Recent
Publications
Pyatt, R.E., Astbury, C. (2011) Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization. Clin Lab Med. 31(4):565-80.
Talkowski, M.E., Mullegama, S.V., Rosenfeld, J.A., van Bon, B.W., Shen, Y., Repnikova, E.A., Gastier-Foster, J., Thrush, D.L., Kathiresan, S., Ruderfer, D.M., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A.M., Morton, C.C., An, Y., Astbury, C., Brueton, L.A., Lichtenbelt, K.D., Ades, L.C., Fichera, M., Romano, C., Innis, J.W., Williams, C.A., Bartholomew, D., Van Allen, M.I., Parikh, A., Zhang, L., Wu, B.L., Pyatt, R.E., Schwartz, S., Shaffer, L.G., de Vries, B.B., Gusella, J.F., Elsea, S.H. (2011) Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 89(4):551-63. PMCID: PMC3188839
Kalman, L., Leonard, J., Gerry, N., Tarleton, J., Bridges, C., Gastier-Foster, J.M., Pyatt, R.E., Stonerock, E., Johnson, M.A., Richards, C.S., Schrijver, I., Ma, T., Miller, V.R., Adadevoh, Y., Furlong, P., Beiswanger, C., Toji, L. (2011) Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel. J Mol Diagn. 13(2):167-74.
Ballif, B.C., Theisen, A., Rosenfeld, J.A., Traylor, R.N., Gastier-Foster, J., Thrush, D.L., Astbury, C., Bartholomew, D., McBride, K.L., Pyatt, R.E., Shane, K., Smith, W.E., Banks, V., Gallentine, W.B., Brock, P., Rudd, M.K., Adam, M.P., Keene, J.A., Phillips, J.A. 3rd, Pfotenhauer, J.P., Gowans, G.C., Stankiewicz, P., Bejjani, B.A., Shaffer, L.G. (2010) Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 86(3):454-61.
Pyatt,
R.E.,
Rosser, T., Powell, K. (2009) Undergraduates as Science Museum
Docents. Training students to be the teachers
using Peer Led Team Learning. The American Biology
Teacher.
71(1):16-19.
Pyatt, R.E.,
Mihal, D.C., Prior, T.W.
(2007) Assessment of liquid microbead arrays for the screening
of newborns for spinal muscular atrophy. Clin Chem. 53(11):1879-85.
Pyatt, R.E., Prior, T.W. (2006) A feasibility
study for the newborn screening of spinal muscular atrophy. Genet
Med. 8(7):428-37.
Pyatt, R.E., Pilarski, R. and Prior, T.W. (2006)
Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 8(1):84-8.
Holtzclaw,
J.D., Pyatt, R., Giver, C.R., Eaton,
D., Haynes, J.K., Gunn, R.B. and Eisen, A. (2005) FIRST: A Model
for Developing New Science Faculty. Journal of College Science
Teaching, 34:24-29.
Kerstann, K.F., Feingold, E., Freeman, S.B., Bean, L.J., Pyatt,
R., Tinker, S., Jewel, A.H., Capone, G., Sherman, S.L.
(2004) Linkage disequilibrium mapping in trisomic populations:
analytical approaches and an application to congenital heart defects
in Down syndrome. Genet Epidemiol. 27(3):240-51.
Pyatt, R.E.,
Nakagawa, H., Hampel, H., Sedra, M., Fuchik, M.B., Comeras, I.,
de la Chapelle, A., Prior, T.W. (2003) Identification of a deletion
in the mismatch repair gene, MSH2, using mouse-human cell hybrids
monosomal for chromosome 2. Clin Genet. 63(3):215-8.
Chadwick, R.B., Pyatt,
R.E., Niemann, T.H., Richards, S.K., Johnson, C.K., Stevens,
M.W., Meek, J.E., Hampel, H., Prior, T.W., de la Chapelle, A.
(2001) Hereditary and somatic DNA mismatch repair gene mutations
in sporadic endometrial carcinoma. J Med Genet. 38(7):461-6. |
|