Browse by CSHL Author

Girirajan, S., Mendoza-Londono, R., Vlangos, C. N., Dupuis, L., Nowak, N. J., Bunyan, D. J., Hatchwell, E., Elsea, S. H. (May 2007) Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). American Journal of Medical Genetics Part A, 143A (9). pp. 999-1008. ISSN 1552-4825

Tegay, D. H., Lane, A. H., Roohi, J., Hatchwell, E. (March 2007) Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. American Journal of Medical Genetics Part A, 143A (6). pp. 594-598. ISSN 1552-4825

Herbert, M. R., Russo, J. P., Yang, S., Roohi, Jasmin, Blaxill, M., Kahler, S. G., Cremer, L., Hatchwell, Eli (2006) Autism and environmental genomics. NeuroToxicology, 27 (5). pp. 671-684. ISSN 0161813X

Khulan, B., Thompson, R. F., Ye, K., Fazzari, M. J., Suzuki, M., Stasiek, E., Figueroa, M. E., Glass, J. L., Chen, Q., Montagna, C., Hatchwell, E., Selzer, R. R., Richmond, T. A., Green, R. D., Melnick, A., Greally, J. M. (2006) Comparative isoschizomer profiling of cytosine methylation: The HELP assay. Genome Research, 16 (8). pp. 1046-1055. ISSN 10889051

Harada, N., Hatchwell, E., Okamoto, N., Tsukahara, M., Kurosawa, K., Kawame, H., Kondoh, T., Ohashi, H., Tsukino, R., Kondoh, Y., Shimokawa, O., Ida, T., Nagai, T., Fukushima, Y., Yoshiura, K., Niikawa, N., Matsumoto, N. (February 2004) Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. Journal of Medical Genetics, 41 (2). pp. 130-136. ISSN 1468-6244

He, H., Roschke, A., Yonescu, R., Hatchwell, E., Ried, T., Kirsch, I. (November 2003) Genome-wide analysis of genetic alterations in tumor cell lines by Ccap BAC microarray. American Journal of Human Genetics, 73 (5). p. 254. ISSN 0002-9297

Hatchwell, E., Tommerup, N., Kristoffersson, U., Stanyon, R., Kantarci, S. (November 2003) Joubert syndrome: a patient with a de novo t(2;22)(q13;q11.1). American Journal of Human Genetics, 73 (5). p. 566. ISSN 0002-9297