Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1
Hamvas, Aaron, Deterding, Robin R, Wert, Susan E, White, Frances V, Dishop, Megan K, Alfano, Danielle N, Halbower, Ann C, Planer, Benjamin, Stephan, Mark J, Uchida, Derek A, Williames, Lee D, Rosenfeld, Jill A, Lebel, Robert Roger, Young, Lisa R, Cole, F Sessions, Nogee, Lawrence M
Published in Chest (01.09.2013)
Published in Chest (01.09.2013)
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Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome
Baldridge, Dustin, Spillmann, Rebecca C., Wegner, Daniel J., Wambach, Jennifer A., White, Frances V., Sisco, Kathleen, Toler, Tomi L., Dickson, Patricia I., Cole, F. Sessions, Shashi, Vandana, Grange, Dorothy K.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
van Meel, Eline, Wegner, Daniel J, Cliften, Paul, Willing, Marcia C, White, Frances V, Kornfeld, Stuart, Cole, F Sessions
Published in BMC medical genetics (08.10.2013)
Published in BMC medical genetics (08.10.2013)
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Journal Article
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins
Luke, Cliff J, Markovina, Stephanie, Good, Misty, Wight, Ira E, Thomas, Brian J, Linneman, John M, Lanik, Wyatt E, Koroleva, Olga, Coffman, Maggie R, Miedel, Mark T, Gong, Qingqing, Andress, Arlise, Campos Guerrero, Marlene, Wang, Songyan, Chen, LiYun, Beatty, Wandy L, Hausmann, Kelsey N, White, Frances V, Fitzpatrick, James A J, Orvedahl, Anthony, Pak, Stephen C, Silverman, Gary A
Published in Communications biology (12.01.2022)
Published in Communications biology (12.01.2022)
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Journal Article
Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women
Toib, Amir, MD, Grange, Dorothy K., MD, Kozel, Beth A., MD, PhD, Ewald, Gregory A., MD, White, Frances V., MD, Canter, Charles E., MD
Published in Journal of the American College of Cardiology (26.01.2010)
Published in Journal of the American College of Cardiology (26.01.2010)
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Journal Article
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells
Jacob, Anjali, Morley, Michael, Hawkins, Finn, McCauley, Katherine B., Jean, J.C., Heins, Hillary, Na, Cheng-Lun, Weaver, Timothy E., Vedaie, Marall, Hurley, Killian, Hinds, Anne, Russo, Scott J., Kook, Seunghyi, Zacharias, William, Ochs, Matthias, Traber, Katrina, Quinton, Lee J., Crane, Ana, Davis, Brian R., White, Frances V., Wambach, Jennifer, Whitsett, Jeffrey A., Cole, F. Sessions, Morrisey, Edward E., Guttentag, Susan H., Beers, Michael F., Kotton, Darrell N.
Published in Cell stem cell (05.10.2017)
Published in Cell stem cell (05.10.2017)
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Journal Article
Hepatic fibrosis and survival in biliary atresia
Weerasooriya, Viraine S., White, Frances V., Shepherd, Ross W.
Published in The Journal of pediatrics (01.01.2004)
Published in The Journal of pediatrics (01.01.2004)
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Journal Article
Outcome after Portoenterostomy in Biliary Atresia: Pivotal Role of Degree of Liver Fibrosis and Intensity of Stellate Cell Activation
Shteyer, Eyal, Ramm, Grant A, Xu, Chunxia, White, Frances V, Shepherd, Ross W
Published in Journal of pediatric gastroenterology and nutrition (01.01.2006)
Published in Journal of pediatric gastroenterology and nutrition (01.01.2006)
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Journal Article
Functional Genomics of ABCA3 Variants
Wambach, Jennifer A, Yang, Ping, Wegner, Daniel J, Heins, Hillary B, Luke, Cliff, Li, Fuhai, White, Frances V, Cole, F Sessions
Published in American journal of respiratory cell and molecular biology (01.10.2020)
Published in American journal of respiratory cell and molecular biology (01.10.2020)
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Journal Article
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation
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.
