Research output per year
Research output per year
- 1 - 50 out of 108 results
Search results
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2025
Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases
for the chILD Registry Collaborative, Apr 2025, In: Pediatric pulmonology. 60, 4, e71073.Research output: Contribution to journal › Article › peer-review
Open Access -
2024
Genetic testing for diffuse lung diseases in children
Hamvas, A., Chaudhari, B. P. & Nogee, L. M., Sep 2024, In: Pediatric pulmonology. 59, 9, p. 2286-2297 12 p.Research output: Contribution to journal › Article › peer-review
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Human inherited CCR2 deficiency underlies progressive polycystic lung disease
Neehus, A. L., Carey, B., Landekic, M., Panikulam, P., Deutsch, G., Ogishi, M., Arango-Franco, C. A., Philippot, Q., Modaresi, M., Mohammadzadeh, I., Corcini Berndt, M., Rinchai, D., Le Voyer, T., Rosain, J., Momenilandi, M., Martin-Fernandez, M., Khan, T., Bohlen, J., Han, J. E. & Deslys, A. & 52 others, , Jan 18 2024, In: Cell. 187, 2, p. 390-408.e23Research output: Contribution to journal › Article › peer-review
Open Access -
The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort
for the chILD Registry Collaborative, Sep 2024, In: Pediatric pulmonology. 59, 9, p. 2236-2246 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Accurate assignment of disease liability to genetic variants using only population data
Collaco, J. M., Raraigh, K. S., Betz, J., Aksit, M. A., Blau, N., Brown, J., Dietz, H. C., MacCarrick, G., Nogee, L. M., Sheridan, M. B., Vernon, H. J., Beaty, T. H., Louis, T. & Cutting, G. R., Jan 2022, In: Genetics in Medicine. 24, 1, p. 87-99 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
NIHR Bioresource – Rare Diseases, Sep 2022, In: Journal of medical genetics. 59, 9, p. 906-911 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F)
Park, H., Bidiwala, A., Conrad, L. A., Aborawi, N., Ewart, M., Josephson, M., Nogee, L. M. & Arens, R., Feb 2022, In: Lung. 200, 1, p. 67-71 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2021
Community-Onset Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Young Infants: A Systematic Review
Mark, E. G., Golden, W. C., Gilmore, M. M., Sick-Samuels, A., Curless, M. S., Nogee, L. M., Milstone, A. M. & Johnson, J., Jan 2021, In: Journal of Pediatrics. 228, p. 94-100.e3Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Genetic testing for neonatal respiratory disease
Nogee, L. M. & Ryan, R. M., Mar 2021, In: Children. 8, 3, 216.Research output: Contribution to journal › Article › peer-review
Open Access -
2020
A lung tropic AAV vector improves survival in a mouse model of surfactant B deficiency
Kang, M. H., van Lieshout, L. P., Xu, L., Domm, J. M., Vadivel, A., Renesme, L., Mühlfeld, C., Hurskainen, M., Mižíková, I., Pei, Y., van Vloten, J. P., Thomas, S. P., Milazzo, C., Cyr-Depauw, C., Whitsett, J. A., Nogee, L. M., Wootton, S. K. & Thébaud, B., Dec 1 2020, In: Nature communications. 11, 1, 3929.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter
Oltvai, Z. N., Smith, E. A., Wiens, K., Nogee, L. M., Luquette, M., Nelson, A. C. & Wikenheiser-Brokamp, K. A., Feb 2020, In: Cold Spring Harbor Molecular Case Studies. 6, 3, a005074.Research output: Contribution to journal › Article › peer-review
Open Access -
Single-Center Outcome of Fetoscopic Tracheal Balloon Occlusion for Severe Congenital Diaphragmatic Hernia
