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Debarshi Mustafi on Muck Rack

Debarshi Mustafi

As seen in: JAMA (The Journal of the American Medical Association), The American Journal of Human Genetics, Oxford Nanopore Technologies, Diabetes Research and Clinical Practice
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Articles

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

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By Siying Lin, Francesca Cancellieri, Andrew Lotery, Abigail R. Moye, Veronika Vaclavik, Elena R. Schiff, Mukhtar Ullah, Ana Belén Iglesias-Romero, Karolina Kaminska Verified, Marc Folcher, Sandrine Wallerich, Mariana Ribeiro Verified, Vincent Hahaut, Simone Picelli, Debarshi Mustafi, Aleksander Tworak, Yumei Li, Jiaxiong Lu, Meng Wang, Omar A. Mahroo, Shyamanga Borooah, Mathieu Quinodoz, Krzysztof Palczewski, Andrew Webster, Rui Chen, Gavin Arno, Yexuan Cao, Fabienne Perren, Andrzej B. Poplawski, Aleksandr Jestin, Roman Smidak
| The American Journal of Human Genetics Verified
Keywords inherited retinal dystrophy retinitis pigmentosa FSD1L cilia genome sequencing retinal transcriptomics single-cell transcriptome splice variant retina-enriched isoform nanopore sequencing Main text Inherited retinal disease (IRD) describes a clinically and genetically heterogeneous group of disorders characterized typically by progressive retinal degeneration, leading to visual impairment and blindness.
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Benchmarking AlphaMissense Against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases

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By Mark Lindquist, Debarshi Mustafi, Stefan T. Stafie
| ophthalmologyscience.org
Keywords AlphaMissense CADD ClinVar Hypomorphic variants Inherited retinal diseases Variants of uncertain significance Variant prediction Introduction Inherited retinal diseases (IRDs) are a heterogeneous group of genetic disorders characterized by dysfunction of photoreceptor cells and/or the retinal pigment epithelium. IRDs affect approximately 2 million people worldwide and are a leading cause of blindness in the working-age population1.
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Oxford Nanopore at AACR 2025

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By Claire Attwooll, Debarshi Mustafi, Gabriel K. Griffin
| Oxford Nanopore Technologies
Join us to explore how nanopore sequencing enables the integration of multiomic molecular information to deepen our understanding of cancer biology and pave the way for more precise diagnostics in the future. In this session, you will learn how Dr. Debarshi Mustafi, professor of ophthalmology at the UW School of Medicine is using nanopore sequencing to determine parent of origin in Retinoblastoma, which is associated with different disease trajectories.
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