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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Research Output
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Acute Kidney Injury and Bronchopulmonary Dysplasia in Premature Neonates Born Less than 32 Weeks' Gestation
Starr, M. C., Boohaker, L., Eldredge, L. C., Menon, S., Griffin, R., Mayock, D. E., Li, L., Askenazi, D., Hingorani, S., Ambalavanan, N., Selewski, D. T., Sarkar, S., Kent, A., Fletcher, J., Abitbol, C. L., Defreitas, M., Duara, S., Charlton, J. R., Swanson, J. R., Guillet, R. & 52 others, , Feb 1 2020, In: American journal of perinatology. 37, 3, p. 341-348 8 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Addressing medically underserved populations through maternal-fetal transport: a geographic analysis
Rosenbloom, J. I., Nelson, D. M., Saunders, S., Cole, F. S., Chandarlis, J., Macones, G. A. & Cahill, A. G., Sep 1 2020, In: Journal of Maternal-Fetal and Neonatal Medicine. 33, 17, p. 2913-2917 5 p.Research output: Contribution to journal › Article › peer-review
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Undiagnosed Diseases Network, 2020, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
Open Access -
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., Dec 3 2020, In: American journal of human genetics. 107, 6, p. 1062-1077 16 p.Research output: Contribution to journal › Article › peer-review
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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Undiagnosed Diseases Network, Aug 1 2020, In: Brain. 143, 8, p. 2437-2453 17 p.Research output: Contribution to journal › Article › peer-review