James Knight, PhD
Research Scientist in GeneticsCards
About
Research
Publications
Featured Publications
Determining the serotype composition of mixed samples of pneumococcus using whole-genome sequencing
Knight JR, Dunne EM, Mulholland EK, Saha S, Satzke C, Tothpal A, Weinberger DM. Determining the serotype composition of mixed samples of pneumococcus using whole-genome sequencing. Microbial Genomics 2020, 7: mgen000494. PMID: 33355528, PMCID: PMC8115901, DOI: 10.1099/mgen.0.000494.Peer-Reviewed Original ResearchIntegrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis
Farshidfar F, Rhrissorrakrai K, Levovitz C, Peng C, Knight J, Bacchiocchi A, Su J, Yin M, Sznol M, Ariyan S, Clune J, Olino K, Parida L, Nikolaus J, Zhang M, Zhao S, Wang Y, Huang G, Wan M, Li X, Cao J, Yan Q, Chen X, Newman AM, Halaban R. Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis. Nature Communications 2022, 13: 898. PMID: 35197475, PMCID: PMC8866401, DOI: 10.1038/s41467-022-28566-4.Peer-Reviewed Original ResearchUnexplained Female Infertility Associated with Genetic Disease Variants
Dougherty M, Poch A, Chorich L, Hawkins Z, Xu H, Roman R, Liu H, Brakta S, Taylor H, Knight J, Kim H, Diamond M, Layman L. Unexplained Female Infertility Associated with Genetic Disease Variants. The New England Journal Of Medicine 2023, 388: 1055-1056. PMID: 36920765, PMCID: PMC10134047, DOI: 10.1056/nejmc2211539.Commentaries, Editorials and Letters
2026
Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet induced steatotic liver disease
Singh A, Chaube B, Citrin K, Fowler J, Lee S, Catarino J, Knight J, Lowery S, Shree S, Mahoney K, Boutagy N, Ruz-Maldonado I, Harry K, Shanabrough M, Ross T, Malaker S, Suárez Y, Fernández-Hernando C, Grabińska K, Sessa W. Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet induced steatotic liver disease. Journal Of Clinical Investigation 2026, 136: e197719. PMID: 41805633, PMCID: PMC13132402, DOI: 10.1172/jci197719.Peer-Reviewed Original ResearchOptimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease
Ma D, Cho S, Meng X, Gulati A, Knight J, Goralsky L, Peng G, Shaw M, Widomski A, Popa A, Zhao C, Dykas D, Tikhonova I, Bale A, Somlo S, Zhang H, Besse W. Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease. Genetics In Medicine 2026, 28: 102529. PMID: 41653026, DOI: 10.1016/j.gim.2026.102529.Peer-Reviewed Original Research
2025
Pathogenic variants in medically actionable genes among women with Mayer-Rokitansky-Küster-Hauser syndrome
Theisen J, Chorich L, Hawkins Z, Xu H, Knight J, Kim H, Taylor H, Layman L. Pathogenic variants in medically actionable genes among women with Mayer-Rokitansky-Küster-Hauser syndrome. BMJ Connections Clinical Genetics And Genomics 2025, 2: e000004. DOI: 10.1136/bmjccgg-2024-000004.Peer-Reviewed Original ResearchLZTR1 is a melanoma oncogene that promotes invasion and suppresses apoptosis
Bacchiocchi A, Mak M, Khan Z, Gong X, Sznol M, Na Z, Su H, Chan L, Yan Q, Zhao D, Mortlock R, Knight J, Slavoff S, Halaban R. LZTR1 is a melanoma oncogene that promotes invasion and suppresses apoptosis. Oncogene 2025, 44: 3974-3984. PMID: 40885854, PMCID: PMC12500468, DOI: 10.1038/s41388-025-03538-2.Peer-Reviewed Original ResearchActivation of Pvt1b isoform contributes to local Pvt1 abundance to repress Myc during stress
Li Q, Olivero C, Floyd E, Ding J, Dangelmaier E, Knight J, Dimitrova N. Activation of Pvt1b isoform contributes to local Pvt1 abundance to repress Myc during stress. PLOS Genetics 2025, 21: e1011790. PMID: 40743223, PMCID: PMC12312954, DOI: 10.1371/journal.pgen.1011790.Peer-Reviewed Original ResearchCopy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Li W, Xie X, Chai H, DiAdamo A, Bistline E, Li P, Dai Y, Knight J, Avni-Singer A, Burger J, Ment L, Spencer-Manzon M, Zhang H, Wen J. Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. Genes 2025, 16: 874. PMID: 40869922, PMCID: PMC12385847, DOI: 10.3390/genes16080874.Peer-Reviewed Original ResearchAuto-sumoylation of the yeast Ubc9 E2 SUMO-conjugating enzyme extends cellular lifespan
Jeong D, Lee D, Kim S, Jeoung S, Zhao D, Knight J, Lam T, Jin J, Lee H, Hochstrasser M, Ryu H. Auto-sumoylation of the yeast Ubc9 E2 SUMO-conjugating enzyme extends cellular lifespan. Nature Communications 2025, 16: 3735. PMID: 40254622, PMCID: PMC12009981, DOI: 10.1038/s41467-025-58925-w.Peer-Reviewed Original Research