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.
Areas of Clinical Interest
Inherited lung diseases of infancy, surfactant protein-B deficiency, newborn immunity, newborn infections, complement biosynthesis
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A Longitudinal Comparison of Alternatives to Body Mass Index Z-Scores for Children with Very High Body Mass Indexes
Freedman, D. S., Davies, A. J. G., Kompaniyets, L., Lange, S. J., Goodman, A. B., Phan, T. L. T., Cole, F. S., Dempsey, A., Pajor, N., Eneli, I., Christakis, D. A. & Forrest, C. B., Aug 2021, In: Journal of Pediatrics. 235, p. 156-162 7 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Undiagnosed Diseases Network, Apr 2021, In: Genetics in Medicine. 23, 4, p. 740-750 11 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2315-2324 10 p.Research output: Contribution to journal › Article › peer-review
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A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
Reynolds, M., Linneman, L. A., Luna, S., Warner, B. B., Turmelle, Y., Kulkarni, S. S., Jiang, X., Khanna, G., Shinawi, M., Porter, F. D., Ory, D., Cole, F. S. & Dickson, P. I., Sep 2021, In: Molecular Genetics and Metabolism Reports. 28, 100772.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Rosano, K. K., Wegner, D. J., Shinawi, M., Baldridge, D., Bucelli, R. C., Dahiya, S., White, F. V., Willing, M. C., McAllister, W., Taft, R. J., Bluske, K., Buchanan, A., Cole, F. S. & Wambach, J. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2190-2197 8 p.Research output: Contribution to journal › Article › peer-review