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Page 1
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: wilkens a. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 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: wilkens a. 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
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: wilkens ab. Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532898 Free PMC article.
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: wilkens ab. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26. Am J Med Genet A. 2013. PMID: 23804593 Free PMC article.
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: wilkens a. 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.
Cardiac manifestations of Pallister-Killian syndrome.
Tilton RK, Wilkens A, Krantz ID, Izumi K. Tilton RK, et al. Among authors: wilkens a. Am J Med Genet A. 2014 May;164A(5):1130-5. doi: 10.1002/ajmg.a.36413. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504854
54 results