The Genomics of Neonatal Abstinence Syndrome

por Cole, F. Sessions, Wegner, Daniel J., Davis, Jonathan M.
Publicado 2017

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

por Stone, Stephen I, Wegner, Daniel J, Wambach, Jennifer A, Cole, F Sessions, Urano, Fumihiko, Ornitz, David M
Publicado 2020

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

por van Meel, Eline, Wegner, Daniel J, Cliften, Paul, Willing, Marcia C, White, Frances V, Kornfeld, Stuart, Cole, F Sessions
Publicado 2013

Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome

por King, Katherine Abell, Wegner, Daniel J., Bucelli, Robert C., Shapiro, Jessica, Paul, Alexander J., Dickson, Patricia I., Wambach, Jennifer A.
Publicado 2022

Precise breakpoint detection in a patient with 9p– syndrome

por Ng, Jeffrey, Sams, Eleanor, Baldridge, Dustin, Kremitzki, Milinn, Wegner, Daniel J., Lindsay, Tina, Fulton, Robert, Cole, F. Sessions, Turner, Tychele N.
Publicado 2020

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations

por Coghlan, Meghan A, Shifren, Adrian, Huang, Howard J, Russell, Tonya D, Mitra, Robi D, Zhang, Qunyuan, Wegner, Daniel J, Cole, F Sessions, Hamvas, Aaron
Publicado 2014

Developmental and Genetic Regulation of Human Surfactant Protein B in vivo

por Hamvas, Aaron, Heins, Hillary B., Guttentag, Susan H., Wegner, Daniel J., Trusgnich, Michelle A., Bennet, Kate W., Yang, Ping, Carlson, Christopher S., An, Ping, Cole, F. Sessions
Publicado 2009

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

por Towe, Christopher T., White, Frances V., Grady, R. Mark, Sweet, Stuart C., Eghtesady, Pirooz, Wegner, Daniel J., Sen, Partha, Szafranski, Przemyslaw, Stankiewicz, Pawel, Hamvas, Aaron, Cole, F. Sessions, Wambach, Jennifer A.
Publicado 2018

Quantification of rare allelic variants from pooled genomic DNA

por Druley, Todd E, Vallania, Francesco LM, Wegner, Daniel J, Varley, Katherine E, Knowles, Olivia L, Bonds, Jacqueline A, Robison, Sarah W, Doniger, Scott W, Hamvas, Aaron, Cole, F. Sessions, Fay, Justin C, Mitra, Robi D
Publicado 2009

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

por Wambach, Jennifer A., Wegner, Daniel J., Yang, Ping, Shinawi, Marwan, Baldridge, Dustin, Betleja, Ewelina, Shimony, Joshua S., Spencer, David, Hackett, Brian P., Andrews, Marisa V., Ferkol, Thomas, Dutcher, Susan K., Mahjoub, Moe R., Cole, F. Sessions
Publicado 2018

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

por Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B., LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N., Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R., Liu, Pengfei, Wegner, Daniel J., Paul, Alexander J., Sunyaev, Shamil R., Kohane, Isaac S.
Publicado 2021

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

por Krantz, Ian D., Medne, Livija, Weatherly, Jamila M., Wild, K. Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P., Abdul-Rahman, Omar, Euteneuer, Joshua C., Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J., Vargas-Shiraishi, Ofelia M., Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A., Baldridge, Dustin, Cole, F. Sessions, Wegner, Daniel J., Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J., Pivnick, Eniko K., Ward, Jewell C., Talati, Ajay, Brown, Chester W., Belmont, John W., Ortega, Julia L., Robinson, Keisha D., Brocklehurst, W. Tyler, Perry, Denise L., Ajay, Subramanian S., Hagelstrom, R. Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J.
Publicado 2021