In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells

di Zuleger, Cindy L., Macklin, Michael D., Bostwick, Bret L., Pei, Qinglin, Newton, Michael A., Albertini, Mark R.
Pubblicazione 2010

Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

di Miller, Marcus J., Bostwick, Bret L., Kennedy, Adam D., Donti, Taraka R., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.
Pubblicato in JIMD Rep (2016)

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

di Burk, Caitlin M., Coffey, Kara E., Mace, Emily M., Bostwick, Bret L., Chinn, Ivan K., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Lupski, James R., Ortiz, Damara, Barnum, Jessie L., Allen, Steven W., Robertson, Leanna-Marie, Orange, Jordan S., Chong, Hey J.
Pubblicato in J Allergy Clin Immunol Pract (2019)

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

di Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Pubblicato in Am J Hum Genet (2018)

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

di Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.
Pubblicato in Genome Med (2017)

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

di Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V., Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J., Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S., Robak, Laurie, Bostwick, Bret L., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A., Hanchard, Neil A., Wangler, Michael F., Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W., Burrage, Lindsay C., Graham, Brett H., Sutton, Vernon Reid, Craigen, William J., Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna M., Miller, Marcus J., Wang, Xia, Leduc, Magalie S., Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine, Yang, Yaping, Lalani, Seema R.
Pubblicato in JAMA Pediatr (2017)