The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
Tidyman, William E, Rauen, Katherine A
Published in Current opinion in genetics & development (01.06.2009)
Published in Current opinion in genetics & development (01.06.2009)
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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
Gelb, Bruce D, Cavé, Hélène, Dillon, Mitchell W, Gripp, Karen W, Lee, Jennifer A, Mason-Suares, Heather, Rauen, Katherine A, Williams, Bradley, Zenker, Martin, Vincent, Lisa M
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines
Pierpont, Mary Ella M, Magoulas, Pilar L, Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I, Reinker, Kent, Roberts, Amy E, Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A
Published in Pediatrics (Evanston) (01.10.2014)
Published in Pediatrics (Evanston) (01.10.2014)
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Translating multiscale research in rare disease
Hooper, Kirsty M., Justice, Monica J., Lek, Monkol, Liu, Karen J., Rauen, Katherine A.
Published in Disease models & mechanisms (01.06.2024)
Published in Disease models & mechanisms (01.06.2024)
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Journal Article
Germline Mutations in Genes within the MAPK Pathway Cause Cardio-Facio-Cutaneous Syndrome
Rodriguez-Viciana, Pablo, Tetsu, Osamu, Tidyman, William E., Estep, Anne L., Conger, Brenda A., Cruz, Molly Santa, McCormick, Frank, Rauen, Katherine A.
Published in Science (American Association for the Advancement of Science) (03.03.2006)
Published in Science (American Association for the Advancement of Science) (03.03.2006)
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Journal Article
Dysregulation of astrocyte extracellular signaling in Costello syndrome
Krencik, Robert, Hokanson, Kenton C, Narayan, Aditi R, Dvornik, Jill, Rooney, Gemma E, Rauen, Katherine A, Weiss, Lauren A, Rowitch, David H, Ullian, Erik M
Published in Science translational medicine (06.05.2015)
Published in Science translational medicine (06.05.2015)
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders
Mitra, Ileena, Lavillaureix, Alinoë, Yeh, Erika, Traglia, Michela, Tsang, Kathryn, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A
Published in PLoS genetics (11.01.2017)
Published in PLoS genetics (11.01.2017)
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Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs
Cuevas-Navarro, Antonio, Rodriguez-Muñoz, Laura, Grego-Bessa, Joaquim, Cheng, Alice, Rauen, Katherine A, Urisman, Anatoly, McCormick, Frank, Jimenez, Gerardo, Castel, Pau
Published in eLife (25.04.2022)
Published in eLife (25.04.2022)
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Journal Article
RASopathies: unraveling mechanisms with animal models
Jindal, Granton A, Goyal, Yogesh, Burdine, Rebecca D, Rauen, Katherine A, Shvartsman, Stanislav Y
Published in Disease models & mechanisms (01.08.2015)
Published in Disease models & mechanisms (01.08.2015)
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Journal Article
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
Tidyman, William E, Rauen, Katherine A
Published in Expert reviews in molecular medicine (01.12.2008)
Published in Expert reviews in molecular medicine (01.12.2008)
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Journal Article
Advocacy groups as research organizations: the PXE International example
Terry, Sharon F, Terry, Patrick F, Rauen, Katherine A, Uitto, Jouni, Bercovitch, Lionel G
Published in Nature reviews. Genetics (01.02.2007)
Published in Nature reviews. Genetics (01.02.2007)
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Journal Article
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy
Estep, Anne L, Palmer, Chana, McCormick, Frank, Rauen, Katherine A
Published in PloS one (05.12.2007)
Published in PloS one (05.12.2007)
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Journal Article
Neurological complications of cardio‐facio‐cutaneous syndrome
Yoon, Grace, Rosenberg, Jodine, Blaser, Susan, Rauen, Katherine A
Published in Developmental medicine and child neurology (01.12.2007)
Published in Developmental medicine and child neurology (01.12.2007)
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