Projects per year
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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 1981 2007
Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
Project: Research project
The Role of Germline Mutations in the Ras/MAPK Pathway on Skeletal Myogenesis
Project: Research project
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.
12/1/81 → 3/31/07
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 others, 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
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 journal › Letter
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 journal › Article
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 journal › Article
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 others, Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.Research output: Contribution to journal › Article
Gene Deletion
Medicine
Phenotype