m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome

por Jean, Jeffrey, Christodoulou, Eirini, Gai, Xiaowu, Tamrazi, Benita, Vera, Moin, Mitchell, Wendy G., Schmidt, Ryan J.
Publicado 2022

Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping

por Jean, Jeffrey, Kovach, Alexandra E., Doan, Andrew, Oberley, Matthew, Ji, Jianling, Schmidt, Ryan J., Biegel, Jaclyn A., Bhojwani, Deepa, Raca, Gordana
Publicado 2022

Spatially resolved detection of small molecules from press‐dried plant tissue using MALDI imaging

por Long, Zane G., Le, Jonathan V., Katz, Benjamin B., Lopez, Belen G., Tenenbaum, Emily D., Semmling, Bonnie, Schmidt, Ryan J., Grün, Felix, Butts, Carter T., Martin, Rachel W.
Publicado 2023

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects

por Munabi, Naikhoba C. O., Mikhail, Shady, Toubat, Omar, Webb, Michelle, Auslander, Allyn, Sanchez‐Lara, Pedro A., Manojlovic, Zarko, Schmidt, Ryan J., Craig, David, Magee, William P., Kumar, Subramanyan Ram
Publicado 2022

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Gene...

por Manojlovic, Zarko, Auslander, Allyn, Jin, Yuxin, Schmidt, Ryan J., Xu, Yili, Chang, Sharon, Song, Ruocen, Ingles, Sue A., Nunes, Alana, Vavra, KC, Feigelson, Devin, Rakotoarison, Sylvia, DiBona, Melissa, Magee, Kathy, Smile, Operation, Ramamonjisoa, Anjaramamy, Magee III, William
Publicado 2023

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

por Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Publicado 2018

Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults

por Ji, Jianling, Kaneva, Kristiyana, Hiemenz, Matthew C, Dhall, Girish, Davidson, Tom Belle, Erdreich-Epstein, Anat, Hawes, Debra, Hurth, Kyle, Margol, Ashley S, Mathew, Anna J, Robison, Nathan J, Schmidt, Ryan J, Tran, Hung N, Judkins, Alexander R, Cotter, Jennifer A, Biegel, Jaclyn A
Publicado 2021

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

por Zhao, Yan, Wang, Lee-kai, Eskin, Ascia, Kang, Xuedong, Fajardo, Viviana M., Mehta, Zubin, Pineles, Stacy, Schmidt, Ryan J., Nagiel, Aaron, Satou, Gary, Garg, Meena, Federman, Myke, Reardon, Leigh C., Lee, Steven L., Biniwale, Reshma, Grody, Wayne W., Halnon, Nancy, Khanlou, Negar, Quintero-Rivera, Fabiola, Alejos, Juan C., Nakano, Atsushi, Fishbein, Gregory A., Van Arsdell, Glen S., Nelson, Stanley F., Touma, Marlin
Publicado 2021