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James R Knight

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Articles 25
Citations 4353
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Recent Articles
1.
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, et al.
Proc Natl Acad Sci U S A . 2025 Mar; 122(10):e2419992122. PMID: 40030011
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the...
2.
Robles-Oteiza C, Hastings K, Choi J, Sirois I, Ravi A, Exposito F, et al.
J Exp Med . 2024 Nov; 222(1. PMID: 39585348
Despite the established use of immune checkpoint inhibitors (ICIs) to treat non-small cell lung cancer (NSCLC), only a subset of patients benefit from treatment and ∼50% of patients whose tumors...
3.
Youngblood M, Erson-Omay Z, Li C, Najem H, Coskun S, Tyrtova E, et al.
Nat Commun . 2023 Oct; 14(1):6279. PMID: 37805627
Hedgehog signaling mediates embryologic development of the central nervous system and other tissues and is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, the most common primary brain...
4.
Agidigbi T, Kwon H, Knight J, Zhao D, Lee F, Oh I
Front Cell Infect Microbiol . 2023 Jul; 13:1198115. PMID: 37434783
Introduction: Infection in diabetic foot ulcers (DFUs) is one of the major complications associated with patients with diabetes. is the most common offending pathogen in patients with infected DFU. Previous...
5.
Kundishora A, Allington G, McGee S, Mekbib K, Gainullin V, Timberlake A, et al.
Nat Med . 2023 Mar; 29(3):667-678. PMID: 36879130
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an integrated analysis of...
6.
George S, Suwondo P, Akorli J, Otchere J, Harrison L, Bilguvar K, et al.
Sci Rep . 2022 Jul; 12(1):11459. PMID: 35794459
Global control of hookworm infections relies on periodic Mass Drug Administration of benzimidazole drugs to high-risk groups, regardless of infection status. Mutations in the isotype-1 β-tubulin gene have been identified...
7.
Drelichman G, Fernandez Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, et al.
Mol Genet Metab Rep . 2021 Nov; 29:100820. PMID: 34820281
Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad...
8.
Kundishora A, Peters S, Pinard A, Duran D, Panchagnula S, Barak T, et al.
JAMA Neurol . 2021 Jun; 78(8):993-1003. PMID: 34125151
Importance: Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is...
9.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet . 2021 Jan; 53(3):412. PMID: 33432185
No abstract available.
10.
Knight J, Dunne E, Mulholland E, Saha S, Satzke C, Tothpal A, et al.
Microb Genom . 2020 Dec; 7(1). PMID: 33355528
Serotyping of is a critical tool in the surveillance of the pathogen and in the development and evaluation of vaccines. Whole-genome DNA sequencing and analysis is becoming increasingly common and...