The roles of the reprogramming factors Oct4, Sox2 and Klf4 in resetting the somatic cell epigenome during induced pluripotent stem cell generation

por Schmidt, Ryan, Plath, Kathrin
Publicado 2012

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)

por Chang, Melinda Y., Borchert, Mark S., Schmidt, Ryan, Nagiel, Aaron
Publicado 2022

Thiol Quantification Using Colorimetric Thiol–Disulfide Exchange in Nonaqueous Solvents

por Schmidt, Ryan, Logan, Matthew G., Patty, Sarah, Ferracane, Jack L., Pfeifer, Carmem S., Kendall, Alexander J.
Publicado 2023

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

Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

por Hussain, Hafiz Muhammad Jafar, Wang, Meng, Huang, Austin, Schmidt, Ryan, Qian, Xinye, Yang, Paul, Marra, Molly, Li, Yumei, Pennesi, Mark E., Chen, Rui
Publicado 2023

Genome-Wide DNA from Degraded Petrous Bones and the Assessment of Sex and Probable Geographic Origins of Forensic Cases

por Gaudio, Daniel, Fernandes, Daniel M., Schmidt, Ryan, Cheronet, Olivia, Mazzarelli, Debora, Mattia, Mirko, O’Keeffe, Tadhg, Feeney, Robin N. M., Cattaneo, Cristina, Pinhasi, Ron
Publicado 2019

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

Genomes from Verteba cave suggest diversity within the Trypillians in Ukraine

por Gelabert, Pere, Schmidt, Ryan W., Fernandes, Daniel M., Karsten, Jordan K., Harper, Thomas K., Madden, Gwyn D., Ledogar, Sarah H., Sokhatsky, Mykhailo, Oota, Hiroki, Kennett, Douglas J., Pinhasi, Ron
Publicado 2022

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

Integrating buccal and occlusal dental microwear with isotope analyses for a complete paleodietary reconstruction of Holocene populations from Hungary

por Hernando, Raquel, Gamarra, Beatriz, McCall, Ashley, Cheronet, Olivia, Fernandes, Daniel, Sirak, Kendra, Schmidt, Ryan, Lozano, Marina, Szeniczey, Tamás, Hajdu, Tamás, Bárány, Annamária, Kalli, András, Tutkovics, Eszter K., Köhler, Kitti, Kiss, Krisztián, Koós, Judit, Csengeri, Piroska, Király, Ágnes, Horváth, Antónia, Hajdu, Melinda L., Tóth, Krisztián, Patay, Róbert, Feeney, Robin N. M., Pinhasi, Ron
Publicado 2021

Ancient Jomon genome sequence analysis sheds light on migration patterns of early East Asian populations

por Gakuhari, Takashi, Nakagome, Shigeki, Rasmussen, Simon, Allentoft, Morten E., Sato, Takehiro, Korneliussen, Thorfinn, Chuinneagáin, Blánaid Ní, Matsumae, Hiromi, Koganebuchi, Kae, Schmidt, Ryan, Mizushima, Souichiro, Kondo, Osamu, Shigehara, Nobuo, Yoneda, Minoru, Kimura, Ryosuke, Ishida, Hajime, Masuyama, Tadayuki, Yamada, Yasuhiro, Tajima, Atsushi, Shibata, Hiroki, Toyoda, Atsushi, Tsurumoto, Toshiyuki, Wakebe, Tetsuaki, Shitara, Hiromi, Hanihara, Tsunehiko, Willerslev, Eske, Sikora, Martin, Oota, Hiroki
Publicado 2020

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

A genetic history of the pre-contact Caribbean

por Fernandes, Daniel M., Sirak, Kendra A., Ringbauer, Harald, Sedig, Jakob, Rohland, Nadin, Cheronet, Olivia, Mah, Matthew, Mallick, Swapan, Olalde, Iñigo, Culleton, Brendan J., Adamski, Nicole, Bernardos, Rebecca, Bravo, Guillermo, Broomandkhoshbacht, Nasreen, Callan, Kimberly, Candilio, Francesca, Demetz, Lea, Carlson, Kellie Sara Duffett, Eccles, Laurie, Freilich, Suzanne, George, Richard J., Lawson, Ann Marie, Mandl, Kirsten, Marzaioli, Fabio, McCool, Weston C., Oppenheimer, Jonas, Özdogan, Kadir T., Schattke, Constanze, Schmidt, Ryan, Stewardson, Kristin, Terrasi, Filippo, Zalzala, Fatma, Antúnez, Carlos Arredondo, Canosa, Ercilio Vento, Colten, Roger, Cucina, Andrea, Genchi, Francesco, Kraan, Claudia, La Pastina, Francesco, Lucci, Michaela, Maggiolo, Marcio Veloz, Marcheco-Teruel, Beatriz, Maria, Clenis Tavarez, Martínez, Christian, París, Ingeborg, Pateman, Michael, Simms, Tanya M., Sivoli, Carlos Garcia, Vilar, Miguel, Kennett, Douglas J., Keegan, William F., Coppa, Alfredo, Lipson, Mark, Pinhasi, Ron, Reich, David
Publicado 2020