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279 results

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Page 1
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M. Van Haute L, et al. Among authors: deshpande c. EMBO Mol Med. 2024 Nov 20. doi: 10.1038/s44321-024-00172-5. Online ahead of print. EMBO Mol Med. 2024. PMID: 39567835
ZNF512B binds RBBP4 via a variant NuRD interaction motif and aggregates chromatin in a NuRD complex-independent manner.
Wunderlich TM, Deshpande C, Paasche LW, Friedrich T, Diegmüller F, Haddad E, Kreienbaum C, Naseer H, Stebel SE, Daus N, Leers J, Lan J, Trinh VT, Vázquez O, Butter F, Bartkuhn M, Mackay JP, Hake SB. Wunderlich TM, et al. Among authors: deshpande c. Nucleic Acids Res. 2024 Oct 26:gkae926. doi: 10.1093/nar/gkae926. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39460621
Diagnostic alignment to optimize inter-rater reliability among lung transplant pathologists.
Pavlisko EN, Neely ML, Wikenheiser-Brokamp KA, Fishbein GA, Litzky L, Farver CF, Pal P, He M, Illei PB, Deshpande C, Robien MA, Kirchner J, Frankel CW, Lang JE, Belperio JA, Palmer SM, Sweet SC; Clinical Trials and Organ Transplantation (CTOT)-47 consortium. Pavlisko EN, et al. Among authors: deshpande c. J Heart Lung Transplant. 2024 Oct 13:S1053-2498(24)01895-3. doi: 10.1016/j.healun.2024.10.007. Online ahead of print. J Heart Lung Transplant. 2024. PMID: 39406318
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: deshpande c. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Brief Report: Impact of Reflex Testing on Tissue-Based Molecular Genotyping in Patients With Advanced Non-Squamous Non-Small Cell Lung Cancer.
Marmarelis ME, Scholes DG, McGrath CM, Priore SF, Roth JJ, Feldman M, Morrissette JJD, Litzky L, Deshpande C, Thompson JC, Doucette A, Gabriel PE, Sun L, Singh AP, Cohen RB, Langer CJ, Carpenter EL, Aggarwal C. Marmarelis ME, et al. Among authors: deshpande c. Clin Lung Cancer. 2024 May;25(3):262-265.e2. doi: 10.1016/j.cllc.2024.03.002. Epub 2024 Mar 12. Clin Lung Cancer. 2024. PMID: 38582618 No abstract available.
HVDROPDB datasets for research in retinopathy of prematurity.
Agrawal R, Walambe R, Kotecha K, Gaikwad A, Deshpande CM, Kulkarni S. Agrawal R, et al. Among authors: deshpande cm. Data Brief. 2023 Nov 25;52:109839. doi: 10.1016/j.dib.2023.109839. eCollection 2024 Feb. Data Brief. 2023. PMID: 38146298 Free PMC article.
279 results