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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.
Yu R, Roseman S, Siegenfeld AP, Gardner Z, Nguyen SC, Tran KA, Joyce EF, Jain R, Liau BB, Krantz ID, Alexander KA, Berger SL. Yu R, et al. Nat Struct Mol Biol. 2025 Jun;32(6):1069-1080. doi: 10.1038/s41594-024-01465-6. Epub 2025 Feb 21. Nat Struct Mol Biol. 2025. PMID: 39984730 Free PMC article.
Cohesin and human disease.
Liu J, Krantz ID. Liu J, et al. Annu Rev Genomics Hum Genet. 2008;9:303-20. doi: 10.1146/annurev.genom.9.081307.164211. Annu Rev Genomics Hum Genet. 2008. PMID: 18767966 Free PMC article. Review.
Cohesin embraces new phenotypes.
Krantz ID. Krantz ID. Nat Genet. 2014 Nov;46(11):1157-8. doi: 10.1038/ng.3123. Nat Genet. 2014. PMID: 25352100 Free PMC article.
74 results