• 3904 Citations
  • 32 h-Index
1981 …2019
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Fingerprint Dive into the research topics where Katherine A Rauen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Costello Syndrome Medicine & Life Sciences
Mitogen-Activated Protein Kinases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Skin Abnormalities Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 1981 2007

GENERAL CLINICAL RESEARCH CENTER

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

12/1/813/31/07

Project: Research project

Nasal Lavage
Cystic Fibrosis
Lactoferrin
Muramidase
Anti-Bacterial Agents

Research Output 1992 2019

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 journalArticle

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 journalArticle

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 journalLetter

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 journalArticle

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 journalArticle

Molecular Pathology
Medical Genetics
Genes
Genome
Information Dissemination