Baschat, A. A., Rosner, M., Millard, S. E., Murphy, J. D., Blakemore, K. J., Keiser, A. M., Kearney, J., Bullard, J., Nogee, L. M., Bembea, M., Jelin, E. B. & Miller, J. L., Mar 1 2020, In: Obstetrics and gynecology. 135, 3, p. 511-521 11 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function
Beck, M. E., Zhang, Y., Bharathi, S. S., Kosmider, B., Bahmed, K., Dahmer, M. K., Nogee, L. M. & Goetzman, E. S., Sep 1 2020, In: Molecular genetics and metabolism. 131, 1-2, p. 83-89 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
2018
Current status and future opportunities in lung precision medicine research with a focus on biomarkers: An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement
Wu, A. C., Kiley, J. P., Noel, P. J., Amur, S., Burchard, E. G., Clancy, J. P., Galanter, J., Inada, M., Jones, T. K., Kropski, J. A., Loyd, J. E., Nogee, L. M., Raby, B. A., Rogers, A. J., Schwartz, D. A., Sin, D. D., Spira, A., Weiss, S. T., Young, L. R. & Himes, B. E., Dec 15 2018, In: American journal of respiratory and critical care medicine. 198, 12, p. E116-E136Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline
Shapiro, A. J., Davis, S. D., Polineni, D., Manion, M., Rosenfeld, M., Dell, S. D., Chilvers, M. A., Ferkol, T. W., Zariwala, M. A., Sagel, S. D., Josephson, M., Morgan, L., Yilmaz, O., Olivier, K. N., Milla, C., Pittman, J. E., Leigh Anne Daniels, M., Jones, M. H., Janahi, I. A. & Ware, S. M. & 10 others, , Jun 15 2018, In: American journal of respiratory and critical care medicine. 197, 12, p. e24-e39Research output: Contribution to journal › Article › peer-review
100 Scopus citations -
Ethical considerations concerning amnioinfusions for treating fetal bilateral renal agenesis
Sugarman, J., Anderson, J., Baschat, A. A., Herrera Beutler, J., Bienstock, J. L., Bunchman, T. E., Desai, N., Gates, E., Goldberg, A., Grimm, P. C., Henry, L. M., Jelin, E., Johnson, E., Hertenstein, C. B., Mastroianni, A. C., Mercurio, M. R., Neu, A., Nogee, L. M., Polzin, W. J. & Ralston, S. J. & 5 others, , Jan 1 2018, In: Obstetrics and gynecology. 131, 1, p. 130-134 5 p.Research output: Contribution to journal › Article › peer-review
11 Scopus citations -
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease
Uusimaa, J., Kaarteenaho, R., Paakkola, T., Tuominen, H., Karjalainen, M. K., Nadaf, J., Varilo, T., Uusi-Mäkelä, M., Suo-Palosaari, M., Pietilä, I., Hiltunen, A. E., Ruddock, L., Alanen, H., Biterova, E., Miinalainen, I., Salminen, A., Soininen, R., Manninen, A., Sormunen, R. & Kaakinen, M. & 12 others, , May 1 2018, In: Acta neuropathologica. 135, 5, p. 727-742 16 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
2017
A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy
Litao, M. K. S., Hayes, D., Chiwane, S., Nogee, L. M., Kurland, G. & Guglani, L., Jan 1 2017, In: Pediatric pulmonology. 52, 1, p. 57-68 12 p.Research output: Contribution to journal › Article › peer-review
18 Scopus citations -
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: A decade's experience
Saddi, V., Beggs, S., Bennetts, B., Harrison, J., Hime, N., Kapur, N., Lipsett, J., Nogee, L. M., Phu, A., Suresh, S., Schultz, A., Selvadurai, H., Sherrard, S., Strachan, R., Vyas, J., Zurynski, Y. & Jaffé, A., Jul 25 2017, In: Orphanet journal of rare diseases. 12, 1, 133.Research output: Contribution to journal › Article › peer-review
Open Access14 Scopus citations -
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency
