Browse by CSHL Author

Paper

Dorfel, M. J., Fang, H., Crain, J., Klingener, M., Weiser, J., Lyon, G. J. (January 2017) Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast, 34 (1). pp. 19-37. ISSN 1097-0061 (Electronic)0749-503X (Linking)

O’Rawe, Jason A, Wu, Yiyang, Dörfel, Max J, Rope, Alan F, Au, P. Y.  Billie, Parboosingh, Jillian S, Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S, Tzetis, Maria, Schuette, Jane L, Hufnagel, Robert B, Prada, Carlos E, Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T, Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G, Wang, Kai, Davis, Erica E, Katsanis, Nicholas, Kalscheuer, Vera M, Wang, Edith H, Metcalfe, Kay, Kleefstra, Tjitske, Innes, A.  Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E, Lyon, Gholson J (December 2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics, 97 (6). pp. 922-932. ISSN 0002-9297

Doerfel, Max, Lyon, Gholson J. (August 2015) The biological functions of Naa10 – from amino-terminal acetylation to human disease. Gene, 567 (2). pp. 103-131. ISSN 0378-1119

Myklebust, L. M., Van Damme, P., Stove, S. I., Dorfel, M. J., Abboud, A., Kalvik, T. V., Grauffel, C., Jonckheere, V., Wu, Y., Swensen, J., Kaasa, H., Liszczak, G., Marmorstein, R., Reuter, N., Lyon, G. J., Gevaert, K., Arnesen, T. (December 2014) Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics, 24 (7). pp. 1956-1976. ISSN 0964-6906

Conference or Workshop Item

Doerfel, Max, Lyon, Gholson J. (October 2014) Molecular and cellular effects of the Ogden syndrome S37P mutation on the function of the N-terminal acetyltransferase Naa10. In: 64th Annual Meeting of the American Society of Human Genetics (ASHG), October 2014, San Diego, California. (Unpublished)

Other

Lyon, Gholson J., Doerfel, Max, O'Rawe, Jason, Fang, Han, Jimenez Barron, Laura (2014) Human Genetics and Genomic Medicine. Cold Spring Harbor Laboratory.

Lyon, Gholson J., Doerfel, Max, O'Rawe, Jason, Wu, Yiyang, Fang, Han, Kota, Prashant, Jimenez Barron, Laura (2013) Human Genetics and Genomic Medicine. Cold Spring Harbor Laboratory.

Lyon, Gholson J., Doerfel, Max, O'Rawe, Jason, Wu, Yiyang, Kota, Prashant (2012) Human Genetics and Genomic Medicine. Cold Spring Harbor Laboratory.