James Knight

Yale Cancer Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

38h-index16.7kcitations115works6.32yr avg
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Research Topics

Genomics and Phylogenetic Studies(16), Genomics and Rare Diseases(6), Genetic diversity and population structure(5), Cutaneous Melanoma Detection and Management(4), Chromosomal and Genetic Variations(4)

Publications112 total

SUN-155 The Prevalence of Pathogenic Variants in Medically Actionable Genes Among Women with Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome
Journal of the Endocrine Society·2025Open Access
LZTR1 is a melanoma oncogene that promotes invasion and suppresses apoptosis
Oncogene·2025Open Access
Activation of Pvt1b isoform contributes to local Pvt1 abundance to repress Myc during stress
PLoS Genetics·2025· 1 citedOpen Access
Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Genes·2025Open Access
Mutations in 329 probands with suspected renal electrolyte disorders
2025Open Access
Auto-sumoylation of the yeast Ubc9 E2 SUMO-conjugating enzyme extends cellular lifespan
Nature Communications·2025· 2 citedOpen Access
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Proceedings of the National Academy of Sciences·2025· 15 citedOpen Access
Recessive genetic contribution to congenital heart disease in 5,424 probands
Proceedings of the National Academy of Sciences·2025· 9 citedOpen Access
Transcriptomic landscape of cumulus cells from patients <38 years old with a history of poor ovarian response (POR) treated with platelet-rich plasma (PRP)
Aging·2025Open Access
Hypoxia is linked to acquired resistance to immune checkpoint inhibitors in lung cancer
The Journal of Experimental Medicine·2024· 16 citedOpen Access
Improved Survival With Adjuvant Cyclooxygenase 2 Inhibition in <i>PIK3CA</i>-Activated Stage III Colon Cancer: CALGB/SWOG 80702 (Alliance)
Journal of Clinical Oncology·2024· 20 citedOpen Access
Innate Immune Mechanisms Associated With Exacerbations on Mepolizumab
2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Molecular and Cellular Endocrinology·2024· 5 cited
Auto-sumoylation of the Ubc9 E2 SUMO-conjugating Enzyme Extends Cellular Lifespan
2024Open Access
Activated sputum eosinophils associated with exacerbations in children on mepolizumab
Journal of Allergy and Clinical Immunology·2024· 27 citedOpen Access
Low-frequency inherited complement receptor variants are associated with purpura fulminans
Blood·2023· 8 citedOpen Access
Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma
2023· 1 citedOpen Access
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
Nature Communications·2023· 17 citedOpen Access
Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Cancer Genetics·2023· 1 cited
Transcriptomic identification of genes expressed in invasive S. aureus diabetic foot ulcer infection
Frontiers in Cellular and Infection Microbiology·2023· 10 citedOpen Access
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Frequent Co-authors

Shrikant Mane(14), Richard P. Lifton(14), Kaya Bilgüvar(11), Sheng Chih Jin(9), Christopher Castaldi(9), Murat Günel(9), Jungmin Choi(9), Francesc López‐Giráldez(9), Carol Nelson‐Williams(9), Qiongshi Lu(8), Shozeb Haider(8), Xue Zeng(7), Weilai Dong(7), Kristopher T. Kahle(7), Charuta G. Furey(6), Seth L. Alper(6), Michael C. Sierant(5), Daniel Durán(5), August Allocco(5), Andrew T. Timberlake(5)