-
Saha, A, Kim, Y, Gewirtz, ADH, Jo, B, Gao, C, McDowell, IC, Consortium, TG, Engelhardt, BE, Battle, A, Aguet, F, et al.
Co-expression networks reveal the tissue-specific regulation of transcription and splicing.
Genome Research
27(11)
:
1843 -1858
2017
view publication
-
Bolduc, V, Foley, A, Donkervoort, S, Hu, Y, Cummings, B, Lek, M, Sarathy, A, Sizov, K, Degefa, H, Wagener, R, et al.
NG.O.14 A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides.
Neuromuscular Disorders
27:
s177
2017
view publication
-
Foley, AR, Donkervoort, S, Bolduc, V, Hu, Y, Cummings, B, Lek, M, Sarkozy, A, Jimenez-Mallebrera, C, Butterfield, R, Lamande, S, et al.
P.25 A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy.
Neuromuscular Disorders
27:
s106
2017
view publication
-
Oates, E, Yau, K, Jones, K, Smith, J, Cummings, B, Farrar, M, Cooper, S, Lek, M, Hoffman, E, Straub, V, et al.
P.473 Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?.
Neuromuscular Disorders
27:
s237 -s238
2017
view publication
-
Aguet, F, Ardlie, KG, Cummings, BB, Gelfand, ET, Getz, G, Hadley, K, Handsaker, RE, Huang, KH, Kashin, S, Karczewski, KJ, et al.
Landscape of X chromosome inactivation across human tissues.
Nature
550(7675)
:
244 -248
2017
view publication