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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: trinidad m. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K, Froelich S, Wuster A, Bauer CR, Sterling T, Clark WT, Ru Y, Trinidad M, Nguyen HP, Luu AR, Wendt DJ, Yogalingam G, Yu GK, LeBowitz JH, Cardon LR. Estrada K, et al. Among authors: trinidad m. Nat Commun. 2021 Apr 13;12(1):2224. doi: 10.1038/s41467-021-21843-8. Nat Commun. 2021. PMID: 33850126 Free PMC article.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: trinidad m. Am J Hum Genet. 2024 May 21:S0002-9297(24)00162-9. doi: 10.1016/j.ajhg.2024.04.021. Online ahead of print. Am J Hum Genet. 2024. PMID: 38781976 Free article.
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Jiménez Barrón LT, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT. Jain S, et al. Among authors: trinidad m. bioRxiv [Preprint]. 2024 May 19:2024.05.16.594558. doi: 10.1101/2024.05.16.594558. bioRxiv. 2024. PMID: 38798479 Free PMC article. Preprint.
Rapid DNA unwinding accelerates genome editing by engineered CRISPR-Cas9.
Eggers AR, Chen K, Soczek KM, Tuck OT, Doherty EE, Xu B, Trinidad MI, Thornton BW, Yoon PH, Doudna JA. Eggers AR, et al. Among authors: trinidad mi. Cell. 2024 May 13:S0092-8674(24)00457-4. doi: 10.1016/j.cell.2024.04.031. Online ahead of print. Cell. 2024. PMID: 38781968 Free article.
Concordance of Blood Glucose and CGM During a Pilot Trial of Automated Insulin Delivery in Type 1 Diabetes Pregnancies.
Kaur RJ, Levy CJ, Castorino K, Wood-Wentz CM, Rizvi SR, Ozaslan B, O'Malley G, Trinidad MC, Levister C, Church MM, Desjardins D, Ogyaadu S, Reid C, Bailey KR, Doyle FJ 3rd, Pinsker JE, Dassau E, Kudva YC. Kaur RJ, et al. Among authors: trinidad mc. J Endocr Soc. 2024 Apr 15;8(6):bvae071. doi: 10.1210/jendso/bvae071. eCollection 2024 Apr 6. J Endocr Soc. 2024. PMID: 38721109 Free PMC article.
RNA language models predict mutations that improve RNA function.
Shulgina Y, Trinidad MI, Langeberg CJ, Nisonoff H, Chithrananda S, Skopintsev P, Nissley AJ, Patel J, Boger RS, Shi H, Yoon PH, Doherty EE, Pande T, Iyer AM, Doudna JA, Cate JHD. Shulgina Y, et al. Among authors: trinidad mi. bioRxiv [Preprint]. 2024 Apr 6:2024.04.05.588317. doi: 10.1101/2024.04.05.588317. bioRxiv. 2024. PMID: 38617247 Free PMC article. Preprint.
69 results