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54 results

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Page 1
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.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. Li MH, et al. Among authors: wilkens a. Hum Genomics. 2015 Jul 19;9(1):15. doi: 10.1186/s40246-015-0038-y. Hum Genomics. 2015. PMID: 26187847 Free PMC article.
Recommendations for the integration of genomics into clinical practice.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Bowdin S, et al. Among authors: wilkens a. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Genet Med. 2016. PMID: 27171546 Free PMC article. Review.
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Ahrens-Nicklas RC, et al. Among authors: wilkens ab. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28180185 Free PMC article.
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