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Page 1
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC. Flynn EK, et al. Among authors: kimble dc. Hum Mutat. 2014 Nov;35(11):1342-53. doi: 10.1002/humu.22680. Hum Mutat. 2014. PMID: 25168418 Free PMC article.
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program. Chandrasekharappa SC, et al. Among authors: kimble dc. Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23. Blood. 2013. PMID: 23613520 Free PMC article.
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Donovan FX, Kimble DC, Kim Y, Lach FP, Harper U, Kamat A, Jones M, Sanborn EM, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Donovan FX, et al. Among authors: kimble dc. Hum Mutat. 2016 May;37(5):465-8. doi: 10.1002/humu.22962. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26841305 Free PMC article.
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Asur RS, et al. Among authors: kimble dc. Mol Genet Genomic Med. 2018 Jan;6(1):77-91. doi: 10.1002/mgg3.350. Epub 2017 Nov 30. Mol Genet Genomic Med. 2018. PMID: 29193904 Free PMC article.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
Ramanagoudr-Bhojappa R, Carrington B, Ramaswami M, Bishop K, Robbins GM, Jones M, Harper U, Frederickson SC, Kimble DC, Sood R, Chandrasekharappa SC. Ramanagoudr-Bhojappa R, et al. Among authors: kimble dc. PLoS Genet. 2018 Dec 12;14(12):e1007821. doi: 10.1371/journal.pgen.1007821. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30540754 Free PMC article.
Association of clinical severity with FANCB variant type in Fanconi anemia.
Jung M, Ramanagoudr-Bhojappa R, van Twest S, Rosti RO, Murphy V, Tan W, Donovan FX, Lach FP, Kimble DC, Jiang CS, Vaughan R, Mehta PA, Pierri F, Dufour C, Auerbach AD, Deans AJ, Smogorzewska A, Chandrasekharappa SC. Jung M, et al. Among authors: kimble dc. Blood. 2020 Apr 30;135(18):1588-1602. doi: 10.1182/blood.2019003249. Blood. 2020. PMID: 32106311 Free PMC article.
A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Simpson CL, Kimble DC, Chandrasekharappa SC; NISC Comparative Sequencing Program; Alqosayer K, Holzinger E, Carrington B, McElderry J, Sood R, Al-Souqi G, Albacha-Hejazi H, Bailey-Wilson JE. Simpson CL, et al. Among authors: kimble dc. Mol Genet Genomic Med. 2023 Aug;11(8):e2179. doi: 10.1002/mgg3.2179. Epub 2023 Apr 18. Mol Genet Genomic Med. 2023. PMID: 37070724 Free PMC article.