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Year | Number of Results |
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2022 | 1 |
2023 | 3 |
2024 | 4 |
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Page 1
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
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.
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: drackley a.
Genes (Basel). 2023 Jan 3;14(1):135. doi: 10.3390/genes14010135.
Genes (Basel). 2023.
PMID: 36672876
Free PMC article.
Item in Clipboard
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.
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.
Item in Clipboard
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: drackley a.
Genes (Basel). 2023 Feb 28;14(3):608. doi: 10.3390/genes14030608.
Genes (Basel). 2023.
PMID: 36980880
Free PMC article.
Item in Clipboard
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: drackley a.
Am J Med Genet A. 2024 Apr 10:e63618. doi: 10.1002/ajmg.a.63618. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38597178
Item in Clipboard
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Tranel ES, McGowan B, Drackley A, Epstein LG, Rao VK, Kuntz NL, Schwaede AN.
Tranel ES, et al. Among authors: drackley a.
Mol Genet Metab Rep. 2024 Jan 15;38:101051. doi: 10.1016/j.ymgmr.2024.101051. eCollection 2024 Mar.
Mol Genet Metab Rep. 2024.
PMID: 38469093
Free PMC article.
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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.
Am J Med Genet A. 2024 Apr 4:e63622. doi: 10.1002/ajmg.a.63622. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38572626
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