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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Peck DS, et al. Among authors: fisher r. Int J Neonatal Screen. 2020 Feb 7;6(1):10. doi: 10.3390/ijns6010010. eCollection 2020 Mar. Int J Neonatal Screen. 2020. PMID: 33073008 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33561047
Infantile onset Pompe disease presenting with non-immune hydrops fetalis.
Lee K, Fisher R, Quinonez SC, Ahmad A. Lee K, et al. Among authors: fisher r. Mol Genet Metab Rep. 2019 Aug 21;21:100503. doi: 10.1016/j.ymgmr.2019.100503. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31467850 Free PMC article. No abstract available.
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Among authors: fisher r. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: fisher r. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
An Abnormal Presentation of Rocky Mountain Spotted Fever: A Case Report.
Nelson JJ, Buchmiller K, Valentine MJ, Lakshmanan K, Kayastha A, Dhingra JS, Fisher RG, Parry CA, Konrad AK, Mughal A, Kirila CE. Nelson JJ, et al. Among authors: fisher rg. Cureus. 2024 Mar 31;16(3):e57319. doi: 10.7759/cureus.57319. eCollection 2024 Mar. Cureus. 2024. PMID: 38690503 Free PMC article.
Corrigendum to Contractility defects hinder glycoprotein VI-mediated platelet activation and affect platelet functions beyond clot contraction [Research and Practice in Thrombosis and Haemostasis Volume 8, Issue 1, January 2024, 102322].
Kenny M, Pollitt AY, Patil S, Hiebner DW, Smolenski A, Lakic N, Fisher R, Alsufyani R, Lickert S, Vogel V, Schoen I. Kenny M, et al. Among authors: fisher r. Res Pract Thromb Haemost. 2024 Apr 22;8(3):102414. doi: 10.1016/j.rpth.2024.102414. eCollection 2024 Mar. Res Pract Thromb Haemost. 2024. PMID: 38680968 Free PMC article.
Publisher Correction: A Dataset of Amphibian Species in U.S. National Parks.
LaFrance BJ, Ray AM, Fisher RN, Grant EHC, Shafer C, Beamer DA, Spear SF, Pierson TW, Davenport JM, Niemiller ML, Pyron RA, Glorioso BM, Barichivich WJ, Halstead BJ, Roberts KG, Hossack BR. LaFrance BJ, et al. Among authors: fisher rn. Sci Data. 2024 Apr 22;11(1):409. doi: 10.1038/s41597-024-03257-5. Sci Data. 2024. PMID: 38649357 Free PMC article. No abstract available.
3,950 results