López-Andreu, J. A., Hidalgo-Santos, A. D., Fuentes-Castelló, M. A., Mancheño-Franch, N., Cerón-Pérez, J. A., Esteban-Ricós, M. J., Pedrola-Vidal, L. & Nogee, L. M., Nov 2017, In: Journal of Pediatrics. 190, p. 268-270.e1Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Premature Identical Twin Neonates with Sleep Apnea
Ramesh, A., Diaz, J., Nogee, L., Duis, J., Jang, D. S., Lawson, C. & Maegawa, G., Oct 1 2017, In: Clinical pediatrics. 56, 11, p. 1075-1078 4 p.Research output: Contribution to journal › Article › peer-review
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2016
Persistent lung disease in adults with NKX2.1 mutation and familial neuroendocrine cell hyperplasia of infancy
Nevel, R. J., Garnett, E. T., Worrell, J. A., Morton, R. L., Nogee, L. M., Blackwell, T. S. & Young, L. R., 2016, In: Annals of the American Thoracic Society. 13, 8, p. 1299-1304 6 p.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations -
2015
A disorder of surfactant metabolism without identified genetic mutations
Montella, S., Vece, T. J., Langston, C., Carrera, P., Nogee, L. M., Hamvas, A., Manna, A., Cervasio, M. & Santamaria, F., Nov 25 2015, In: Italian Journal of Pediatrics. 41, 1, 93.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
2014
Genotype-phenotype correlations for infants and children with ABCA3 deficiency
Wambach, J. A., Casey, A. M., Fishman, M. P., Wegner, D. J., Wert, S. E., Sessions Cole, F., Hamvas, A. & Nogee, L. M., Jun 15 2014, In: American journal of respiratory and critical care medicine. 189, 12, p. 1538-1543 6 p.Research output: Contribution to journal › Article › peer-review
Open Access84 Scopus citations -
Natural history of five children with surfactant protein C mutations and interstitial lung disease
Avital, A., Hevroni, A., Godfrey, S., Cohen, S., Maayan, C., Nusair, S., Nogee, L. M. & Springer, C., Nov 1 2014, In: Pediatric pulmonology. 49, 11, p. 1097-1105 9 p.Research output: Contribution to journal › Article › peer-review
41 Scopus citations -
2013
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy
Young, L. R., Deutsch, G. H., Bokulic, R. E., Brody, A. S. & Nogee, L. M., Oct 2013, In: CHEST. 144, 4, p. 1199-1206 8 p.Research output: Contribution to journal › Article › peer-review
Open Access48 Scopus citations -
An official american thoracic society clinical practice guideline: Classification, evaluation, and management of childhood interstitial lung disease in infancy
Kurland, G., Deterding, R. R., Hagood, J. S., Young, L. R., Brody, A. S., Castile, R. G., Dell, S., Fan, L. L., Hamvas, A., Hilman, B. C., Langston, C., Nogee, L. M. & Redding, G. J., Aug 1 2013, In: American journal of respiratory and critical care medicine. 188, 3, p. 376-394 19 p.Research output: Contribution to journal › Article › peer-review
210 Scopus citations -
Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease
Gower, W. A. & Nogee, L. M., Dec 2013, In: Journal of Pediatrics. 163, 6, p. 1778-1780 3 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1
Hamvas, A., Deterding, R. R., Wert, S. E., White, F. V., Dishop, M. K., Alfano, D. N., Halbower, A. C., Planer, B., Stephan, M. J., Uchida, D. A., Williames, L. D., Rosenfeld, J. A., Lebel, R. R., Young, L. R., Cole, F. S. & Nogee, L. M., Sep 2013, In: CHEST. 144, 3, p. 794-804 11 p.Research output: Contribution to journal › Article › peer-review
Open Access93 Scopus citations -
Large ABCA3 and SFTPC deletions resulting in lung disease
Henderson, L. B., Melton, K., Wert, S., Couriel, J., Bush, A., Ashworth, M. & Nogee, L. M., Dec 2013, In: Annals of the American Thoracic Society. 10, 6, p. 602-607 6 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
