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Microarray-based mutation detection in the dystrophin gene.
Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Hegde MR, et al. Among authors: mulle jg. Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831. Hum Mutat. 2008. PMID: 18663755 Free PMC article.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: mulle jg. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Luo Y, et al. Among authors: mulle jg. Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729882 Free PMC article.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: mulle jg. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group; Rudd MK. Goldlust IS, et al. Among authors: mulle jg. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26. Proc Natl Acad Sci U S A. 2013. PMID: 23980137 Free PMC article.
92 results