Published in The Journal of pediatrics (01.03.2018)
Published in The Journal of pediatrics (01.03.2018)
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Journal Article
Key Histopathologic Features of Liver Biopsies That Distinguish Biliary Atresia From Other Causes of Infantile Cholestasis and Their Correlation With Outcome: A Multicenter Study
Russo, Pierre, Magee, John C, Anders, Robert A, Bove, Kevin E, Chung, Catherine, Cummings, Oscar W, Finegold, Milton J, Finn, Laura S, Kim, Grace E, Lovell, Mark A, Magid, Margret S, Melin-Aldana, Hector, Ranganathan, Sarangarajan, Shehata, Bahig M, Wang, Larry L, White, Frances V, Chen, Zhen, Spino, Catherine
Published in The American journal of surgical pathology (01.12.2016)
Published in The American journal of surgical pathology (01.12.2016)
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Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
Viehl, Luke, Wegner, Daniel J., Hmiel, Stanley P., White, Frances V., Jain, Sanjay, Cole, F. S., Wambach, Jennifer A.
Published in Pediatric nephrology (Berlin, West) (01.02.2023)
Published in Pediatric nephrology (Berlin, West) (01.02.2023)
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Journal Article
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure
Wambach, Jennifer A, Wegner, Daniel J, Kitzmiller, Joseph, White, Frances V, Heins, Hillary B, Yang, Ping, Paul, Alexander J, Granadillo, Jorge L, Eghtesady, Pirooz, Kuklinski, Cadence, Turner, Tiffany, Fairman, Korre, Stone, Kristyne, Wilson, Theodore, Breman, Amy, Smith, Janice, Schroeder, Molly C, Neidich, Julie A, Whitsett, Jeffrey A, Cole, F Sessions
Published in American journal of respiratory cell and molecular biology (01.01.2024)
Published in American journal of respiratory cell and molecular biology (01.01.2024)
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Journal Article
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome
Wambach, Jennifer A, Yang, Ping, Wegner, Daniel J, Heins, Hillary B, Kaliberova, Lyudmila N, Kaliberov, Sergey A, Curiel, David T, White, Frances V, Hamvas, Aaron, Hackett, Brian P, Cole, F Sessions
Published in American journal of respiratory cell and molecular biology (01.11.2016)
Published in American journal of respiratory cell and molecular biology (01.11.2016)
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Journal Article
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling
Tomer, Yaniv, Wambach, Jennifer, Knudsen, Lars, Zhao, Ming, Rodriguez, Luis R, Murthy, Aditi, White, Frances V, Venosa, Alessandro, Katzen, Jeremy, Ochs, Matthias, Hamvas, Aaron, Beers, Michael F, Mulugeta, Surafel
Published in American journal of physiology. Lung cellular and molecular physiology (01.08.2021)
Published in American journal of physiology. Lung cellular and molecular physiology (01.08.2021)
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Journal Article
The common ABCA3 E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling
Tomer, Yaniv, Wambach, Jennifer, Knudsen, Lars, Zhao, Ming, Rodriguez, Luis R, Murthy, Aditi, White, Frances V, Venosa, Alessandro, Katzen, Jeremy, Ochs, Matthias, Hamvas, Aaron, Beers, Michael F, Mulugeta, Surafel
Published in American journal of physiology. Lung cellular and molecular physiology (01.08.2021)
Published in American journal of physiology. Lung cellular and molecular physiology (01.08.2021)
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Journal Article
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants
Hu, June Y., Yang, Ping, Wegner, Daniel J., Heins, Hillary B., Luke, Cliff J., Li, Fuhai, White, Frances V., Silverman, Gary A., Sessions Cole, F., Wambach, Jennifer A.
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme
Fan, Leland L, Dishop, Megan K, Galambos, Csaba, Askin, Frederic B, White, Frances V, Langston, Claire, Liptzin, Deborah R, Kroehl, Miranda E, Deutsch, Gail H, Young, Lisa R, Kurland, Geoffrey, Hagood, James, Dell, Sharon, Trapnell, Bruce C, Deterding, Robin R
Published in Annals of the American Thoracic Society (01.10.2015)
Published in Annals of the American Thoracic Society (01.10.2015)
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Diffuse Lung Disease in Young Children: Application of a Novel Classification Scheme
Deutsch, Gail H, Young, Lisa R, Deterding, Robin R, Fan, Leland L, Dell, Sharon D, Bean, Judy A, Brody, Alan S, Nogee, Lawrence M, Trapnell, Bruce C, Langston, Claire, and Pathology Cooperative Group, Albright, Eric A, Askin, Frederic B, Baker, Peter, Chou, Pauline M, Cool, Carlyne M, Coventry, Susan C, Cutz, Ernest, Davis, Mary M, Dishop, Megan K, Galambos, Csaba, Patterson, Kathleen, Travis, William D, Wert, Susan E, White, Frances V, on behalf of ChILD Research Co-operative
Published in American journal of respiratory and critical care medicine (01.12.2007)
Published in American journal of respiratory and critical care medicine (01.12.2007)
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