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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
By:
- Ballif, Blake C.;
- Hornor, Sara A.;
- Jenkins, Elizabeth;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Jackson, Kelly E.;
- Asamoah, Alexander;
- Brock, Pamela L.;
- Gowans, Gordon C.;
- Conway, Robert L.;
- Graham Jr., John M.;
- Medne, Livija;
- Zackai, Elaine H.;
- Shaikh, Tamim H.;
- Geoghegan, Joel;
- Selzer, Rebecca R.;
- Eis, Peggy S.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.
Publication type:
Article
Corrigendum: Multiple-laboratory comparison of microarray platforms.
Published in:
2005
By:
- Irizarry, Rafael A.;
- Warren, Daniel;
- Spencer, Forrest;
- Kim, Irene F.;
- Biswal, Shyam;
- Frank, Bryan C.;
- Gabrielson, Edward;
- Garcia, Joe G. N.;
- Geoghegan, Joel;
- Germino, Gregory;
- Griffin, Constance;
- Hilmer, Sara C.;
- Hoffman, Eric;
- Jedlicka, Anne E.;
- Kawasaki, Ernest;
- Martínez-Murillo, Francisco;
- Morsberger, Laura;
- Lee, Hannah;
- Petersen, David;
- Quackenbush, John
Publication type:
Correction Notice
Multiple-laboratory comparison of microarray platforms.
Published in:
Nature Methods, 2005, v. 2, n. 5, p. 345, doi. 10.1038/nmeth756
By:
- Irizarry, Rafael A.;
- Warren, Daniel;
- Spencer, Forrest;
- Kim, Irene F.;
- Biswal, Shyam;
- Frank, Bryan C.;
- Gabrielson, Edward;
- Garcia, Joe G. N.;
- Geoghegan, Joel;
- Germino, Gregory;
- Griffin, Constance;
- Hilmer, Sara C.;
- Hoffman, Eric;
- Jedlicka, Anne E.;
- Kawasaki, Ernest;
- Martínez-Murillo, Francisco;
- Morsberger, Laura;
- Lee, Hannah;
- Petersen, David;
- Quackenbush, John
Publication type:
Article
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
Published in:
Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa071
By:
- Sousa, Sunita M C De;
- Toubia, John;
- Hardy, Tristan S E;
- Feng, Jinghua;
- Wang, Paul;
- Schreiber, Andreas W;
- Geoghegan, Joel;
- Hall, Rachel;
- Rawlings, Lesley;
- Buckland, Michael;
- Luxford, Catherine;
- Novos, Talia;
- Clifton-Bligh, Roderick J;
- Poplawski, Nicola K;
- Scott, Hamish S;
- Torpy, David J
Publication type:
Article
Metastatic squamous cell carcinoma cells that overexpress c-Met exhibit enhanced angiogenesis factor expression, scattering and metastasis in response to hepatocyte growth factor.
Published in:
Oncogene, 2004, v. 23, n. 37, p. 6199, doi. 10.1038/sj.onc.1207851
By:
- Dong, Gang;
- Lee, Tin Lap;
- Yeh, Ning T.;
- Geoghegan, Joel;
- Waes, Carter Van;
- Chen, Zhong
Publication type:
Article
Three microarray platforms: an analysis of their concordance in profiling gene expression.
Published in:
BMC Genomics, 2005, v. 6, p. 63, doi. 10.1186/1471-2164-6-63
By:
- Petersen, David;
- Chandramouli, GVR;
- Geoghegan, Joel;
- Hilburn, Joanne;
- Paarlberg, Jonathon;
- Chang Hee Kim;
- Munroe, David;
- Gangi, Lisa;
- Han, Jing;
- Puri, Raj;
- Staudt, Lou;
- Weinstein, John;
- Barrett, J Carl;
- Green, Jeffrey;
- Kawasaki, Ernest S
Publication type:
Article
The global transcriptomic signature in sinonasal tissues reveals roles for tissue type and chronic rhinosinusitis disease phenotype.
Published in:
Rhinology, 2020, v. 58, n. 3, p. 273, doi. 10.4193/Rhin19.403
By:
- Bassiouni, Ahmed;
- Judy Ou;
- Schreiber, Andreas;
- Geoghegan, Joel;
- Tsykin, Anna;
- Psaltis, Alkis J.;
- Wormald, Peter-John;
- Vreugde, Sarah
Publication type:
Article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Published in:
2016
By:
- Ricos, Michael G.;
- Hodgson, Bree L.;
- Pippucci, Tommaso;
- Saidin, Akzam;
- Ong, Yeh Sze;
- Heron, Sarah E.;
- Licchetta, Laura;
- Bisulli, Francesca;
- Bayly, Marta A.;
- Hughes, James;
- Baldassari, Sara;
- Palombo, Flavia;
- Santucci, Margherita;
- Meletti, Stefano;
- Berkovic, Samuel F.;
- Rubboli, Guido;
- Thomas, Paul Q.;
- Scheffer, Ingrid E.;
- Tinuper, Paolo;
- Geoghegan, Joel
Publication type:
journal article
Towards Routine Implementation of Liquid Biopsies in Cancer Management: It Is Always Too Early, until Suddenly It Is Too Late.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 103, doi. 10.3390/diagnostics11010103
By:
- IJzerman, Maarten J.;
- de Boer, Jasper;
- Azad, Arun;
- Degeling, Koen;
- Geoghegan, Joel;
- Hewitt, Chelsee;
- Hollande, Frédéric;
- Lee, Belinda;
- To, Yat Ho;
- Tothill, Richard W.;
- Wright, Gavin;
- Tie, Jeanne;
- Dawson, Sarah-Jane
Publication type:
Article
HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.
Published in:
PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005620
By:
- Lim, Shu Ly;
- Qu, Zhi Peng;
- Kortschak, R. Daniel;
- Lawrence, David M.;
- Geoghegan, Joel;
- Hempfling, Anna-Lena;
- Bergmann, Martin;
- Goodnow, Christopher C.;
- Ormandy, Christopher J.;
- Wong, Lee;
- Mann, Jeff;
- Scott, Hamish S.;
- Jamsai, Duangporn;
- Adelson, David L.;
- O’Bryan, Moira K.
Publication type:
Article
Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1439, doi. 10.1002/humu.22387
By:
- Ligt, Joep;
- Boone, Philip M.;
- Pfundt, Rolph;
- Vissers, Lisenka E.L.M.;
- Richmond, Todd;
- Geoghegan, Joel;
- O'Moore, Kathleen;
- Leeuw, Nicole;
- Shaw, Christine;
- Brunner, Han G.;
- Lupski, James R.;
- Veltman, Joris A.;
- Hehir‐Kwa, Jayne Y.
Publication type:
Article
Correction: HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.
Published in:
2015
By:
- Lim, Shu Ly;
- Qu, Zhi Peng;
- Kortschak, R. Daniel;
- Lawrence, David M.;
- Geoghegan, Joel;
- Hempfling, Anna-Lena;
- Bergmann, Martin;
- Goodnow, Christopher C.;
- Ormandy, Christopher J.;
- Wong, Lee;
- Mann, Jeff;
- Scott, Hamish S.;
- Jamsai, Duangporn;
- Adelson, David L.;
- O’Bryan, Moira K.
Publication type:
Correction Notice

Found: 12