emanuel, Beverly, McDonald-McGinn, Donna M., Wolf, Daniel H., Satterthwaite, Theodore D., Roalf, David R., Gur, Raquel E., Bassett, Dani S.
Publicado 2021