Vidal-Folch N - Search Results

1

Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.

Lopes J, Vidal-Folch N, Lundquist P, Schimmenti LA, Demirel N, Dean V, Olson J, Auth T, Butz M, Reed K, Wylam M, Balcom J, Boczek NJ, Hasadsri L. Lopes J, et al. Among authors: vidal folch n. Pediatr Pulmonol. 2023 Mar;58(3):819-824. doi: 10.1002/ppul.26259. Epub 2022 Dec 20. Pediatr Pulmonol. 2023. PMID: 36437230

2

Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.

Milosevic D, Lundquist P, Cradic K, Vidal-Folch N, Huynh T, Pacak K, Grebe SK. Milosevic D, et al. Clin Biochem. 2010 May;43(7-8):700-4. doi: 10.1016/j.clinbiochem.2010.01.016. Epub 2010 Feb 12. Clin Biochem. 2010. PMID: 20153743 Free PMC article.

3

Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing.

Lambert-Cheatham NA, Tessema ST, Subei O, Sakuru RC, Fullmer MD, Selner EM, Vidal-Folch N, Chang HT, Hasadsri L, Kaufman DI. Lambert-Cheatham NA, et al. Among authors: vidal folch n. J Neuroophthalmol. 2023 Dec 1;43(4):e260-e263. doi: 10.1097/WNO.0000000000001555. Epub 2022 Apr 27. J Neuroophthalmol. 2023. PMID: 35483062 No abstract available.

4

Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay.

Fernholz EC, Vidal-Folch N, Hasadsri L. Fernholz EC, et al. Among authors: vidal folch n. J Clin Microbiol. 2023 Mar 23;61(3):e0178122. doi: 10.1128/jcm.01781-22. Epub 2023 Feb 14. J Clin Microbiol. 2023. PMID: 36786642 Free PMC article. No abstract available.

5

Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.

Choate LA, Koleilat A, Harris K, Vidal-Folch N, Guenzel A, Newman J, Peterson BJ, Peterson SE, Rice CS, Train LJ, Hasadsri L, Marcou CA, Moyer AM, Baudhuin LM. Choate LA, et al. Among authors: vidal folch n. Clin Chem. 2023 Oct 3;69(10):1155-1162. doi: 10.1093/clinchem/hvad110. Clin Chem. 2023. PMID: 37566393

6

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. Vidal-Folch N, et al. J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011. J Mol Diagn. 2017. PMID: 28826609 Free article.

7

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D. Vidal-Folch N, et al. Clin Chem. 2018 Dec;64(12):1753-1761. doi: 10.1373/clinchem.2018.293712. Epub 2018 Oct 23. Clin Chem. 2018. PMID: 30352867

8

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Oliver GR, Tang X, Schultz-Rogers LE, Vidal-Folch N, Jenkinson WG, Schwab TL, Gaonkar K, Cousin MA, Nair A, Basu S, Chanana P, Oglesbee D, Klee EW. Oliver GR, et al. Among authors: vidal folch n. PLoS One. 2019 Oct 2;14(10):e0223337. doi: 10.1371/journal.pone.0223337. eCollection 2019. PLoS One. 2019. PMID: 31577830 Free PMC article.

9

Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing.

Milosevic D, Mills JR, Campion MB, Vidal-Folch N, Voss JS, Halling KC, Highsmith WE, Liu MC, Kipp BR, Grebe SKG. Milosevic D, et al. Among authors: vidal folch n. Clin Chem. 2018 Dec;64(12):1732-1742. doi: 10.1373/clinchem.2018.291278. Epub 2018 Sep 20. Clin Chem. 2018. PMID: 30237149

10

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.

Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Poskanzer SA, et al. Among authors: vidal folch n. Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12. Am J Med Genet A. 2021. PMID: 33044030 Free PMC article.

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