@article{UBHD-69289701, author={André, Timon and van Berkel, Annemiek A. and Singh, Gurdeep and Abualrous, Esam T. and Diwan, Gaurav and Schmenger, Torsten and Braun, Lara and Malsam, J{\"o}rg and Toonen, Ruud F. and Freund, Christian and Russell, Robert B. and Verhage, Matthijs and S{\"o}llner, Thomas}, title={Reduced protein stability of 11 pathogenic missense STXBP1/MUNC18-1 variants and improved disease prediction}, year={2024}, pages={125-136}, language={eng}, issn={1873-2402}, volume={96}, number={2 vom: Juli}, note={Online verf{\"u}gbar 13 March 2024, Version des Artikels 24 June 2024 ; Gesehen am 13.01.2025}, journal={Biological psychiatry}, doi={10.1016/j.biopsych.2024.03.007}, } @article{UBHD-69106909, author={Colbourne, John and Chung, Mu-En and Diwan, Gaurav and Singh, Gurdeep and Str{\"a}hle, Uwe and Russell, Robert B.}, title={The Precision Toxicology initiative}, year={2023}, pages={33-42}, language={eng}, issn={1879-3169}, volume={383(2023) vom: Juli}, note={Online verf{\"u}gbar: 19. Mai 2023, Artikelversion: 7. Juni 2023 ; *The PrecisionTox Consortium: John K. Colbourne, Mu-En Chung, Juan Carlos Gonzalez Sanchez, Gaurav D. Diwan, Gurdeep Singh, Uwe Str{\"a}hle, Robert B. Russell [und viele weitere Personen] ; Gesehen am 07.08.2023}, journal={Toxicology letters}, doi={10.1016/j.toxlet.2023.05.004}, } @article{UBHD-69167287, author={Ellermann, Julia and Uhrig, Sebastian and Heilig, Christoph E. and Lee, Kwang Seok and Walther, Tatjana and Carazzato, Alexander and Dobberkau, Anna Maria and Weichenhan, Dieter and Plass, Christoph and Hartmann, Mark and Diwan, Gaurav and Carrero, Zunamys I. and Ball, Claudia R. and Hohl, Tobias and Kindler, Thomas and Rudolph-H{\"a}hnel, Patricia and Helm, Dominic and Schneider, Martin and Nilsson, Anna and Øra, Ingrid and Imle, Roland and Banito, Ana and Russell, Robert B. and Jones, Barbara Christine and Lipka, Daniel and Glimm, Hanno and H{\"u}bschmann, Daniel and Hartmann, Wolfgang and Fr{\"o}hling, Stefan and Scholl, Claudia}, title={Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions}, year={2024}, pages={1-17}, language={eng}, issn={2041-1723}, volume={15}, number={Artikel-ID 51}, note={Gesehen am 30.01.2024}, journal={Nature Communications}, doi={10.1038/s41467-023-44360-2}, } @article{UBHD-69186155, author={Freke, Grace Mercedes and Martins, Tiago and Davies, Rosalind Jane and Beyer, Tina and Seda, Marian and Peskett, Emma and Haq, Naila and Prasai, Avishek and Otto, Georg and Jeyabalan Srikaran, Jeshmi and Hernandez, Victor and Diwan, Gaurav and Russell, Robert B. and Ueffing, Marius and Huranova, Martina and Boldt, Karsten and Beales, Philip L. and Jenkins, Dagan}, title={De-Suppression of mesenchymal cell identities and variable phenotypic outcomes associated with knockout of Bbs1}, year={2023}, pages={1-21}, language={eng}, issn={2073-4409}, volume={12}, note={Gesehen am 27.02.2024}, journal={Cells}, doi={10.3390/cells12222662}, } @article{UBHD-69294009, author={Rezi, Csenge K. and Aslanyan, Mariam G and Diwan, Gaurav and Cheng, Tao and Chamlali, Mohamed and Junger, Katrin and Anvarian, Zeinab and Lorentzen, Esben and Pauly, Kleo B and Afshar-Bahadori, Yasmin and Fernandes, Eduardo FA and Qian, Feng and Tosi, Sébastien and Christensen, Søren T and Pedersen, Stine F and Strømgaard, Kristian and Russell, Robert B. and Miner, Jeffrey H and Mahjoub, Moe R and Boldt, Karsten and Roepman, Ronald and Pedersen, Lotte B}, title={DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2}, year={2024}, pages={3040-3063}, language={eng}, issn={1469-3178}, volume={25}, number={7}, note={Gesehen am 24.01.2025}, journal={EMBO reports}, doi={10.1038/s44319-024-00170-1}, } @article{UBHD-69126424, author={Sane, Mrudula and Diwan, Gaurav and Bhat, Bhoomika A. and Wahl, Lindi M. and Agashe, Deepa}, title={Shifts in mutation spectra enhance access to beneficial mutations}, year={2023}, pages={1-11}, language={eng}, issn={1091-6490}, volume={120}, note={Ver{\"o}ffentlicht: 22. Mai 2023 ; Gesehen am 04.10.2023}, journal={Proceedings of the National Academy of Sciences of the United States of America}, doi={10.1073/pnas.2207355120}, } @article{UBHD-68972178, author={Schmenger, Torsten and Diwan, Gaurav and Singh, Gurdeep and Apic, Gordana and Russell, Robert B.}, title={Never-homozygous genetic variants in healthy populations are potential recessive disease candidates}, year={2022}, pages={1-7}, language={eng}, issn={2056-7944}, volume={7}, note={Gesehen am 11.10.2022}, journal={npj Genomic Medicine}, doi={10.1038/s41525-022-00322-z}, url={https://doi.org/10.1038/s41525-022-00322-z}, library={UB}, } @article{UBHD-68564563, author={Staufner, Christian and Leibner, Alexander and Moog, Ute and Diwan, Gaurav and Dikow, Nicola and Russell, Robert B. and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic}, title={Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients}, year={2020}, pages={610-621}, language={eng}, issn={1530-0366}, volume={22}, number={3}, note={Published online: 25 November 2019 ; Gesehen am 15.04.2020}, journal={Genetics in medicine}, doi={10.1038/s41436-019-0698-4}, }