Author

Luigi D Notarangelo

Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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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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Alejandro Nieto-Patlan· 1 shared 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

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2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alejandro Nieto-Patlan

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 3, 2026

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…·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.

DOI 10.64898/2026.11.02.26366506

humanDNA methylation

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