• 3765 Citations
  • 31 h-Index
1981 …2019
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

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

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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

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 othersParada, 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
1 Citation (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
3 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
19 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

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 othersGreenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Gene Deletion
Medicine
Phenotype