Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma
Hintzsche, Jennifer D, Gorden, Nicholas T, Amato, Carol M, Kim, Jihye, Wuensch, Kelsey E, Robinson, Steven E, Applegate, Allison J, Couts, Kasey L, Medina, Theresa M, Wells, Keith R, Wisell, Joshua A, McCarter, Martin D, Box, Neil F, Shellman, Yiqun G, Gonzalez, Rene C, Lewis, Karl D, Tentler, John J, Tan, Aik Choon, Robinson, William A
Published in Melanoma research (01.06.2017)
Published in Melanoma research (01.06.2017)
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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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Pre-Treatment Mutational and Transcriptomic Landscape of Responding Metastatic Melanoma Patients to Anti-PD1 Immunotherapy
Amato, Carol M, Hintzsche, Jennifer D, Wells, Keith, Applegate, Allison, Gorden, Nicholas T, Vorwald, Victoria M, Tobin, Richard P, Nassar, Kelsey, Shellman, Yiqun G, Kim, Jihye, Medina, Theresa M, Rioth, Matthew, Lewis, Karl D, McCarter, Martin D, Gonzalez, Rene, Tan, Aik-Choon, Robinson, William A
Published in Cancers (17.07.2020)
Published in Cancers (17.07.2020)
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Reconstruction of the 3D structure of colloidosomes from a single SEM image
Salari, Joris W. O., Jemwa, Gorden T., Wyss, Hans M., Klumperman, Bert
Published in Soft matter (01.01.2011)
Published in Soft matter (01.01.2011)
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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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