Luca Brunelli, MD, PhD

Associate Professor

  • 526 Citations
  • 10 h-Index
19952019
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Fingerprint Dive into the research topics where Luca Brunelli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Cardiomyopathies Medicine & Life Sciences
Cardiac Myocytes Medicine & Life Sciences
CCAAT-Enhancer-Binding Proteins Medicine & Life Sciences
Bacterial Artificial Chromosomes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Myocardium Medicine & Life Sciences
Genes Medicine & Life Sciences
Detergents Medicine & Life Sciences

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Research Output 1995 2019

  • 526 Citations
  • 10 h-Index
  • 20 Article
  • 2 Letter
  • 1 Review article
1 Citation (Scopus)

Many newborns in level IV NICUs are eligible for rapid DNA sequencing

Kapil, S., Fishler, K. P., Euteneuer, J. C. & Brunelli, L., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 280-284 5 p.

Research output: Contribution to journalLetter

DNA Sequence Analysis

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 1 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

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
3 Citations (Scopus)

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine

Brunelli, L., Mao, R., Jenkins, S. M., Bleyl, S. B., Dames, S. A., Miller, C. E., Ostrander, B., Tvrdik, T., Andrews, S., Flores, J., Patel, S., Gudgeon, J. M. & Schaefer, S., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1979-1982 4 p.

Research output: Contribution to journalLetter

Direct isolation of seamless mutant bacterial artificial chromosomes

Lezin, 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