|
Lupski, James R; Belmont, John W; Boerwinkle, Eric et al. (2011) Clan genomics and the complex architecture of human disease. Cell 147:32-43
|
|
Inoue, Ken; Ohyama, Tomoko; Sakuragi, Yosuke et al. (2007) Translation of SOX10 3'untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet 16:3037-46
|
|
Khajavi, Mehrdad; Shiga, Kensuke; Wiszniewski, Wojciech et al. (2007) Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 81:438-53
|
|
Szigeti, Kinga; Nelis, Eva; Lupski, James R (2006) Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med 8:243-54
|
|
Lee, Jennifer A; Madrid, Ricardo E; Sperle, Karen et al. (2006) Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol 59:398-403
|
|
Shy, Michael E; Scavina, Mena T; Clark, Alisa et al. (2006) T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol 59:358-64
|
|
Khajavi, Mehrdad; Inoue, Ken; Lupski, James R (2006) Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14:1074-81
|
|
Lee, Jennifer A; Inoue, Ken; Cheung, Sau W et al. (2006) Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15:2250-65
|
|
Lee, Jennifer A; Cheung, Sau W; Ward, Patricia A et al. (2005) Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn 25:1188-91
|
|
Kurotaki, Naohiro; Shen, Joseph J; Touyama, Mayumi et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7:479-83
|
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