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Page 1
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: rooman m. bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558. bioRxiv. 2024. PMID: 38798479 Free PMC article. Preprint.
Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: rooman m. bioRxiv [Preprint]. 2024 Jun 8:2024.06.06.597828. doi: 10.1101/2024.06.06.597828. bioRxiv. 2024. PMID: 38895200 Free PMC article. Preprint.
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6.
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song YS, Sun Y, Shen Y, Kuru N, Dereli O, Adebali O, Alladin MA, Pal D, Capriotti E, Turina MP, Savojardo C, Martelli PL, Babbi G, Casadio R, Pucci F, Rooman M, Cia G, Tsishyn M, Strokach A, Hu Z, van Loggerenberg W, Roth FP, Radivojac P, Brenner SE, Cong Q, Grishin NV. Zhang J, et al. Among authors: rooman m. Hum Genet. 2024 Aug 7. doi: 10.1007/s00439-024-02680-3. Online ahead of print. Hum Genet. 2024. PMID: 39110250
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.
Turina P, Dal Cortivo G, Enriquez Sandoval CA, Alexov E, Ascher DB, Babbi G, Bakolitsa C, Casadio R, Fariselli P, Folkman L, Kamandula A, Katsonis P, Li D, Lichtarge O, Martelli PL, Panday SK, Pires DEV, Portelli S, Pucci F, Rodrigues CHM, Rooman M, Savojardo C, Schwersensky M, Shen Y, Strokach AV, Sun Y, Woo J, Radivojac P, Brenner SE, Dell'Orco D, Capriotti E. Turina P, et al. Among authors: rooman m. Hum Genet. 2024 Dec 23. doi: 10.1007/s00439-024-02720-y. Online ahead of print. Hum Genet. 2024. PMID: 39714488
137 results