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Page 1
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: prada medina ca. 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.
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: prada medina ca. 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.
Profiling the genome and proteome of metabolic dysfunction-associated steatotic liver disease identifies potential therapeutic targets.
Liu J, Hu S, Chen L, Daly C, Prada Medina CA, Richardson TG, Traylor M, Dempster NJ, Mbasu R, Monfeuga T, Vujkovic M, Tsao PS, Lynch JA, Voight BF, Chang KM, Million VA, Cobbold JF, Tomlinson JW, van Duijn CM, Howson JMM. Liu J, et al. Among authors: prada medina ca. medRxiv [Preprint]. 2023 Nov 30:2023.11.30.23299247. doi: 10.1101/2023.11.30.23299247. medRxiv. 2023. PMID: 38076879 Free PMC article. Preprint.
Evaluation of long acting GLP1R/GCGR agonist in a DIO and biopsy-confirmed mouse model of NASH suggest a beneficial role of GLP-1/glucagon agonism in NASH patients.
Monfeuga T, Norlin J, Bugge A, Gaalsgaard ED, Prada-Medina CA, Latta M, Veidal SS, Petersen PS, Feigh M, Holst D. Monfeuga T, et al. Among authors: prada medina ca. Mol Metab. 2024 Jan;79:101850. doi: 10.1016/j.molmet.2023.101850. Epub 2023 Dec 7. Mol Metab. 2024. PMID: 38065435 Free PMC article.
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: prada medina ca. Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7. Nat Commun. 2023. PMID: 37813867 Free PMC article. No abstract available.
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: prada medina ca. Nat Commun. 2023 May 18;14(1):2839. doi: 10.1038/s41467-023-38736-7. Nat Commun. 2023. PMID: 37202388 Free PMC article. No abstract available.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: prada medina ca. Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8. Nat Commun. 2023. PMID: 37041138 Free PMC article.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: prada medina ca. Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z. Nat Commun. 2023. PMID: 36928426 Free PMC article.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann F, Cogulu O, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: prada medina ca. Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. Epub 2023 Feb 28. Genet Med. 2023. PMID: 36853234 Free article. No abstract available.
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes.
Ringel AR, Szabo Q, Chiariello AM, Chudzik K, Schöpflin R, Rothe P, Mattei AL, Zehnder T, Harnett D, Laupert V, Bianco S, Hetzel S, Glaser J, Phan MHQ, Schindler M, Ibrahim DM, Paliou C, Esposito A, Prada-Medina CA, Haas SA, Giere P, Vingron M, Wittler L, Meissner A, Nicodemi M, Cavalli G, Bantignies F, Mundlos S, Robson MI. Ringel AR, et al. Among authors: prada medina ca. Cell. 2022 Sep 29;185(20):3689-3704.e21. doi: 10.1016/j.cell.2022.09.006. Cell. 2022. PMID: 36179666 Free PMC article.
19 results