Katherine A Rauen

Farmer, D. L., Emery, H., Malloy, M., Ablin, A., Wara, W. M., Holliday, M. A., Grumbach, M., Ammann, A., Mathias, R., Kogan, B., Elder, M. E., Desantes, K., Baekkeskov, S., Styles, L., Shannon, K., Flori, H., Erlich, H., Lubin, B. H., Folkman, S., Gregory, G., Siegel, B. S., Reed, W., Albanese, C., Treadwell, M., Von Scheven, E., Teitel, D., Rosenthal, P., Harmatz, P., Baskin, L., Cowan, M., Rosenthal, S., Miaskowski, C., Miller, W., Clyman, R., Dorenbaum, A., Boyce, W. T., Fitzgerald, P., Moscicki, A. N., Harrison, M., Packman, S., Bolinger, A. N. N., Barkovich, A. J., Zlotnick, C., Kaplan, S., Dorenbaum, A., Singer, S., Franck, L., Styles, L., Boyce, W. T., Fitzgerald, P., Morris, C., Moscicki, A. N., Fineman, J., Lubin, B. H., Mathias, R., Elder, M. E., Desantes, K., Phibbs, R., Shannon, K., Flori, H., Prados, M., Butensky, E., Newman, T., Boushey, H., Hawgood, S., Miller, S., Singer, T., Portale, A., Slavotinek, A. M., Vichinsky, E., Treadwell, M., Banerjee, A., Von Scheven, E., Packman, S., Barkovich, A. J., Ashutosh, L., Wara, D. W., Harmatz, P., Mignon Lee-Cheun, L., Gitelman, S., Granoff, D. M., Masharani, U., Baskin, L., Lustig, R., Karl, T. O. M., Morris, C., Noble, J., Moscicki, A. N., Hanmin, L., Cowan, M., Sherr, E., Matthay, K. K., Flori, H., Petru, A. N. N., Rauen, K. A., Clyman, R., Heyman, M. B., Harrison, M., Block, G., Gregory, G., Teitel, D., Singer, S., Conrad, S., Fung, E., Rosenthal, P., Hamrick, S., Mansour, K., Fitzgerald, P., Fineman, J., Glenn, O., McSherry, E., Morris, R. C., Liebman, W., Krenans, J., Ferreiro, D., Morriss, R. C., Obedzinski, J., Conte, J., Grunbach, M., Perman, J., Barkovich, J., Schmid, R., Martin, J., Blossom, H. J., Feusner, J., Staprans, S., Newman, V., Tureen, J., Shiramizu, B. T., Koerper, M., Boyce, T., Russo, C., Cropp, G., Adler, A., Hardy, C., Von Schev, E., Kessler, D., Debas, H., Williams-Herman, D., Feusner, J., Azimi, P. H., Loeffler, A. N. N., Snyder, J., Staprans, S., Tureen, J., Shiramizu, B. T., Koerper, M., Russo, C., Cropp, G., Roy-Burman, A., Tureen, J., Greene, D., Criswell, L., Sehnert, A., Engler, M. M., Garber, A., Vaisse, C., Weiss, W., Mukherjea, R., Goldfine, I. D., Krauss, R., Rule, R., McQuillen, P. S., Bhatia, S., Wiener-Kronish, J., King, J., Patel, H., Loeffler, A. N. N., Strober, J., Styne, D. M., Widdicombe, J., Kitterman, J. A., Moscicki, B., Wong, C., Sniderman, S., Kohl, S., Nolte, M., Packman, S., Barkovich, A. J., Bolinger, A. N. N., Kaplan, S. L., Franck, L., Phibbs, R., Sola, A., Conte, F., Parer, J., Fineman, J., Snyder, J., Lucas, A., Vichinsky, E., Wara, D. W., Petru, A. N. N., Heyman, M. B., Gitelman, S., Matthay, K. & Rauen, K. A.

National Institutes of Health

12/1/81 → 3/31/07

Project: Research project

Nasal Lavage

Cystic Fibrosis

Lactoferrin

Muramidase

Anti-Bacterial Agents

Research Output 1992 2019

3904 Citations
32 h-Index
76 Article
10 Review article
8 Letter
3 Chapter
1 More
- 1 Comment/debate

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp, K. W., Morse, L. A., Axelrad, M., Chatfield, K. C., Chidekel, A., Dobyns, W., Doyle, D., Kerr, B., Lin, A. E., Schwartz, D. D., Sibbles, B. J., Siegel, D., Shankar, S., Stevenson, D. A., Thacker, M. M., Weaver, K. N., White, S. M. & Rauen, K. A., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journal › Article

Costello Syndrome

Genotype

Guidelines

Phenotype

Medical Practice Management

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

Rauen, K. A., Alsaegh, A., Ben-Shachar, S., Berman, Y., Blakeley, J., Cordeiro, I., Elgersma, Y., Evans, D. G., Fisher, M. J., Frayling, I. M., George, J., Huson, S. M., Kerr, B., Khire, U., Korf, B., Legius, E., Messiaen, L., van Minkelen, R., Nampoothiri, S., Ngeow, J. & 15 others, Parada, L. F., Phadke, S., Pillai, A., Plotkin, S. R., Puri, R., Raji, A., Ramesh, V., Ratner, N., Shankar, S., Sharda, S., Tambe, A., Vikkula, M., Widemann, B. C., Wolkenstein, P. & Upadhyaya, M., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journal › Article

Neurofibromatoses

LEOPARD Syndrome

Neurofibromatosis 1

India

Costello Syndrome

2 Citations (Scopus)

Age and ASD symptoms in Costello syndrome

Young, O., Perati, S., Weiss, L. A. & Rauen, K. A., Apr 1 2018, In : American Journal of Medical Genetics, Part A. 176, 4, p. 1027-1028 2 p.

Research output: Contribution to journal › Letter

Costello Syndrome

8 Citations (Scopus)

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Grant, A. R., Cushman, B. J., Cavé, H., Dillon, M. W., Gelb, B. D., Gripp, K. W., Lee, J. A., Mason-Suares, H., Rauen, K. A., Tartaglia, M., Vincent, L. M. & Zenker, M., Nov 1 2018, In : Human Mutation. 39, 11, p. 1485-1493 9 p.

Research output: Contribution to journal › Article

Genes

Costello Syndrome

LEOPARD Syndrome

Noonan Syndrome

Research Personnel

29 Citations (Scopus)

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

for the ClinGen RASopathy Working Group, Nov 1 2018, In : Genetics in Medicine. 20, 11, p. 1334-1345 12 p.

Research output: Contribution to journal › Article

Molecular Pathology

Medical Genetics

Genes

Genome

Information Dissemination