Developmental Trajectories in 22q11.2 Deletion

Por Swillen, Ann, McDonald-McGinn, Donna M.
Publicado no Am J Med Genet C Semin Med Genet (2015)

Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome

Por John, Anitha S., McDonald-McGinn, Donna M., Zackai, Elaine H., Goldmuntz, Elizabeth
Publicado em 2009

Obituary of Dr. Angelo Di George

Por Mc Donald-McGinn Donna M, Dallapiccola Bruno, Digilio Maria C, Tarani Luigi, Marino Bruno
Publicado em 2010-03-01

Obituary of Dr. Angelo Di George

Por Tarani, Luigi, Digilio, Maria C, Dallapiccola, Bruno, Mc Donald-McGinn, Donna M, Marino, Bruno
Publicado em 2010

CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features

Por Jyonouchi, Soma, McDonald-McGinn, Donna M., Bale, Sherri, Zackai, Elaine H., Sullivan, Kathleen E.
Publicado em 2009

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Por Smith, Christopher A., Driscoll, Deborah A., Emanuel, Beverly S., McDonald-McGinn, Donna M., Zackai, Elaine H., Sullivan, Kathleen E.
Publicado em 1998

Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome

Por Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann
Publicado em 2007

Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2

Por Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.
Publicado em 2009

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

Por Machado, Alexei M. C., Simon, Tony J., Nguyen, Vy, McDonald-McGinn, Donna M., Zackai, Elaine H., Gee, James C.
Publicado em 2006

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Por Fine, Sarah E., Weissman, Alison, Gerdes, Marsha, Pinto-Martin, Jennifer, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.
Publicado em 2005

Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

Por Racedo, Silvia E., McDonald-McGinn, Donna M., Chung, Jonathan H., Goldmuntz, Elizabeth, Zackai, Elaine, Emanuel, Beverly S., Zhou, Bin, Funke, Birgit, Morrow, Bernice E.
Publicado no Am J Hum Genet (2015)

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 no Sci Rep (2016)

Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome

Por Saitta, Sulagna C., Harris, Stacy E., McDonald-McGinn, Donna M., Emanuel, Beverly S., Tonnesen, Melissa K., Zackai, Elaine H., Seitz, Suzanne C., Driscoll, Deborah A.
Publicado em 2004

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

Por 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.
Publicado no Am J Hum Genet (2015)

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

Por SIMON, TONY J., BISH, JOEL P., BEARDEN, CARRIE E., DING, LIJUN, FERRANTE, SAMANTHA, NGUYEN, VY, GEE, JAMES C., McDONALD–McGINN, DONNA M., ZACKAI, ELAINE H., EMANUEL, BEVERLY S.
Publicado em 2005

A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male with a Complex Rearrangement Involving Chromosomes 6, 10, and 21

Por Haldeman-Englert, Chad R., Chapman, Kimberly A., Kruger, Hillary, Geiger, Elizabeth A., McDonald-McGinn, Donna M., Rappaport, Eric, Zackai, Elaine H., Spinner, Nancy B., Shaikh, Tamim H.
Publicado em 2010

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Por Bassett, Anne S., McDonald-McGinn, Donna M., Devriendt, Koen, Digilio, Maria Cristina, Goldenberg, Paula, Habel, Alex, Marino, Bruno, Oskarsdottir, Solveig, Philip, Nicole, Sullivan, Kathleen, Swillen, Ann, Vorstman, Jacob
Publicado em 2011

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 no Mol Autism (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 no Mol Autism (2016)

A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

Por Haldeman-Englert, Chad R., Gai, Xiaowu, Perin, Juan Carlos, Ciano, Melissa, Halbach, Sara S., Geiger, Elizabeth A., McDonald-McGinn, Donna M., Hakonarson, Hakon, Zackai, Elaine H., Shaikh, Tamim H.
Publicado no Eur J Med Genet (2008)