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Page 1
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF. Maduro V, et al. Among authors: mullikin jc. Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6. Orphanet J Rare Dis. 2016. PMID: 27179618 Free PMC article.
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program; Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. Biesecker LG, et al. Among authors: mullikin jc. Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14. Genome Res. 2009. PMID: 19602640 Free PMC article.
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center (NISC); Chong K, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: mullikin jc. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451169 Free PMC article.
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gunay-Aygun M, et al. Among authors: mullikin jc. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13. Blood. 2010. PMID: 20709904 Free PMC article.
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: mullikin jc. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.
Personalized genomic medicine: lessons from the exome.
Solomon BD, Pineda-Alvarez DE, Hadley DW, NISC Comparative Sequencing Program, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, Sincan M, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: mullikin jc. Mol Genet Metab. 2011 Sep-Oct;104(1-2):189-91. doi: 10.1016/j.ymgme.2011.06.022. Epub 2011 Jul 5. Mol Genet Metab. 2011. PMID: 21767969 Free PMC article.
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.
Pilon AM, Ajay SS, Kumar SA, Steiner LA, Cherukuri PF, Wincovitch S, Anderson SM; NISC Comparative Sequencing Center; Mullikin JC, Gallagher PG, Hardison RC, Margulies EH, Bodine DM. Pilon AM, et al. Among authors: mullikin jc. Blood. 2011 Oct 27;118(17):e139-48. doi: 10.1182/blood-2011-05-355107. Epub 2011 Sep 6. Blood. 2011. PMID: 21900194 Free PMC article.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program. Pierson TM, et al. Among authors: mullikin jc. Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7. Eur J Hum Genet. 2012. PMID: 22146942 Free PMC article.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Among authors: mullikin jc. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Analysis of DNA sequence variants detected by high-throughput sequencing.
Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Adams DR, et al. Among authors: mullikin jc. Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28. Hum Mutat. 2012. PMID: 22290882 Free PMC article.
240 results