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NPJ Precision Oncology|February 1, 2024
Autologous anti-GD2 CAR T cells efficiently target primary human glioblastomaChiara Chiavelli, Malvina Prapa, Giulia Rovesti, et al.Human Molecular Genetics|February 22, 2014
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotypePamela Magini, Tommaso Pippucci, I-Chun Tsai, et al.Human Molecular Genetics|July 25, 2009
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosisMario Sabatelli, Fabrizio Eusebi, Ammar Al-Chalabi, et al.American Journal of Medical Genetics. Part A|March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.Nature Genetics|February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.Science Translational Medicine|January 7, 2011
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056Sébastien Jacquemont, Aurore Curie, Vincent des Portes, et al.Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|July 6, 2026
Switching to aflibercept 8 mg in neovascular age-related macular degeneration: real-world outcomes according to switch indicationDaniele Veritti, Valentina Sarao, Marco Lupidi, et al.Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.Pageof 30