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

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

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

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

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

by 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.
Published 2013

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

by 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
Published 2016

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

by 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
Published 2014

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

by 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.
Published 2016

Disrupted anatomic networks in the 22q11.2 deletion syndrome

by 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.
Published 2016

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

by 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.
Published 2016

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

by 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
Published 2013

A catalog of hemizygous variation in 127 22q11 deletion patients

by 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
Published 2016