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STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Balachandran S, Prada-Medina CA, Mensah MA, Kakar N, Nagel I, Pozojevic J, Audain E, Hitz MP, Kircher M, Sreenivasan VKA, Spielmann M. Balachandran S, et al. Among authors: sreenivasan vka. Am J Hum Genet. 2024 Feb 1;111(2):338-349. doi: 10.1016/j.ajhg.2023.12.011. Epub 2024 Jan 15. Am J Hum Genet. 2024. PMID: 38228144 Free PMC article.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Balachandran S, Prada-Medina CA, Mensah MA, Glaser J, Kakar N, Nagel I, Pozojevic J, Audain E, Hitz MP, Kircher M, Sreenivasan VKA, Spielmann M. Balachandran S, et al. Among authors: sreenivasan vka. Am J Hum Genet. 2024 Mar 7;111(3):618. doi: 10.1016/j.ajhg.2024.01.009. Am J Hum Genet. 2024. PMID: 38458167 Free PMC article. No abstract available.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M. Huang X, et al. Among authors: sreenivasan vka. Nature. 2023 Nov;623(7988):772-781. doi: 10.1038/s41586-023-06548-w. Epub 2023 Nov 15. Nature. 2023. PMID: 37968388 Free PMC article.
The role of single-cell genomics in human genetics.
Sreenivasan VKA, Balachandran S, Spielmann M. Sreenivasan VKA, et al. J Med Genet. 2022 Sep;59(9):827-839. doi: 10.1136/jmedgenet-2022-108588. Epub 2022 Jul 5. J Med Genet. 2022. PMID: 35790352 Free PMC article. Review.
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Pozojevic J, et al. Among authors: sreenivasan vka. Int J Mol Sci. 2022 Feb 17;23(4):2231. doi: 10.3390/ijms23042231. Int J Mol Sci. 2022. PMID: 35216353 Free PMC article.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, Jamsheer A. Socha M, et al. Among authors: sreenivasan vka. Am J Hum Genet. 2021 Sep 2;108(9):1725-1734. doi: 10.1016/j.ajhg.2021.08.001. Epub 2021 Aug 24. Am J Hum Genet. 2021. PMID: 34433009 Free PMC article.
30 results