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Molecular Genetics and Metabolism Reports|March 12, 2024
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the <i>SLC52A3</i> geneElizabeth S Tranel, Bridget McGowan, Andy Drackley, et al.
American Journal of Medical Genetics. Part A|December 4, 2025
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic EncephalopathyAndy Drackley, Merlene Peter, Heba H Akbari, et al.
American Journal of Medical Genetics. Part A|September 11, 2024
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New IndividualsAnne M McRae, Jaime Duncan, Andy Drackley, et al.
The Journal of Molecular Diagnostics : JMD|July 22, 2022
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 LaboratoryAndy Drackley, Casey Brew, Alissa Wlodaver, et al.
Genes|January 21, 2023
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric PopulationKyle S Chan, Brenda L Bohnsack, Alexander Ing, et al.
Ophthalmology. Retina|December 15, 2024
Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler SyndromeAndy Drackley, Hantamalala Ralay Ranaivo, Valerie Allegretti, et al.
American Journal of Medical Genetics. Part A|April 10, 2024
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysisKunal Kanwar, Saffiya Bashey, Brenda L Bohnsack, et al.
Genes|June 27, 2024
A Case of Non-Syndromic Congenital Cataracts Caused by a Novel <i>MAF</i> Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature ReviewSharon H Zhao, Kai Lee Yap, Valerie Allegretti, et al.
Genes|August 28, 2025
<i>GPR143</i>-Associated Ocular Albinism in a Hispanic Family and Review of the LiteratureAnushree Aneja, Brenda L Bohnsack, Valerie Allegretti, et al.
Ophthalmic Genetics|May 6, 2026
Evaluating gene-disease relationship strength in crystallin genes in association with pediatric cataractsAlexander Ing, Allison Goetsch Weisman, Andy Drackley, et al.
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