Fetal Tracheal Occlusion for Congenital Diaphragmatic Hernia von Cole, F. Sessions

Volltext

Improving VLBW infant outcomes with big data analytics von Cole, F. Sessions

Volltext

Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency von WAMBACH, Jennifer A, CASEY, Alicia M, FISHMAN, Martha P, WEGNER, Daniel J, WERT, Susan E, COLE, F. Sessions, HAMVAS, Aaron, NOGEE, Lawrence M

Volltext

Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants von 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.

Volltext

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency von Xu, Kathryn K., Wegner, Daniel J., Geurts, Lucille C., Heins, Hillary B., Yang, Ping, Hamvas, Aaron, Eghtesady, Pirooz, Sweet, Stuart C., Sessions Cole, F., Wambach, Jennifer A.

Volltext

NIH Consensus Development Conference Statement: Inhaled Nitric-Oxide Therapy for Premature Infants von SESSIONS COLE, F, ALLEYNE, Claudia, KRAMER, Michael, MITCHELL, Christine, NEU, Josef, PURSLEY, Dewayne M, ROBINSON, Walter M, ROWITCH, David H, BARKS, John D. E, BOYLE, Robert J, CARROLL, John L, DOKKEN, Deborah, EDWARDS, William H, GEORGIEFF, Michael, GREGORY, Katherine, JOHNSTON, Michael V

Volltext

Racial disparity in the frequency of recurrence of preterm birth von Kistka, Zachary A.-F, Palomar, Lisanne, Lee, Kirstin A., MD, Boslaugh, Sarah E., PhD, Wangler, Michael F., MD, Cole, F. Sessions, MD, DeBaun, Michael R., MD, MPH, Muglia, Louis J., MD, PhD

Volltext

Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease von Alysandratos, Konstantinos-Dionysios, Russo, Scott J., Petcherski, Anton, Taddeo, Evan P., Acín-Pérez, Rebeca, Villacorta-Martin, Carlos, Jean, J.C., Mulugeta, Surafel, Rodriguez, Luis R., Blum, Benjamin C., Hekman, Ryan M., Hix, Olivia T., Minakin, Kasey, Vedaie, Marall, Kook, Seunghyi, Tilston-Lunel, Andrew M., Varelas, Xaralabos, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Young, Lisa R., Liesa, Marc, Emili, Andrew, Guttentag, Susan H., Shirihai, Orian S., Beers, Michael F., Kotton, Darrell N.

Volltext

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome von 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.

Volltext

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration von Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.

Volltext

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism von Eldridge, Whitney B., MD, Zhang, Qunyuan, PhD, Faro, Albert, MD, Sweet, Stuart C., PhD, MD, Eghtesady, Pirooz, MD, PhD, Hamvas, Aaron, MD, Cole, F. Sessions, MD, Wambach, Jennifer A., MD, MS

Volltext

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 ‐related RASopathy von Grange, Dorothy K., Wegner, Daniel J., Wambach, Jennifer A., Sisco, Kathleen A., Stone, Stephen I., Sheehan, Jonathan H., Ramsey, Keri M., Narayanan, Vinodh, Rauen, Katherine A., Cole, F. Sessions

Volltext

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

Volltext

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1 von Hamvas, Aaron, MD, Deterding, Robin R., MD, Wert, Susan E., PhD, White, Frances V., MD, Dishop, Megan K., MD, Alfano, Danielle N., MD, Halbower, Ann C., MD, Planer, Benjamin, MD, Stephan, Mark J., MD, Uchida, Derek A., MD, Williames, Lee D., MD, Rosenfeld, Jill A., MS, Lebel, Robert Roger, MD, Young, Lisa R., MD, Cole, F. Sessions, MD, Nogee, Lawrence M., MD

Volltext

Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC von Attarian, Stephanie J, Leibel, Sandra L, Yang, Ping, Alfano, Danielle N, Hackett, Brian P, Cole, F Sessions, Hamvas, Aaron

Volltext

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses von Granadillo, Jorge L., Wegner, Daniel J., Paul, Alexander J., Willing, Marcia, Sisco, Kathleen, Tedder, Matthew L., Sadikovic, Bekim, Wambach, Jennifer A., Baldridge, Dustin, Cole, Francis Sessions

Volltext

Changes in Medical Errors after Implementation of a Handoff Program von Starmer, Amy J, Spector, Nancy D, Srivastava, Rajendu, West, Daniel C, Rosenbluth, Glenn, Allen, April D, Noble, Elizabeth L, Tse, Lisa L, Dalal, Anuj K, Keohane, Carol A, Lipsitz, Stuart R, Rothschild, Jeffrey M, Wien, Matthew F, Yoon, Catherine S, Zigmont, Katherine R, Wilson, Karen M, O’Toole, Jennifer K, Solan, Lauren G, Aylor, Megan, Bismilla, Zia, Coffey, Maitreya, Mahant, Sanjay, Blankenburg, Rebecca L, Destino, Lauren A, Everhart, Jennifer L, Patel, Shilpa J, Bale, James F, Spackman, Jaime B, Stevenson, Adam T, Calaman, Sharon, Cole, F. Sessions, Balmer, Dorene F, Hepps, Jennifer H, Lopreiato, Joseph O, Yu, Clifton E, Sectish, Theodore C, Landrigan, Christopher P

Volltext

Measuring BMI change among children and adolescents von Freedman, David S., Goodwin Davies, Amy J., Phan, Thao‐Ly Tam, Cole, F. Sessions, Pajor, Nathan, Rao, Suchitra, Eneli, Ihuoma, Kompaniyets, Lyudmyla, Lange, Samantha J., Christakis, Dimitri A., Forrest, Christopher B.

Volltext

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures von 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

Volltext

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype von van Meel, Eline, Wegner, Daniel J, Cliften, Paul, Willing, Marcia C, White, Frances V, Kornfeld, Stuart, Cole, F Sessions

Volltext