Zebrafish: A Model Organism for Studying Enteric Nervous System Development and Disease

由 Kuil, Laura E., Chauhan, Rajendra K., Cheng, William W., Hofstra, Robert M. W., Alves, Maria M.
發表在 Front Cell Dev Biol (2021)

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants

由 Houlleberghs, Hellen, Dekker, Marleen, Lantermans, Hildo, Kleinendorst, Roos, Dubbink, Hendrikus Jan, Hofstra, Robert M. W., Verhoef, Senno, te Riele, Hein
發表在 Proc Natl Acad Sci U S A (2016)

C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging

由 van Ham, Tjakko J., Thijssen, Karen L., Breitling, Rainer, Hofstra, Robert M. W., Plasterk, Ronald H. A., Nollen, Ellen A. A.
出版 2008

Tumor Characteristics as an Analytic Tool for Classifying Genetic Variants of Uncertain Clinical Significance

由 Hofstra, Robert M.W., Spurdle, Amanda B., Eccles, Diana, Foulkes, William D., de Wind, Niels, Hoogerbrugge, Nicoline, Hogervorst, Frans B.L.
出版 2008

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

由 Alves, Maria M. M., Osinga, Jan, Verheij, Joke B. G. M., Metzger, Marco, Eggen, Bart J. L., Hofstra, Robert M. W.
出版 2010

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

由 Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella
出版 2009

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

由 van den Akker, Peter C., Pasmooij, Anna M. G., Joenje, Hans, Hofstra, Robert M. W., te Meerman, Gerard J., Jonkman, Marcel F.
發表在 PLoS One (2018)

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

由 Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda
出版 2000

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

由 Plaza-Menacho, Iván, Mologni, Luca, Sala, Elisa, Gambacorti-Passerini, Carlo, Magee, Anthony I., Links, Thera P., Hofstra, Robert M. W., Barford, David, Isacke, Clare M.
出版 2009

Locus-Specific Databases (LSDBs) and Recommendations to Strengthen Their Contribution to the Classification of Variants in Cancer Susceptibility Genes

由 Greenblatt, Marc S., Brody, Lawrence C., Foulkes, William D., Genuardi, Maurizio, Hofstra, Robert M.W., Olivier, Magali, Plon, Sharon E., Sijmons, Rolf H., Sinilnikova, Olga, Spurdle, Amanda B.
出版 2008

High Frequency of TP53 Mutations in Juvenile Pilocytic Astrocytomas Indicates Role of TP53 in the Development of These Tumors

由 Hayes, Vanessa M., Dirven, Clemens M.F., Dam, Anke, Verlind, Edwin, Molenaar, Willemina M., Mooij, Jan Jakob A., Hofstra, Robert M.W., Buys, Charles H.C.M.
發表在 Brain Pathol (2006)

Focal Adhesion Kinase (FAK) Binds RET Kinase via Its FERM Domain, Priming a Direct and Reciprocal RET-FAK Transactivation Mechanism

由 Plaza-Menacho, Iván, Morandi, Andrea, Mologni, Luca, Boender, Piet, Gambacorti-Passerini, Carlo, Magee, Anthony I., Hofstra, Robert M. W., Knowles, Phillip, McDonald, Neil Q., Isacke, Clare M.
出版 2011

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

由 van der Werf, Christine S., Hsiao, Nai-Hua, Conroy, Siobhan, Paredes, Joana, Ribeiro, Ana S., Sribudiani, Yunia, Seruca, Raquel, Hofstra, Robert M. W., Westers, Helga, van IJzendoorn, Sven C. D.
出版 2013

Screening for germline DND1 mutations in testicular cancer patients

由 Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.
出版 2010

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

由 Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J., Menko, Fred H., Mensenkamp, Arjen R., Spaander, Manon C. W., Wagner, Anja, Hofstra, Robert M. W., te Riele, Hein
發表在 PLoS Genet (2017)

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

由 Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Edwin H., Oussoren, Esmee, van der Ploeg, Ans T., Wagenmakers, Margreet A. E. M., Hofstra, Robert M. W., Blom, Henk J., Reinders, Marcel J. T., Ruijter, George J. G.
發表在 Metabolites (2020)

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

由 Wu, Ying, Berends, Maran J. W., Mensink, Rob G. J., Kempinga, Claudia, Sijmons, Rolf H., van der Zee, Ate G. J., Hollema, Harry, Kleibeuker, Jan H., Buys, Charles H. C. M., Hofstra, Robert M. W.
出版 1999

Identifying Candidate Hirschsprung Disease–Associated RET Variants

由 Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
出版 2005

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

由 Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
出版 2013

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

由 Alves, Maria M., Burzynski, Grzegorz, Delalande, Jean-Marie, Osinga, Jan, van der Goot, Annemieke, Dolga, Amalia M., de Graaff, Esther, Brooks, Alice S., Metzger, Marco, Eisel, Ulrich L.M., Shepherd, Iain, Eggen, Bart J.L., Hofstra, Robert M.W.
發表在 Hum Mol Genet (2010)