Research output per year
Research output per year
Personal profile
Research interests
Genetic regulation of neonatal pulmonary surfactant deficiency has been suggested by studies of gender, genetic linkage, recurrent familial cases, targeted gene ablation in murine lineages, and by racial disparity in risk of neonatal respiratory distress syndrome. Successful fetal-neonatal pulmonary transition requires production of the pulmonary surfactant, a phospholipid-protein film that lines alveoli and maintains alveolar patency at end expiration. Our goal is to understand the genetic mechanisms that disrupt pulmonary surfactant metabolism and cause neonatal respiratory distress syndrome.
Clinical interests
Inherited lung diseases of infancy, surfactant protein-B deficiency, newborn immunity, newborn infections, complement biosynthesis
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Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study
Nunes-Moreno, M., Buchanan, C., Cole, F. S., Davis, S., Dempsey, A., Dowshen, N., Furniss, A., Kazak, A. E., Kerlek, A. J., Margolis, P., Pyle, L., Razzaghi, H., Reirden, D. H., Schwartz, B., Sequeira, G. M. & Nokoff, N. J., Feb 2022, In: Journal of Pediatrics. 241, p. 147-153.e1Research output: Contribution to journal › Article › peer-review
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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant
Undiagnosed Diagnosis Network, 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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First Steps toward Personalized Therapies for ABCA3 Deficiency
Wambach, J. A., Nogee, L. M. & Cole, F. S., Apr 2022, In: American Journal of Respiratory Cell and Molecular Biology. 66, 4, p. 349-350 2 p.Research output: Contribution to journal › Editorial
Open Access1 Scopus citations -
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Undiagnosed Diseases Network, Apr 2022, In: Journal of Genetic Counseling. 31, 2, p. 326-337 12 p.Research output: Contribution to journal › Article › peer-review
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
Undiagnosed Diseases Network, Jan 2022, In: Science Advances. 8, 3, eabl5613.Research output: Contribution to journal › Article › peer-review