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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 2
2000 1
2001 2
2002 3
2003 7
2004 1
2005 7
2006 7
2007 9
2008 7
2009 2
2010 5
2011 7
2012 6
2013 8
2014 8
2015 5
2016 5
2017 2
2018 8
2019 5
2020 6
2021 7
2022 10
2023 5
2024 1

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118 results

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Page 1
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Among authors: rauen ka. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: rauen ka. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
de Blank PMK, Gross AM, Akshintala S, Blakeley JO, Bollag G, Cannon A, Dombi E, Fangusaro J, Gelb BD, Hargrave D, Kim A, Klesse LJ, Loh M, Martin S, Moertel C, Packer R, Payne JM, Rauen KA, Rios JJ, Robison N, Schorry EK, Shannon K, Stevenson DA, Stieglitz E, Ullrich NJ, Walsh KS, Weiss BD, Wolters PL, Yohay K, Yohe ME, Widemann BC, Fisher MJ. de Blank PMK, et al. Among authors: rauen ka. Neuro Oncol. 2022 Nov 2;24(11):1845-1856. doi: 10.1093/neuonc/noac165. Neuro Oncol. 2022. PMID: 35788692 Free PMC article. Review.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM; ClinGen RASopathy Working Group. Gelb BD, et al. Among authors: rauen ka. Genet Med. 2018 Nov;20(11):1334-1345. doi: 10.1038/gim.2018.3. Epub 2018 Mar 1. Genet Med. 2018. PMID: 29493581 Free PMC article.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: rauen ka. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Defining RASopathy.
Rauen KA. Rauen KA. Dis Model Mech. 2022 Feb 1;15(2):dmm049344. doi: 10.1242/dmm.049344. Epub 2022 Feb 1. Dis Model Mech. 2022. PMID: 35103797 Free PMC article.
Cardiofaciocutaneous Syndrome.
Rauen KA. Rauen KA. 2007 Jan 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Jan 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301365 Free Books & Documents. Review.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Among authors: rauen ka. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
RASopathies: unraveling mechanisms with animal models.
Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. Jindal GA, et al. Among authors: rauen ka. Dis Model Mech. 2015 Aug 1;8(8):769-82. doi: 10.1242/dmm.020339. Dis Model Mech. 2015. PMID: 26203125 Free PMC article. Review.
118 results