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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Lionel AC, et al. Among authors: egger g. Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393157 Clinical Trial.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. Rafiq MA, et al. Among authors: egger g. BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0. BMC Med Genet. 2015. PMID: 26104215 Free PMC article.
JUN mediates the senescence associated secretory phenotype and immune cell recruitment to prevent prostate cancer progression.
Redmer T, Raigel M, Sternberg C, Ziegler R, Probst C, Lindner D, Aufinger A, Limberger T, Trachtova K, Kodajova P, Högler S, Schlederer M, Stoiber S, Oberhuber M, Bolis M, Neubauer HA, Miranda S, Tomberger M, Harbusch NS, Garces de Los Fayos Alonso I, Sternberg F, Moriggl R, Theurillat JP, Tichy B, Bystry V, Persson JL, Mathas S, Aberger F, Strobl B, Pospisilova S, Merkel O, Egger G, Lagger S, Kenner L. Redmer T, et al. Among authors: egger g. Mol Cancer. 2024 May 29;23(1):114. doi: 10.1186/s12943-024-02022-x. Mol Cancer. 2024. PMID: 38811984 Free PMC article.
Comparison of discovery rates and prognostic utility of [68Ga]Ga-PSMA-11 PET/CT and circulating tumor DNA in prostate cancer-a cross-sectional study.
Kluge K, Einspieler H, Haberl D, Spielvogel C, Amereller D, Egger G, Kramer G, Grubmüller B, Shariat S, Hacker M, Kenner L, Haug A. Kluge K, et al. Among authors: egger g. Eur J Nucl Med Mol Imaging. 2024 May 2. doi: 10.1007/s00259-024-06698-7. Online ahead of print. Eur J Nucl Med Mol Imaging. 2024. PMID: 38693454
Examining the Relationship and Prognostic Significance of Cell-Free DNA Levels and the PSMA-Positive Tumor Volume in Men with Prostate Cancer: A Retrospective-Prospective [68Ga]Ga-PSMA-11 PET/CT Study.
Kluge K, Einspieler H, Haberl D, Spielvogel C, Stoiber S, Vraka C, Papp L, Wunsch S, Egger G, Kramer G, Grubmüller B, Shariat S, Hacker M, Kenner L, Haug A. Kluge K, et al. Among authors: egger g. J Nucl Med. 2024 Jan 2;65(1):63-70. doi: 10.2967/jnumed.123.266158. J Nucl Med. 2024. PMID: 38050125 Free PMC article.
361 results