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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. Li D, et al. Among authors: hakonarson h. Sci Adv. 2021 May 12;7(20):eabf2066. doi: 10.1126/sciadv.abf2066. Print 2021 May. Sci Adv. 2021. PMID: 33980485 Free PMC article.
The genetics of asthma and allergic disorders.
March ME, Sleiman PM, Hakonarson H. March ME, et al. Among authors: hakonarson h. Discov Med. 2011 Jan;11(56):35-45. Discov Med. 2011. PMID: 21276409 Free article. Review.
Neutral mitochondrial heteroplasmy and the influence of aging.
Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. Sondheimer N, et al. Among authors: hakonarson h. Hum Mol Genet. 2011 Apr 15;20(8):1653-9. doi: 10.1093/hmg/ddr043. Epub 2011 Feb 4. Hum Mol Genet. 2011. PMID: 21296868 Free PMC article.
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Conlin LK, et al. Among authors: hakonarson h. Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169773
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. Gallant E, et al. Among authors: hakonarson h. Am J Med Genet A. 2013 Sep;161A(9):2148-57. doi: 10.1002/ajmg.a.36042. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873582 Free PMC article.
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID. Tsai EA, et al. Among authors: hakonarson h. Am J Med Genet A. 2013 Sep;161A(9):2134-47. doi: 10.1002/ajmg.a.36038. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897863 Free PMC article.
1,032 results