Author

Alejandro Nieto-Patlan

Department of Pediatrics, Baylor College of Medicine, Houston, TX; Division of Pediatric Immunology, Allergy, and Retrovirology, Texas Childrens Hospital, Houston, TX;

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Genetic & Genomic Medicine· 1

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Alice Y Chan· 1 shared Bo YuaniD· 1 shared Brian Hon-Yin Chung· 1 shared Britt A Johnson· 1 shared Eric J Allenspach· 1 shared Ivan K Chinn· 1 shared James Verbsky· 1 shared Jennifer M. PuckiD· 1 shared

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2026-2026 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Alice Y Chan

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Recent·Most cited

Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Vanessa Cristina Jacovas, Yasemin Demirkol, Alejandro Nieto-Patlan, Shiloh Martin, Shannon McNulty, Eric J Allenspach, Svetlana Vakkilainen, Luigi D Notarangelo, Jennifer M. Puck, Jolan Walter, Alice Y Chan, Morton J Cowan, Michael S Hershfield, Nicolai S. C. van Oers, James Verbsky, , Ivan K Chinn

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

medRxiv · Nov 3, 2026 · PreprintGenetic & Genomic Medicine