Luca Brunelli, MD, PhD

Associate Professor

  • 538 Citations
  • 10 h-Index
19952019
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Research Output 1995 2019

  • 538 Citations
  • 10 h-Index
  • 20 Article
  • 2 Letter
  • 1 Review article
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Article
2019

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

Brunelli, L., Jenkins, S. M., Gudgeon, J. M., Bleyl, S. B., Miller, C. E., Tvrdik, T., Dames, S. A., Ostrander, B., Daboub, J. A. F., Zielinski, B. A., Zinkhan, E. K., Underhill, H. R., Wilson, T., Bonkowsky, J. L., Yost, C. C., Botto, L. D., Jenkins, J., Pysher, T. J., Bayrak-Toydemir, P. & Mao, R., Jul 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00796.

Research output: Contribution to journalArticle

Open Access
Genes
Congenital Myasthenic Syndromes
Exome
Pediatric Intensive Care Units
Heterozygote
2018

Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia

Matsunami, N., Shanmugam, H., Baird, L., Stevens, J., Byrne, J. L., Barnhart, D. C., Rau, C., Feldkamp, M. L., Yoder, B. A., Leppert, M. F., Yost, H. J. & Brunelli, L., Apr 17 2018, In : Birth Defects Research. 110, 7, p. 610-617 8 p.

Research output: Contribution to journalArticle

Genes
Diaphragms
Mutation
Diaphragm
Frameshift Mutation
2017

Direct isolation of seamless mutant bacterial artificial chromosomes

Lyozin, G. T., Kosaka, Y., Bhattacharje, G., Yost, H. J. & Brunelli, L., Apr 1 2017, In : Current Protocols in Molecular Biology. 2017, p. 8.6.1-8.6.29

Research output: Contribution to journalArticle

Bacterial Artificial Chromosomes
Genetic Engineering
Genetic Recombination
Polymerase Chain Reaction
Mutation
13 Citations (Scopus)

Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah

Shanmugam, H., Brunelli, L., Botto, L. D., Krikov, S. & Feldkamp, M. L., Nov 1 2017, In : Birth Defects Research. 109, 18, p. 1451-1459 9 p.

Research output: Contribution to journalArticle

Epidemiology
Cohort Studies
Liver
Population
Stillbirth
2016
4 Citations (Scopus)

14-3-3epsilon controls multiple developmental processes in the mouse heart

Gittenberger-de Groot, A. C., Hoppenbrouwers, T., Miquerol, L., Kosaka, Y., Poelmann, R. E., Wisse, L. J., Yost, H. J., Jongbloed, M. R. M., Deruiter, M. C. & Brunelli, L., Nov 1 2016, In : Developmental Dynamics. 245, 11, p. 1107-1123 17 p.

Research output: Contribution to journalArticle

Ventricular Heart Septal Defects
Endocardial Cushions
Tricuspid Atresia
Branchial Region
Epithelial-Mesenchymal Transition
1 Citation (Scopus)

Micro-computed tomography for the quantitative 3-dimensional assessment of the compact myocardium in the mouse embryo

Merchant, S. S., Kosaka, Y., Yost, H. J., Hsu, E. W. & Brunelli, L., Jan 1 2016, In : Circulation Journal. 80, 8, p. 1795-1803 9 p.

Research output: Contribution to journalArticle

Myocardium
Embryonic Structures
Tomography
Atlases
Iodine
2014
4 Citations (Scopus)

Isolation of rare recombinants without using selectable markers for one-step seamless BACmutagenesis

Lyozin, G. T., Bressloff, P. C., Kumar, A., Kosaka, Y., Demarest, B. L., Yost, H. J., Kuehn, M. R. & Brunelli, L., Jan 1 2014, In : Nature Methods. 11, 9, p. 966-970 5 p.

Research output: Contribution to journalArticle

Bacterial Artificial Chromosomes
Chromosomes
Mutagenesis
Nodal Protein
P1 Bacteriophage Artificial Chromosomes
2013
12 Citations (Scopus)

14-3-3ε Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum

Chang, B., Gorbea, C., Lezin, G., Li, L., Shan, L., Sakai, N., Kogaki, S., Otomo, T., Okinaga, T., Hamaoka, A., Yu, X., Hata, Y., Nishida, N., Yost, H. J., Bowles, N. E., Brunelli, L. & Ichida, F., Feb 15 2013, In : Gene. 515, 1, p. 173-180 8 p.

Research output: Contribution to journalArticle

CCAAT-Enhancer-Binding Proteins
Corpus Callosum
Cardiomyopathies
Morphogenesis
Classical Lissencephalies and Subcortical Band Heterotopias
2012
22 Citations (Scopus)

14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle

Kosaka, Y., Cieslik, K. A., Li, L., Lezin, G., Maguire, C. T., Saijoh, Y., Toyo-oka, K., Gambello, M. J., Vatta, M., Wynshaw-Boris, A., Baldini, A., Yost, H. J. & Brunelli, L., Dec 1 2012, In : Molecular and cellular biology. 32, 24, p. 5089-5102 14 p.

Research output: Contribution to journalArticle

Cardiac Myocytes
Myocardium
Cell Cycle
Cyclins
Cardiomyopathies
19 Citations (Scopus)

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

Arrington, C. B., Bleyl, S. B., Matsunami, N., Bowles, N. E., Leppert, T. I., Demarest, B. L., Osborne, K., Yoder, B. A., Byrne, J. L., Schiffman, J. D., Null, D. M., Digeronimo, R., Rollins, M., Faix, R., Comstock, J., Camp, N. J., Leppert, M. F., Yost, H. J. & Brunelli, L., Dec 2012, In : American Journal of Medical Genetics, Part A. 158 A, 12, p. 3137-3147 11 p.