Variable clinical outcome of ABCA3 deficiency in two siblings
Thavagnanam, S., Cutz, E., Manson, D., Nogee, L. M. & Dell, S. D., Oct 2013, In: Pediatric pulmonology. 48, 10, p. 1035-1038 4 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
2012
An intronic ABCA3 mutation that is responsible for respiratory disease
Agrawal, A., Hamvas, A., Cole, F. S., Wambach, J. A., Wegner, D., Coghill, C., Harrison, K. & Nogee, L. M., Jun 2012, In: Pediatric research. 71, 6, p. 633-637 5 p.Research output: Contribution to journal › Article › peer-review
Open Access33 Scopus citations -
Frontiers in pulmonary hypertension in infants and children with bronchopulmonary dysplasia
Collaco, J. M., Romer, L. H., Stuart, B. D., Coulson, J. D., Everett, A. D., Lawson, E. E., Brenner, J. I., Brown, A. T., Nies, M. K., Sekar, P., Nogee, L. M. & McGrath-Morrow, S. A., Oct 2012, In: Pediatric pulmonology. 47, 11, p. 1042-1053 12 p.Research output: Contribution to journal › Article › peer-review
Open Access44 Scopus citations -
High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C
Willander, H., Askarieh, G., Landreh, M., Westermark, P., Nordling, K., Keränen, H., Hermansson, E., Hamvas, A., Noge, L. M., Bergman, T., Saenz, A., Casals, C., Åqvist, J., Jörnvall, H., Berglund, H., Presto, J., Knight, S. D. & Johansson, J., Feb 14 2012, In: Proceedings of the National Academy of Sciences of the United States of America. 109, 7, p. 2325-2329 5 p.Research output: Contribution to journal › Article › peer-review
71 Scopus citations -
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
Flamein, F., Riffault, L., Muselet-charlier, C., Pernelle, J., Feldmann, D., Jonard, L., Durand-schneider, A. M., Coulomb, A., Maurice, M., Nogee, L. M., Inagaki, N., Amselem, S., Dubus, J. C., Rigourd, V., Brémont, F., Marguet, C., Brouard, J., De blic, J., Clement, A. & Epaud, R. & 1 others, , Feb 2012, In: Human molecular genetics. 21, 4, p. 765-775 11 p., ddr508.Research output: Contribution to journal › Article › peer-review
Open Access56 Scopus citations -
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome
Wambach, J. A., Wegner, D. J., DePass, K., Heins, H., Druley, T. E., Mitra, R. D., An, P., Zhang, Q., Nogee, L. M., Cole, F. S. & Hamvas, A., Dec 2012, In: Pediatrics. 130, 6, p. e1575-e1582Research output: Contribution to journal › Article › peer-review
58 Scopus citations -
2011
Etiology of bronchopulmonary dysplasia: Before birth
Zeitlin, P. L. & Nogee, L. M., Mar 1 2011, In: Pediatric, Allergy, Immunology, and Pulmonology. 24, 1, p. 21-25 5 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations
Uchida, D. A., Wert, S. E., Nogee, L. M., Carroll, T. R. & Chatfield, B. A., May 2011, In: Pediatrics. 127, 5, p. e1347-e1351Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
2010
Familial neuroendocrine cell hyperplasia of infancy
Popler, J., Gower, W. A., Mogayzel, P. J., Nogee, L. M., Langston, C., Wilson, A. C., Hay, T. C. & Deterding, R. R., Aug 2010, In: Pediatric pulmonology. 45, 8, p. 749-755 7 p.Research output: Contribution to journal › Article › peer-review
53 Scopus citations -
Fatal Familial Lung Disease Caused by ABCA3 Deficiency without Identified ABCA3 Mutations
Gower, W. A., Wert, S. E., Ginsberg, J. S., Golan, A., Whitsett, J. A. & Nogee, L. M., Jul 2010, In: Journal of Pediatrics. 157, 1, p. 62-68 7 p.Research output: Contribution to journal › Article › peer-review
23 Scopus citations -
