Obituary of Dr. Angelo Di George

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

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

por Solot, Cynthia B., Sell, Debbie, Mayne, Anne, Baylis, Adriane L., Persson, Christina, Jackson, Oksana, McDonald-McGinn, Donna M.
Publicado 2019

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

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants

por Verbesselt, Jente, Solot, Cynthia B., Van Den Heuvel, Ellen, Crowley, T. Blaine, Giunta, Victoria, Breckpot, Jeroen, McDonald-McGinn, Donna M., Zink, Inge, Swillen, Ann
Publicado 2023

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

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome

por Benn, Peter, Iyengar, Sushma, Crowley, Terrence Blaine, Zackai, Elaine H., Burrows, Evanette K., Moshkevich, Solomon, McDonald‐McGinn, Donna M., Sullivan, Kathleen E., Demko, Zachary
Publicado 2017

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

Club foot in association with the 22q11.2 deletion syndrome: An observational study

por Homans, Jelle F., Crowley, Terrence B., Chen, Erin, McGinn, Daniel E., Deeney, Vincent F. X., Sakkers, Ralph J. B., Davidson, Richard S., Castelein, René M., McDonald‐McGinn, Donna M.
Publicado 2018

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

por Evans, D. Gareth, Messiaen, Ludwine M., Foulkes, William D., Irving, Rachel E. A., Murray, Alexandra J., Perez-Becerril, Cristina, Rivera, Barbara, McDonald-McGinn, Donna M., Stevenson, David A., Smith, Miriam J.
Publicado 2021

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

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome

por Moore, Tyler M., Salzer, Deby, Bearden, Carrie E., Calkins, Monica E., Kates, Wendy R., Kushan, Leila, Gallagher, Robert Sean, Frumer, Dafna Sofrin, Weinberger, Ronnie, McDonald-McGinn, Donna M., Gur, Raquel E., Gothelf, Doron
Publicado 2021

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

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis

por de Reuver, Steven, Homans, Jelle F., Schlösser, Tom P. C., Houben, Michiel L., Deeney, Vincent F. X., Crowley, Terrence B., Stücker, Ralf, Pasha, Saba, Kruyt, Moyo C., McDonald-McGinn, Donna M., Castelein, René M.
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

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

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research

por White, Lauren K., Crowley, T. Blaine, Finucane, Brenda, McClellan, Emily J., Donoghue, Sarah, Garcia-Minaur, Sixto, Repetto, Gabriela M., Fischer, Matthias, Jacquemont, Sebastien, Gur, Raquel E., Maillard, Anne M., Donald, Kirsten A., Bassett, Anne S., Swillen, Ann, McDonald-McGinn, Donna M.
Publicado 2023