Author

Amar J. Majmundar

Boston Children's HospitalORCID 0000-0002-9891-178XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Assay:proteomics· 1

Frequent Co-Authors

Friedhelm HildebrandtiD· 3 shared Alexander Rubin· 2 shared Arathi Ranga· 2 shared Lorrin LiangiD· 2 shared Sunwoo Hong· 2 shared Victoria C. Gauntner· 2 shared Vineeta SharmaiD· 2 shared Alexis C. GomeziD· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Friedhelm HildebrandtORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria C. Gauntner, Kavita Krueger, Jiansong Qi, Josée Normand, Vineeta Sharma, Arathi Ranga, Alexander Rubin, David Ball, Sunwoo Hong, Katharina Lemberg, Ken Saida, Lea Maria Merz, , Amar J. Majmundar

This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

Nature Communications · Nov 27, 2025Peer-reviewedGenetic & Genomic Medicine

Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy

Hari Singh, Vineeta Sharma, Jik Nijssen, Andrei Pozniakovsky, Alexander Rubin, Lorrin Liang, David A. Ball, Sunwoo Hong, Victoria C. Gauntner, Guanghao Yu, Arathi Ranga, David J. Salant, Friedhelm Hildebrandt, Anthony A. Hyman, Amar J. Majmundar

This study investigates mesoscale organization of TRIM proteins, finding that TRIM8 truncations cause condensatopathy by disrupting condensation and signaling pathways.

bioRxiv · Jan 2, 2025 · PreprintCell Biology

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela Anne Braun, Monkol Lek, Kristen M. Laricchia, Hanan Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay‐Woodford

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.

Scientific Reports · Sep 14, 2021Peer-reviewedMolecular Biology