Ing A - Search Results

1

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL. Kanwar K, et al. Among authors: ing a. Am J Med Genet A. 2024 Aug;194(8):e63618. doi: 10.1002/ajmg.a.63618. Epub 2024 Apr 10. Am J Med Genet A. 2024. PMID: 38597178

2

Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.

Drackley A, Brew C, Wlodaver A, Spencer S, Leuer K, Rathbun P, Charrow J, Wieneke X, Yap KL, Ing A. Drackley A, et al. Among authors: ing a. J Mol Diagn. 2022 Oct;24(10):1100-1111. doi: 10.1016/j.jmoldx.2022.06.005. Epub 2022 Jul 19. J Mol Diagn. 2022. PMID: 35868509 Free article.

3

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

Chan KS, Bohnsack BL, Ing A, Drackley A, Castelluccio V, Zhang KX, Ralay-Ranaivo H, Rossen JL. Chan KS, et al. Among authors: ing a. Genes (Basel). 2023 Jan 3;14(1):135. doi: 10.3390/genes14010135. Genes (Basel). 2023. PMID: 36672876 Free PMC article.

4

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

Rossen JL, Bohnsack BL, Zhang KX, Ing A, Drackley A, Castelluccio V, Ralay-Ranaivo H. Rossen JL, et al. Among authors: ing a. Genes (Basel). 2023 Feb 28;14(3):608. doi: 10.3390/genes14030608. Genes (Basel). 2023. PMID: 36980880 Free PMC article.

5

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.

Drackley A, De Simone L, Kuntz N, Rahmani S, Ing A, Rao VK, Rathbun P, Yap KL. Drackley A, et al. Among authors: ing a. Am J Med Genet A. 2024 Jan;194(1):53-58. doi: 10.1002/ajmg.a.63392. Epub 2023 Sep 4. Am J Med Genet A. 2024. PMID: 37664979 Review.

6

Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.

Drackley A, Peter M, Rathbun P, Ing A, Prada CE, Yap KL. Drackley A, et al. Among authors: ing a. Am J Med Genet A. 2024 Aug;194(8):e63622. doi: 10.1002/ajmg.a.63622. Epub 2024 Apr 4. Am J Med Genet A. 2024. PMID: 38572626

7

A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.

Zhao SH, Yap KL, Allegretti V, Drackley A, Ing A, Gordon A, Skol A, McMullen P, Bohnsack BL, Kurup SP, Ralay Ranaivo H, Rossen JL. Zhao SH, et al. Among authors: ing a. Genes (Basel). 2024 May 25;15(6):686. doi: 10.3390/genes15060686. Genes (Basel). 2024. PMID: 38927621 Free PMC article. Review.

8

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

McRae AM, Duncan J, Drackley A, Ing A, Allegretti V, Raski CR, Mercier A, Prada CE, Jurgensmeyer S. McRae AM, et al. Among authors: ing a. Am J Med Genet A. 2025 Jan;197(1):e63873. doi: 10.1002/ajmg.a.63873. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257254

9

Ophthalmological manifestations in a diverse pediatric population with Type I and Type II Stickler syndrome.

Drackley A, Ranaivo HR, Allegretti V, Ing AY, Rahmani S, Blair MP, Shapiro MJ, Bohnsack BL, Rossen JL. Drackley A, et al. Among authors: ing ay. Ophthalmol Retina. 2024 Dec 13:S2468-6530(24)00591-8. doi: 10.1016/j.oret.2024.12.014. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39675476 Free article.

10

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G. Khan RS, et al. Among authors: ing a. J Am Heart Assoc. 2022 Jan 4;11(1):e022854. doi: 10.1161/JAHA.121.022854. Epub 2021 Dec 22. J Am Heart Assoc. 2022. PMID: 34935411 Free PMC article.

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