Hereditary pulmonary alveolar proteinosis: Pathogenesis, presentation, diagnosis, and therapy
Suzuki, T., Sakagami, T., Young, L. R., Carey, B. C., Wood, R. E., Luisetti, M., Wert, S. E., Rubin, B. K., Kevill, K., Chalk, C., Whitsett, J. A., Stevens, C., Nogee, L. M., Campo, I. & Trapnell, B. C., Nov 15 2010, In: American journal of respiratory and critical care medicine. 182, 10, p. 1292-1304 13 p.Research output: Contribution to journal › Article › peer-review
Open Access102 Scopus citations -
Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene
Poterjoy, B. S., Vibert, Y., Sola-Visner, M., McGowan, J., Visner, G. & Nogee, L. M., Feb 2010, In: Journal of Perinatology. 30, 2, p. 151-153 3 p.Research output: Contribution to journal › Article › peer-review
15 Scopus citations -
2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes
Hamvas, A., Nogee, L. M., Wegner, D. J., DePass, K., Christodoulou, J., Bennetts, B., McQuade, L. R., Gray, P. H., Deterding, R. R., Carroll, T. R., Kammesheidt, A., Kasch, L. M., Kulkarni, S. & Cole, F. S., Dec 2009, In: Journal of Pediatrics. 155, 6, p. 854-859.e1Research output: Contribution to journal › Article › peer-review
26 Scopus citations -
2008
Clinical, radiological and pathological features of ABCA3 mutations in children
Doan, M. L., Guillerman, R. P., Dishop, M. K., Nogee, L. M., Langston, C., Mallory, G. B., Sockrider, M. M. & Fan, L. L., Apr 2008, In: Thorax. 63, 4, p. 366-373 8 p.Research output: Contribution to journal › Article › peer-review
Open Access146 Scopus citations -
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
Suzuki, T., Sakagami, T., Rubin, B. K., Nogee, L. M., Wood, R. E., Zimmerman, S. L., Smolarek, T., Dishop, M. K., Wert, S. E., Whitsett, J. A., Grabowski, G., Carey, B. C., Stevens, C., Van Der Loo, J. C. M. & Trapnell, B. C., Nov 12 2008, In: Journal of Experimental Medicine. 205, 12, p. 2703-2710 8 p.Research output: Contribution to journal › Article › peer-review
Open Access189 Scopus citations -
Inherited surfactant disorders
Gower, W. A., Wert, S. E. & Nogee, L. M., 2008, In: NeoReviews. 9, 10, p. e458-e467Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Population and disease-based prevalence of the common mutations associated with surfactant deficiency
Garmany, T. H., Wambach, J. A., Heins, H. B., Watkins-Torry, J. M., Wegner, D. J., Bennet, K., An, P., Land, G., Saugstad, O. D., Henderson, H., Nogee, L. M., Cole, F. S. & Hamvas, A., Jun 2008, In: Pediatric research. 63, 6, p. 645-649 5 p.Research output: Contribution to journal › Article › peer-review
Open Access66 Scopus citations -
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
McBee, A. D., Wegner, D. J., Carlson, C. S., Wambach, J. A., Yang, P., Heins, H. B., Saugstad, O. D., Trusgnich, M. A., Watkins-Torry, J., Nogee, L. M., Henderson, H., Cole, F. S. & Hamvas, A., May 2008, In: Pediatric pulmonology. 43, 5, p. 443-450 8 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
Usual interstitial pneumonia in an adolescent with ABCA3 mutations
Young, L. R., Nogee, L. M., Barnett, B., Panos, R. J., Colby, T. V. & Deutsch, G. H., Jul 2008, In: CHEST. 134, 1, p. 192-195 4 p.Research output: Contribution to journal › Article › peer-review
80 Scopus citations -
2007
ABCA3 Deficiency Presenting as Persistent Pulmonary Hypertension of the Newborn
Kunig, A. M., Parker, T. A., Nogee, L. M., Abman, S. H. & Kinsella, J. P., Sep 2007, In: Journal of Pediatrics. 151, 3, p. 322-324 3 p.Research output: Contribution to journal › Article › peer-review
34 Scopus citations