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Page 1
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
An HSF1-JMJD6-HSP feedback circuit promotes cell adaptation to proteotoxic stress.
Alasady MJ, Koeva M, Takagishi SR, Segal D, Amici DR, Smith RS, Ansel DJ, Lindquist S, Whitesell L, Bartom ET, Taipale M, Mendillo ML. Alasady MJ, et al. Among authors: ansel dj. Proc Natl Acad Sci U S A. 2024 Jul 16;121(29):e2313370121. doi: 10.1073/pnas.2313370121. Epub 2024 Jul 10. Proc Natl Acad Sci U S A. 2024. PMID: 38985769 Free PMC article.
HSF1 remodels mitochondrial biogenesis and function in cancer cells via TIMM17A.
Nguyen NGT, Sapkota H, Shibata Y, Fesiuk A, Antalek M, Sail V, Ansel DJ, Amici DR, Peelor FF, Van Remmen H, Miller BF, Mendillo ML, Morimoto RI, Li J. Nguyen NGT, et al. Among authors: ansel dj. bioRxiv [Preprint]. 2025 May 14:2025.05.12.653547. doi: 10.1101/2025.05.12.653547. bioRxiv. 2025. PMID: 40463013 Free PMC article. Preprint.
C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.
Amici DR, Ansel DJ, Metz KA, Smith RS, Phoumyvong CM, Gayatri S, Chamera T, Edwards SL, O'Hara BP, Srivastava S, Brockway S, Takagishi SR, Cho BK, Goo YA, Kelleher NL, Ben-Sahra I, Foltz DR, Li J, Mendillo ML. Amici DR, et al. Among authors: ansel dj. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2111262119. doi: 10.1073/pnas.2111262119. Epub 2022 Jul 1. Proc Natl Acad Sci U S A. 2022. PMID: 35776542 Free PMC article.
Dementia prevalence and incidence in a federation of European Electronic Health Record databases: The European Medical Informatics Framework resource.
Perera G, Pedersen L, Ansel D, Alexander M, Arrighi HM, Avillach P, Foskett N, Gini R, Gordon MF, Gungabissoon U, Mayer MA, Novak G, Rijnbeek P, Trifirò G, van der Lei J, Visser PJ, Stewart R. Perera G, et al. Among authors: ansel d. Alzheimers Dement. 2018 Feb;14(2):130-139. doi: 10.1016/j.jalz.2017.06.2270. Epub 2017 Jul 21. Alzheimers Dement. 2018. PMID: 28734783 Free article.
Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Shen Y, et al. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
20 results