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Items: 2

Select item 41070461.

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Przemyslaw Szafranski, Avinash V. Dharmadhikari, Jennifer A. Wambach, Chris T. Towe, Frances V. White, R. Mark Grady, Pirooz Eghtesady, F. Sessions Cole, Gail Deutsch, Partha Sen, Pawel Stankiewicz

Am J Med Genet A. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Am J Med Genet A. 2014 Aug; 164(8): 2013–2019. Published online 2014 May 19. doi: 10.1002/ajmg.a.36606

PMCID:: PMC4107046

Article PDF–782K

Select item 35306812.

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemyslaw Szafranski, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna E. Kołodziejska, Ou Zhishuo, Piotr Dittwald, Tadeusz Majewski, K. Naga Mohan, Bo Chen, Richard E. Person, Dick Tibboel, Annelies de Klein, Jason Pinner, Maya Chopra, Girvan Malcolm, Gregory Peters, Susan Arbuckle, Sixto F. Guiang, III, Virginia A. Hustead, Jose Jessurun, Russel Hirsch, David P. Witte, Isabelle Maystadt, Neil Sebire, Richard Fisher, Claire Langston, Partha Sen, Paweł Stankiewicz

Genome Res. 2013 Jan; 23(1): 23–33. doi: 10.1101/gr.141887.112