Shimul Chowdhury
Overview
Explore the profile of Shimul Chowdhury including associated specialties, affiliations and a list of published articles.
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Articles
48
Citations
1566
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0
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Recent Articles
1.
Chowdhury S, Kesling M, Collins M, Lopez V, Xue Y, Oliveira G, et al.
J Mol Diagn
. 2024 Sep;
26(10):888-896.
PMID: 39230538
Early detection of pancreatic cancer has been shown to improve patient survival rates. However, effective early detection tools to detect pancreatic cancer do not currently exist. The Avantect Pancreatic Cancer...
2.
James K, Chowdhury S, Ding Y, Batalov S, Watkins K, Kwon Y, et al.
Genet Med
. 2023 Oct;
26(1):101006.
PMID: 37869996
Purpose: Copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with suspected genetic disease. This study describes the range of such...
3.
Rodriguez A, Schain K, Jayakar P, Wright M, Chowdhury S, Salyakina D
Clin Case Rep
. 2023 Aug;
11(8):e7753.
PMID: 37529132
We report two, genotypically identical but phenotypically distinct cases of Schaaf-Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis...
4.
Baghdassarian H, Blackstone S, Clay O, Philips R, Matthiasardottir B, Nehrebecky M, et al.
N Engl J Med
. 2023 May;
388(24):2241-2252.
PMID: 37256972
Background: Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high....
5.
Haan D, Bergamaschi A, Friedl V, Guler G, Ning Y, Reggiardo R, et al.
Clin Gastroenterol Hepatol
. 2023 Mar;
21(7):1802-1809.e6.
PMID: 36967102
Background & Aims: Early detection of pancreatic cancer (PaC) can drastically improve survival rates. Approximately 25% of subjects with PaC have type 2 diabetes diagnosed within 3 years prior to...
6.
James K, Phadke S, Wong T, Chowdhury S
Clin Lab Med
. 2023 Feb;
43(1):127-143.
PMID: 36764805
No abstract available.
7.
Owen M, Wright M, Batalov S, Kwon Y, Ding Y, Chau K, et al.
JAMA Netw Open
. 2023 Feb;
6(2):e2254069.
PMID: 36757698
Importance: Understanding the causes of infant mortality shapes public health, surveillance, and research investments. However, the association of single-locus (mendelian) genetic diseases with infant mortality is poorly understood. Objective: To...
8.
Owen M, Lefebvre S, Hansen C, Kunard C, Dimmock D, Smith L, et al.
Nat Commun
. 2022 Jul;
13(1):4057.
PMID: 35882841
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with...
9.
Austin-Tse C, Jobanputra V, Perry D, Bick D, Taft R, Venner E, et al.
NPJ Genom Med
. 2022 Apr;
7(1):27.
PMID: 35395838
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are...
10.
Kobayashi E, Waldman B, Engorn B, Perofsky K, Allred E, Briggs B, et al.
Front Pediatr
. 2022 Feb;
9:809536.
PMID: 35141181
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness...