Author

Scott B. Drutman

Rockefeller UniversityORCID 0000-0002-4222-5684Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Bruno ReversadeiD· 2 shared Jean‐Laurent CasanovaiD· 2 shared Ricardo Moreno TraspasiD· 2 shared Akiko ShimamuraiD· 1 shared Alaa Arafat· 1 shared Andreas MayeriD· 1 shared Annick Raas‐RothschildiD· 1 shared Annkatrin BressiniD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bruno ReversadeORCID

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2 papers

Recent·Most cited

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

Cassandra R. Harapas, Kim S. Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Raas‐Rothschild, Bertrand Boisson, Scott B. Drutman, Pawat Laohamonthonkul, Devon E. Bonner, Jingwei Rachel Xiong, Mark D. Gorrell, Sophia Davidson, Chien‐Hsiung Yu, , Bruno Reversade

This study identifies DPP9 deficiency as a Mendelian disorder causing inflammasome hyperactivity, which can be rescued by reducing NLRP1/IL-1 signaling in mice.

Science Immunology · Sep 16, 2022Peer-reviewedGenetic & Genomic Medicine

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia, Ricardo Moreno Traspas, Nathalie Escande‐Beillard, Carine Bonnard, Zohreh Hojati, Scott B. Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Mohammad Shboul, , Bruno Reversade

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

medRxiv · Jul 15, 2022 · PreprintGenetic & Genomic Medicine