Johnson AK - Search Results

1

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D. Li Z, et al. Among authors: johnson ak. J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26. J Hum Genet. 2015. PMID: 25809939 Free PMC article.

2

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: johnson ak. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.

3

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Moey C, Topper S, Karn M, Johnson AK, Das S, Vidaurre J, Shoubridge C. Moey C, et al. Among authors: johnson ak. Eur J Hum Genet. 2016 May;24(5):681-9. doi: 10.1038/ejhg.2015.176. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306640 Free PMC article.

4

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Johnson AK, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Among authors: johnson ak. Genet Med. 2020 Mar;22(3):670-671. doi: 10.1038/s41436-019-0725-5. Genet Med. 2020. PMID: 31844178 Free article.

5

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.

Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D. Alkorta-Aranburu G, et al. Among authors: johnson ak. J Pediatr Endocrinol Metab. 2016 May 1;29(5):523-31. doi: 10.1515/jpem-2015-0341. J Pediatr Endocrinol Metab. 2016. PMID: 26894574

6

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.

Johnson AK, Gaudio DD. Johnson AK, et al. Per Med. 2014 Mar;11(2):155-165. doi: 10.2217/pme.13.111. Per Med. 2014. PMID: 29751380

7

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.

Wain KE, Azzariti DR, Goldstein JL, Johnson AK, Krautscheid P, Lepore B, O'Daniel JM, Ritter D, Savatt JM, Riggs ER, Martin CL. Wain KE, et al. Among authors: johnson ak. Genet Med. 2020 Apr;22(4):785-792. doi: 10.1038/s41436-019-0705-9. Epub 2019 Nov 22. Genet Med. 2020. PMID: 31754268 Free PMC article.

8

Evaluation of laboratory perspectives on hereditary cancer panels.

Stoll J, Weissman SM, Hook N, Selkirk C, Johnson AK, Newlin A, Vogel Postula KJ. Stoll J, et al. Among authors: johnson ak. Fam Cancer. 2016 Oct;15(4):689-96. doi: 10.1007/s10689-016-9880-x. Fam Cancer. 2016. PMID: 26869169

9

Mild hypothermia is associated with altered volume kinetic parameters of an intravenous crystalloid fluid bolus in healthy isoflurane-anesthetized cats.

Gelendi S, Yiew XT, Bateman S, Gerken K, Kuo KW, Ravis WR, Johnson AK, Liao PT. Gelendi S, et al. Among authors: johnson ak. Am J Vet Res. 2024 Dec 23:1-10. doi: 10.2460/ajvr.24.09.0279. Online ahead of print. Am J Vet Res. 2024. PMID: 39715588 Free article.

10

Protocol: the American Women: Assessing Risk Epidemiologically (AWARE) cohort study.

Schnall R, Kempf MC, Phillips G 2nd, Dionne JA, Wingood G, Long DM, Klitzman R, Hughes TL, Liu J, Nassel AF, Corcoran JL, Johnson AK. Schnall R, et al. Among authors: johnson ak. BMC Public Health. 2024 Dec 18;24(1):3422. doi: 10.1186/s12889-024-20810-4. BMC Public Health. 2024. PMID: 39695485 Free PMC article.

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