Julian Martinez-Agosto

30PUBLICATIONS
128CO-AUTHORS
Gene mappingEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Data qualityInfant and child health
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Publications (30)

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Oct 27, 2025
Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.

Akhila Vadivelan, Geraldine Aubert, Julian A Martinez

|Sep 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Samuel M Bradbrook, Gail Graham, Melissa T Carter

|May 25, 2024
Enhancing multi-site autism research through the development of a collaborative data platform.

Jeffrey T Anderson, Jeffrey D Roth, Kashia A Rosenau

|Mar 19, 2024
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Andrew Dhawan, Sarah Baitamouni, Darren Liu

|Feb 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers

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Frequent Collaborators

4 joint publications

Fabiola Quintero-Rivera

3 joint publications

Siddharth Srivastava

2 joint publications

Robyn M Busch

2 joint publications

Yue Huang