Author

Mark E. Dulchavsky

Howard Hughes Medical InstituteORCID 0000-0002-5253-8924Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:bacteria (other)· 1 Approach:experimental assay· 1 Research Focus:host-pathogen & immune response· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aaron M. RobidaiD· 1 shared Aashnaa Singh· 1 shared Abduarahman Almutairi· 1 shared Agustin Bernacchia· 1 shared Alejandro Nieto-PatlániD· 1 shared Alice Y. K. ChaniD· 1 shared AMUDHA RAMACHANDRANiD· 1 shared Anita Chacko· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBiochemistry

Aaron M. RobidaORCID

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2 papers

Recent·Most cited

Isolation of oxygen-dependent nicotine- and pseudooxynicotine-metabolizing enzymes

Tejas A. Navaratna, Javeria Akram, Thea D Pazdernik, AMUDHA RAMACHANDRAN, Pamela Schultz, Mark E. Dulchavsky, Xavier Choussat, Claire Oczon, Aashnaa Singh, Nikhil Myers, Aaron M. Robida, Ashootosh Tripathi, Frederick W. Stull, James C.A. Bardwell

This paper identifies two oxygen-dependent nicotine and pseudooxynicotine metabolizing enzymes with higher catalytic efficiency than NicA2, suggesting their potential for therapeutic and biotechnological applications.

bioRxiv · Aug 28, 2026 · PreprintBiochemistry

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty, Justyne E. Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto-Patlán, Shiloh Martin, Benjamin McLean, Marwa Elnagheeb, Morton Jerome Cowan, Jennifer M. Puck, M S Hershfield, James W. Verbsky, Jolan Eszter Walter, , Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

Genetics in Medicine · Oct 15, 2025Peer-reviewedGenetic & Genomic Medicine