Patrick McMullen

3PUBLICATIONS
13CO-AUTHORS
Medical devicesEpigenetics (incl. genome methylation and epigenomics)Vision science
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Publications (3)

|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

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

Anushree Aneja, Brenda L Bohnsack, Valerie Allegretti

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Frequent Collaborators

3 joint publications

Andy Drackley

3 joint publications

Alexander Ing

2 joint publications

Brenda L Bohnsack

2 joint publications

Andrew Skol