Channel: University of Iowa

This collection includes bioRxiv and medRxiv papers from authors at University of Iowa.

1252 Articles

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

DiStefano, M. T., Hemphill, S. E., Oza, A. M., Siegert, R. K., Gant, A. R., Hughes, M. Y., Cushman, B. J., Azaiez, H., Booth, K. T., Chapin, A., Duzkale, H., Matsunaga, T., Shen, J., Zhang, W., Kenna, M., Schimmenti, L., Tekin, M., Rehm, H. L., Abou Tayoun, A. N., Amr, S. S., ClinGen Hearing Loss Clinical Domain Working Group

10.1101/534040 — Posted: 2019-01-29

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium, , Lee, J.-M., Correia, K., Loupe, J., Kim, K.-H., Barker, D., Hong, E. P., Chao, M. J., Long, J. D., Lucente, D., Vonsattel, J.-P., Mouro Pinto, R., Abu Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., Wheeler, V. C., MacDonald, M. E., Gusella, J. F., Massey, T., McAllister, B., Medway, C., Stone, T. C., Hall, L., Jones, L., Holmans, P., Kwak, S., Ehrhardt, A., Sampaio, C., Ciosi, M., Maxwell, A., Chatzi, A., Monckton, D. G., Orth, M., Landwehrmeyer, G. B., Paulsen, J. S., Dorsey, E. R., Shoulson, I., Myers, R. H.

10.1101/529768 — Posted: 2019-01-24

Distinctions among electroconvulsion- and proconvulsant-induced seizure discharges and native motor patterns during flight and grooming: Quantitative spike pattern analysis in Drosophila flight muscles

Lee, J., Iyengar, A., Wu, C.-F.

10.1101/481234 — Posted: 2019-01-22

Nascent transcript analysis of glucocorticoid crosstalk with TNF defines primary and cooperative inflammatory repression

Sasse, S. K., Gruca, M., Allen, M. A., Kadiyala, V., Song, T., Gally, F., Gupta, A., Pufall, M. A., Dowell, R. D., Gerber, A. N.

10.1101/524975 — Posted: 2019-01-18

Validating indicators of CNS disorders in a swine model of neurological disease

Swier, V. J., White, K., Meyerholz, D. K., Chefdeville, A., Khanna, R., Sieren, J. C., Quelle, D. E., Weimer, J. M.

10.1101/514398 — Posted: 2019-01-09

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D., Sabo, A., The SPARK Consortium, , Gibbs, R., Eichler, E., O'Roak, B., Michaelson, J., Volfovsky, N., Shen, Y., Chung, W.

10.1101/516625 — Posted: 2019-01-09

Lineage specific histories of Mycobacterium tuberculosis dispersal in Africa and Eurasia

O'Neill, M. B., Shockey, A. C., Zarley, A., Aylward, W., Eldholm, V., Kitchen, A., Pepperell, C. S.

10.1101/210161 — Posted: 2018-12-31

Episodic evolution of a eukaryotic NADK repertoire of ancient provenance

Vickman, O., Erives, A. J.

10.1101/507913 — Posted: 2018-12-31

Sex-dependent differences in pain and sleep in a porcine model of Neurofibromatosis type 1

Khanna, R., Moutal, A., White, K., Chefdeville, A., Negrao de Assis, P., Cai, S., Swier, V. J., Bellampalli, S. S., Giunta, M. D., Darbro, B. W., Quelle, D. E., Sieren, J. C., Wallace, M. R., Rogers, C. S., Meyerholz, D. K., Weimer, J. M.

10.1101/495358 — Posted: 2018-12-20

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Cox, A. J., Grady, F., Velez, G., Mahajan, V. B., Ferguson, P. J., Kitchen, A., Darbro, B. W., Bassuk, A. G.

10.1101/496133 — Posted: 2018-12-13

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