Alexander Ing

12PUBLICATIONS
31CO-AUTHORS
Medical devicesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Vision scienceDevelopmental genetics (incl. sex determination)
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Publications (12)

|May 04, 2026
A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review.

|Dec 04, 2025
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.

Andy Drackley, Merlene Peter, Heba H Akbari

|Oct 08, 2025
Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing.

Karly Kern, Adam Gordon, Andy Drackley

|Aug 28, 2025
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

Anushree Aneja, Brenda L Bohnsack, Valerie Allegretti

|Sep 11, 2024
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

Anne M McRae, Jaime Duncan, Andy Drackley

|Jun 27, 2024
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.

Sharon H Zhao, Kai Lee Yap, Valerie Allegretti

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Frequent Collaborators

11 joint publications

Andy Drackley

4 joint publications

Kai Lee Yap

3 joint publications

Patrick McMullen

2 joint publications

Andrew Skol