Katherine A Rauen (K A Rauen)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 21

Top Venues

American journal of medical genetics. Part A

Disease models & mechanisms

Journal of the European Academy of Dermatology and Venereology : JEADV

Developmental dynamics : an official publication of the American Association of Anatomists

This page only lists publications with an associated author ORCID identifier.

Publications

Katherine A Rauen, William E Tidyman
RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (2024)
Katherine A Rauen, William E Tidyman
RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development. Disease models & mechanisms 17 (6) (2024)
Katherine A Rauen, William E Tidyman
RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development. Disease models & mechanisms 17 (6) (2024)
Dorothy K Grange, Daniel J Wegner, Jennifer A Wambach, Kathleen A Sisco, Stephen I Stone, Jonathan H Sheehan, Keri M Ramsey, Vinodh Narayanan, Katherine A Rauen, F Sessions Cole, null null
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy. American journal of medical genetics. Part A (2024)
Katherine A Rauen, William E Tidyman
RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development. Disease models & mechanisms 17 (6) (2024)
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C Borrie, Benjamin Briggs, Emma Burkitt-Wright, Pau Castel, Ion C Cirstea, Fieke Draaisma, Michelle Ellis, Vanessa S Fear, Megan N Frone, Elisabetta Flex, Bruce D Gelb, Tamar Green, Karen W Gripp, Sattar Khoshkhoo, Mark W Kieran, Karolin Kleemann, Bonita P Klein-Tasman, Maria I Kontaridis, Paul S Kruszka, Chiara Leoni, Clifford Z Liu, Nadia Merchant, Pilar L Magoulas, Christopher Moertel, Carlos E Prada, Katherine A Rauen, Renée Roelofs, Rodrigue Rossignol, Christine Sevilla, Gigi Sevilla, Ryan Sheedy, Elliot Stieglitz, Daochun Sun, Dagmar Tiemens, Forest White, Ellen Wingbermühle, Cordula Wolf, Martin Zenker, Gregor Andelfinger
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. American journal of medical genetics. Part A (2023)
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana Gordon, Tamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Tartaglia Marco, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. American journal of medical genetics. Part A 188 (6) (2022)
Angie C Jelin, Amanda Mahle, Susan H Tran, Teresa N Sparks, Katherine A Rauen
Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation. American journal of medical genetics. Part A (2022)
Katherine A Rauen
Defining RASopathy. Disease models & mechanisms 15 (2) (2022)
William E Tidyman, Alice F Goodwin, Yoshiko Maeda, Ophir D Klein, Katherine A Rauen
MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model. Disease models & mechanisms 15 (2) (2021)
Yoshiko Maeda, William E Tidyman, Bradley P Ander, Catrin A Pritchard, Katherine A Rauen
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. Developmental dynamics : an official publication of the American Association of Anatomists 250 (8) (2021)
Marwan M Ali, Amy E Gilliam, Beth S Ruben, William E Tidyman, Katherine A Rauen
Juvenile xanthogranuloma in Noonan syndrome. American journal of medical genetics. Part A 185 (10) (2021)
J Urban, Lihong Qi, H Zhao, Iryna Rybak, Katherine A Rauen, Maija Kiuru
Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (3) (2020)
Katherine A Rauen, Yoshiko Maeda, Alena Egense, William E Tidyman
Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature. American journal of medical genetics. Part A 185 (2) (2020)
Andrea M Gross, Megan Frone, Karen W Gripp, Bruce D Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Barbara B Biesecker, Dominic Esposito, Edjay Ralph Hernandez, Eric Legius, Mignon L Loh, Staci Martin, Deborah K Morrison, Katherine A Rauen, Pamela L Wolters, Dina Zand, Frank McCormick, Sharon A Savage, Douglas R Stewart, Brigitte C Widemann, Marielle E Yohe
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. American journal of medical genetics. Part A 182 (4) (2020)
Karen W Gripp, Lindsey A Morse, Marni Axelrad, Kathryn C Chatfield, Aaron Chidekel, William B Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E Lin, David D Schwartz, Barbara J Sibbles, Jack E Steiner, Suma P Shankar, David A Stevenson, Mihir M Thacker, K Nicole Weaver, Sue M White, Katherine A Rauen
Costello syndrome: Clinical phenotype, genotype, and management guidelines. American journal of medical genetics. Part A 179 (9) (2019)
Katherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, Yemima Berman, Jaishri Blakeley, Isabel Cordeiro, Ype Elgersma, D Gareth Evans, Michael J Fisher, Ian M Frayling, Joshi George, Susan M Huson, Bronwyn Kerr, Uday Khire, Bruce Korf, Eric Legius, Ludwine Messiaen, Rick van Minkelen, Sheela Nampoothiri, Joanne Ngeow, Luis F Parada, Shubha Rao Phadke, Ashok Pillai, Scott R Plotkin, Ratna Puri, Anup Raji, Vijaya Ramesh, Nancy Ratner, Suma P Shankar, Sheetal Sharda, Anant Tambe, Miikka Vikkula, Brigitte C Widemann, Pierre Wolkenstein, Meena Upadhyaya
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. American journal of medical genetics. Part A 179 (6) (2019)
Karen W Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M Bennett, Susan Blaser, Amanda Brown, Rebecca Burdine, Emma Burkitt-Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D Gelb, Tamar Green, Andrea Gross, Alan Ho, James Lloyd Holder, Shin-Ichi Inoue, Angie C Jelin, Annie Kennedy, Richard Klein, Maria I Kontaridis, Pilar Magoulas, Darryl B McConnell, Frank McCormick, Benjamin G Neel, Carlos E Prada, Katherine A Rauen, Amy Roberts, Pablo Rodriguez-Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C Timmer, Kartik Venkatachalam, Karin S Walsh, Pamela L Wolters, Jae-Sung Yi, Martin Zenker, Nancy Ratner
The sixth international RASopathies symposium: Precision medicine-From promise to practice. American journal of medical genetics. Part A 182 (3) (2019)

Katherine A Rauen.css-eqlu8i{font-size:small;padding-left:4px;} (K A Rauen)

Publication Activity (10 Years)

Top Topics

Top Venues

Katherine A Rauen (K A Rauen)