Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants

Por Shen, Carol L., Zhang, Qunyuan, Meyer, Julia, Cole, F. Sessions, Wambach, Jennifer A.
Publicado no J Pediatr (2016)

Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation

Por Wambach, Jennifer A, Marshall, Bess A, Koster, Joseph C, White, Neil H, Nichols, Colin G
Publicado em 2009

Surfactant Protein-C Promoter Variants Associated with Neonatal Respiratory Distress Syndrome Reduce Transcription

Por Wambach, Jennifer A., Yang, Ping, Wegner, Daniel J., An, Ping, Hackett, Brian P., Cole, F. S., Hamvas, Aaron
Publicado em 2010

Respiratory Failure in a Term Infant with Cis and Trans Mutations in ABCA3

Por Jackson, Tara, Wegner, Daniel J., White, Frances V., Hamvas, Aaron, Cole, F. Sessions, Wambach, Jennifer A.
Publicado no J Perinatol (2015)

Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health–NHLBI Workshop, September 3 and 4, 2015

Por Young, Lisa R., Trapnell, Bruce C., Mandl, Kenneth D., Swarr, Daniel T., Wambach, Jennifer A., Blaisdell, Carol J.
Publicado no Ann Am Thorac Soc (2016)

Synonymous ABCA3 Variants Do Not Increase Risk for Neonatal Respiratory Distress Syndrome

Por Wambach, Jennifer A., Wegner, Daniel J., Heins, Hillary B., Druley, Todd E., Mitra, Robi D., Hamvas, Aaron, Cole, F. Sessions
Publicado em 2014

Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

Por Wambach, Jennifer A., Casey, Alicia M., Fishman, Martha P., Wegner, Daniel J., Wert, Susan E., Cole, F. Sessions, Hamvas, Aaron, Nogee, Lawrence M.
Publicado no Am J Respir Crit Care Med (2014)

Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3)

Por Yarbrough, Chester K, Bandt, S. Kathleen, Hurth, Kyle, Wambach, Jennifer A, Rao, Rakesh, Kulkarni, Shashikant, White, Francis V, Frater, John L, Leonard, Jeffrey R
Publicado no Cureus (2015)

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Por Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Wambach, Jennifer A., Towe, Chris T., White, Frances V., Grady, R. Mark, Eghtesady, Pirooz, Cole, F. Sessions, Deutsch, Gail, Sen, Partha, Stankiewicz, Pawel
Publicado em 2014

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

Por Wambach, Jennifer A., Wegner, Daniel J., DePass, Kelcey, Heins, Hillary, Druley, Todd E., Mitra, Robi D., An, Ping, Zhang, Qunyuan, Nogee, Lawrence M., Cole, F. Sessions, Hamvas, Aaron
Publicado em 2012

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome

Por 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
Publicado no Am J Respir Cell Mol Biol (2016)

Population and Disease-based Prevalence of the Common Mutations Associated with Surfactant Deficiency

Por Garmany, Tami H., Wambach, Jennifer A., Heins, Hillary B., Watkins-Torry, Julie M., Wegner, Daniel J., Bennet, Kate, An, Ping, Land, Garland, Saugstad, O. D., Henderson, Howard, Nogee, Lawrence M., Cole, F. Sessions, Hamvas, Aaron
Publicado em 2008

Recombination as a Mechanism for Sporadic Mutation in the Surfactant Protein-C Gene

Por McBee, Amy D., Wegner, Daniel J., Carlson, Christopher S., Wambach, Jennifer A., Yang, Ping, Heins, Hillary B., Saugstad, Ola D., Trusgnich, Michelle A., Watkins-Torry, Julie, Nogee, Lawrence M., Henderson, Howard, Cole, F. Sessions, Hamvas, Aaron
Publicado em 2008

Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Por Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Publicado em 2013