New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.

door Schnur, R E, Ledbetter, S A, Ledbetter, D H, Merry, D E, Nussbaum, R L
Gepubliceerd in 1989

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

door Schnur, R E, Trask, B J, van den Engh, G, Punnett, H H, Kistenmacher, M, Tomeo, M A, Naids, R E, Nussbaum, R L
Gepubliceerd in 1989

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

door Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J.
Gepubliceerd in 1994

Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities

door Das, S., Lese, C. M., Song, M., Jensen, J. L., Wells, L. A., Barnoski, B. L., Roseberry, J. A., Camacho, J. M., Ledbetter, D. H., Schnur, R. E.
Gepubliceerd in 2000

OA1 mutations and deletions in X-linked ocular albinism.

door Schnur, R E, Gao, M, Wick, P A, Keller, M, Benke, P J, Edwards, M J, Grix, A W, Hockey, A, Jung, J H, Kidd, K K, Kistenmacher, M, Levin, A V, Lewis, R A, Musarella, M A, Nowakowski, R W, Orlow, S J, Pagon, R S, Pillers, D A, Punnett, H H, Quinn, G E, Tezcan, K, Wagstaff, J, Weleber, R G
Gepubliceerd in 1998

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

door Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.
Gepubliceerd in 2011

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

door Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Gepubliceerd in Acta Neuropathol (2019)