Research output: Contribution to journalArticle

Diaphragm
Congenital Diaphragmatic Hernias
Genetic Association Studies
Regulator Genes
Introns
19 Citations (Scopus)

Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction

Xi, Y., Ai, T., De Lange, E., Li, Z., Wu, G., Brunelli, L., Kyle, W. B., Turker, I., Cheng, J., Ackerman, M. J., Kimura, A., Weiss, J. N., Qu, Z., Kim, J. J., Faulkner, G. & Vatta, M., Oct 1 2012, In : Circulation: Arrhythmia and Electrophysiology. 5, 5, p. 1017-1026 10 p.

Research output: Contribution to journalArticle

Cardiac Myocytes
Mutation
LIM Domain Proteins
PDZ Domains
Kidney
2011
10 Citations (Scopus)

A one-step miniprep for the isolation of plasmid DNA and lambda phage particles

Lezin, G., Kosaka, Y., Yost, H. J., Kuehn, M. R. & Brunelli, L., Aug 19 2011, In : PloS one. 6, 8, e23457.

Research output: Contribution to journalArticle

Bacteriophage lambda
Bacteriophages
detergents
Detergents
bacteriophages
6 Citations (Scopus)

Hofmeister series salts enhance purification of plasmid DNA by non-ionic detergents

Lezin, G., Kuehn, M. R. & Brunelli, L., Aug 1 2011, In : Biotechnology and Bioengineering. 108, 8, p. 1872-1882 11 p.

Research output: Contribution to journalArticle

Detergents
Purification
Plasmids
DNA
Salts
2010
19 Citations (Scopus)

A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy

Li, Z., Ai, T., Samani, K., Xi, Y., Tzeng, H. P., Xie, M., Wu, S., Ge, S., Taylor, M. D., Dong, J. W., Cheng, J., Ackerman, M. J., Kimura, A., Sinagra, G., Brunelli, L., Faulkner, G. & Vatta, M., Dec 1 2010, In : Circulation: Arrhythmia and Electrophysiology. 3, 6, p. 646-656 11 p.

Research output: Contribution to journalArticle

Dilated Cardiomyopathy
Missense Mutation
Cardiomyopathies
Sudden Cardiac Death
Mutation
2009
7 Citations (Scopus)

Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: A unifying mechanism for force transmission defect

Vatta, M., Sinagra, G., Brunelli, L. & Faulkner, G., Feb 1 2009, In : Journal of Cardiovascular Medicine. 10, 2, p. 149-156 8 p.

Research output: Contribution to journalArticle

Dystrophin
Cardiomyopathies
Pediatrics
Dilated Cardiomyopathy
Sarcomeres
2007
39 Citations (Scopus)

Peroxisome proliferator-activated receptor-δ upregulates 14-3-3ε in human endothelial cells via CCAAT/enhancer binding protein-β

Brunelli, L., Cieslik, K. A., Alcorn, J. L., Vatta, M. & Baldini, A., Mar 1 2007, In : Circulation Research. 100, 5, p. e59-e71

Research output: Contribution to journalArticle

CCAAT-Enhancer-Binding Proteins
Peroxisome Proliferator-Activated Receptors
Up-Regulation
Endothelial Cells
4-(3-(2-propyl-3-hydroxy-4-acetyl)phenoxy)propyloxyphenoxy acetic acid
2006
7 Citations (Scopus)

Perfluorochemical liquids enhance delivery of superoxide dismutase to the lungs of juvenile rabbits

Brunelli, L., Hamilton, E., Davis, J. M., Koo, H. C., Joseph, A., Kazzaz, J. A., Wolfson, M. R. & Shaffer, T. H., Jul 1 2006, In : Pediatric Research. 60, 1, p. 65-70 6 p.

Research output: Contribution to journalArticle

Superoxide Dismutase
Rabbits
Lung
Acute Lung Injury
Proteins
2001
99 Citations (Scopus)

Modulation of catalase peroxidatic and catalatic activity by nitric oxide

Brunelli, L., Yermilov, V. & Beckman, J. S., Apr 1 2001, In : Free Radical Biology and Medicine. 30, 7, p. 709-714 6 p.

Research output: Contribution to journalArticle

Catalase
Nitric Oxide
Modulation
Hydrogen Peroxide
Superoxide Dismutase
1995
4 Citations (Scopus)

Activation of the intracellular glutathione system by oxydative stress during cardiopulmonary bypass and myocardial perfusion

Tao, S., Calza, G., Lerzo, F., Virgone, A., Camassa, N., Panizzon, G., Bertolini, A., Brunelli, L., Moretti, R., Grasso, P. & Ghiggeri, G., Jan 1995, In : Perfusion. 10, 1, p. 45-50 6 p.

Research output: Contribution to journalArticle

Cardiopulmonary Bypass
activation
Glutathione
Blood
Perfusion
245 Citations (Scopus)

The comparative toxicity of nitric oxide and peroxynitrite to escherichia coli

Brunelli, L., Crow, J. P. & Beckman, J. S., Jan 1995, In : Archives of Biochemistry and Biophysics. 316, 1, p. 327-334 8 p.

Research output: Contribution to journalArticle

Peroxynitrous Acid
Escherichia coli
Toxicity
Nitric Oxide
Pterins