Debarshi Mustafi
Overview
Explore the profile of Debarshi Mustafi including associated specialties, affiliations and a list of published articles.
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46
Citations
746
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Recent Articles
1.
Phosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study
Uner O, Elsharawi R, Reynolds M, Bacci G, Bargiacchi S, Birch D, et al.
Ophthalmic Genet
. 2025 Jan;
:1-11.
PMID: 39763288
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral...
2.
Stacey A, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty E, et al.
JCI Insight
. 2024 Dec;
10(4).
PMID: 39724000
BACKGROUNDCurrent clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease, and the inability...
3.
4.
Nakamichi K, Huey J, Sangermano R, Place E, Bujakowska K, Marra M, et al.
JCI Insight
. 2024 Sep;
9(20).
PMID: 39264853
Despite advances in sequencing technologies, a molecular diagnosis remains elusive in many patients with Mendelian disease. Current short-read clinical sequencing approaches cannot provide chromosomal phase information or epigenetic information without...
5.
Wendel B, Pandiyan V, Liu T, Jiang X, Lassoued A, Slezak E, et al.
Invest Ophthalmol Vis Sci
. 2024 Aug;
65(10):45.
PMID: 39207297
Purpose: Retinitis pigmentosa (RP), the most common inherited retinal disease, is characterized by progressive photoreceptor degeneration. It remains unknown to what extent surviving photoreceptors transduce light and support vision in...
6.
Sawyer C, Huang L, Vincent J, Cabrera M, Herlihy E, Mustafi D
Ophthalmol Retina
. 2024 May;
8(2):204-206.
PMID: 38707762
Oral ingestion of fluorescein can be done in ambulatory pediatric clinics. We show that oral ultra-widefield fluorescein angiography is a non-invasive approach to rapidly diagnose and manage a diverse set...
7.
Mustafi D, Sawyer C, Huang L
Ophthalmol Retina
. 2024 Jan;
8(3):e7-e8.
PMID: 38189691
No abstract available.
8.
Mustafi D, Huang J, Ting M, Waligorski N, Stacey A, Huang L
Retina
. 2023 Dec;
44(5):e31-e33.
PMID: 38100768
No abstract available.
9.
Gupta P, Nakamichi K, Bonnell A, Yanagihara R, Radulovich N, Hisama F, et al.
NPJ Genom Med
. 2023 Aug;
8(1):20.
PMID: 37558662
Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases (IRDs), reclassification of variants of uncertain significance (VUS) can provide a genetic...
10.
Nakamichi K, Van Gelder R, Chao J, Mustafi D
Sci Rep
. 2023 May;
13(1):8535.
PMID: 37237007
Inherited retinal degenerations (IRDs) are a heterogeneous group of predominantly monogenic disorders with over 300 causative genes identified. Short-read exome sequencing is commonly used to genotypically diagnose patients with clinical...