Joseph Farris

5PUBLICATIONS
15CO-AUTHORS
Genome structure and regulationGene mappingDevelopmental genetics (incl. sex determination)Neurogenetics
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Publications (5)

|Sep 09, 2026
A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

|Apr 23, 2026
Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

|Jan 18, 2024
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Joseph Farris, Cheryl Khanna, James B Smadbeck

|Feb 01, 2021
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Joseph Farris, Md Suhail Alam, Arpitha Mysore Rajashekara

|May 19, 2020
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Joseph Farris, Barbara Calhoun, Md Suhail Alam

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Frequent Collaborators

2 joint publications

Deepak Panwar

2 joint publications

Karthik Muthusamy

2 joint publications

Kasturi Haldar

2 joint publications

Md Suhail Alam