Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center von Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.

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A protocol for cell therapy infusion in neonates von Baker, Elizabeth K., Wallace, Euan M., Davis, Peter G., Malhotra, Atul, Jacobs, Susan E., Hooper, Stuart B., Lim, Rebecca

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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders von Hu, Xiaolin, Baker, Elizabeth K, Johnson, Jodie, Balow, Stephanie, Pena, Loren D M, Conlin, Laura K, Guan, Qiaoning, Smolarek, Teresa A

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Bronchopulmonary dysplasia outcome estimator in current neonatal practice von Baker, Elizabeth K., Davis, Peter G.

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Apnoeic oxygenation during neonatal intubation von Baker, Elizabeth K, Davis, Peter G, Hodgson, Kate A

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Phenotypes and genotypes in a cohort of children with single-ventricle CHD von Baker, Elizabeth K, Shikany, Amy, Winlaw, David S, Weaver, K Nicole

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Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome von Baker, Elizabeth K., Brewer, Casey J., Ferreira, Leonardo, Schapiro, Mark, Tenney, Jeffrey, Wied, Heather M., Kline‐Fath, Beth M., Smolarek, Teresa A., Weaver, K. Nicole, Hopkin, Robert J.

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RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature von Baker, Elizabeth K., Han, Jingfen, Langley, William A., Reott, Michael A., Hallinan, Barbara E., Hopkin, Robert J., Zhang, Wenying

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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects von Baker, Elizabeth K., Solivio, Beulah, Pode‐Shakked, Ben, Cross, Laura Ann, Sullivan, Bonnie, Raas‐Rothschild, Annick, Chorin, Odelia, Barel, Ortal, Bar‐Yosef, Omer, Husami, Ammar, Hopkin, Robert J., Prada, Carlos E., Stottmann, Rolf W., Weaver, Kathryn Nicole

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A novel RYR1 variant in an infant with a unique fetal presentation of central core disease von Baker, Elizabeth K., Al Gharaibeh, Faris N., Bove, Kevin, Calvo‐Garcia, Maria A., Shillington, Amelle, VandenHeuvel, Katherine, Cortezzo, DonnaMaria E.

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Proceedings of the ISCT scientific signature series symposium, "Advances in cell and gene therapies for lung diseases and critical illnesses": International Society for Cell & Gene... von Ting, Anthony E, Baker, Elizabeth K, Champagne, Josee, Desai, Tushar J, Dos Santos, Claudia C, Heijink, Irene H, Itescu, Silviu, Le Blanc, Katarina, Matthay, Michael A, McAuley, Daniel F, McIntyre, Lauralynn, Mei, Shirley H J, Parekkadan, Biju, Rocco, Patricia R M, Sheridan, John, Thébaud, Bernard, Weiss, Daniel J

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A Genetic Analysis of Integrin Function: Glanzmann Thrombasthenia in vitro von Baker, Elizabeth K., Tozer, Eileen Collins, Pfaff, Martin, Shattil, Sanford J., Loftus, Joseph C., Ginsberg, Mark H.

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Absence of established sex differences in patients with schizophrenia on a two-dimensional object array task von Shipman, Seth L, Baker, Elizabeth K, Pearlson, Godfrey, Astur, Robert S

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Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF) von Macaraeg, Marci, Baker, Elizabeth, Handorf, Elizabeth, Matt, Michael, Baker, Elizabeth K, Brunner, Hermine, Grom, Alexei A, Henrickson, Michael, Huggins, Jennifer, Zhang, Wenying, Lee, Pui, Marsh, Rebecca, Schulert, Grant S

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Defective Intracellular Transport is the Molecular Basis of Rhodopsin- Dependent Dominant Retinal Degeneration von Colley, Nansi J., Cassill, J. Aaron, Baker, Elizabeth K., Zuker, Charles S.

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fMRI Hippocampal Activity During a VirtualRadial Arm Maze von Astur, Robert S., St. Germain, Sarah A., Baker, Elizabeth K., Calhoun, Vince, Pearlson, Godfrey D., Constable, R. Todd

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The cyclophilin homolog ninaA is required in the secretory pathway von Colley, Nansi Jo, Baker, Elizabeth K., Stamnes, Mark A., Zuker, Charles S.

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Proceedings of the ISCT scientific signature series symposium, “Advances in cell and gene therapies for lung diseases and critical illnesses” von Ting, Anthony E., Baker, Elizabeth K., Champagne, Josee, Desai, Tushar J., dos Santos, Claudia C., Heijink, Irene H., Itescu, Silviu, Le Blanc, Katarina, Matthay, Michael A., McAuley, Daniel F., McIntyre, Lauralynn, Mei, Shirley H.J., Parekkadan, Biju, Rocco, Patricia R.M., Sheridan, John, Thébaud, Bernard, Weiss, Daniel J.

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cyclophilin homolog NinaA functions as a chaperone, forming a stable complex in vivo with its protein target rhodopsin von Baker, E.K, Colley, N.J, Zuker, C.S

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Absence of established sex differences in patients with schizophrenia on a 2-dimensional object array task von Shipman, Seth L., Baker, Elizabeth K., Pearlson, Godfrey, Astur, Robert S.

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