Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier de la Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T. Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer L. Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E. Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T. Clark

Open source

DOI
10.1007/s00439-025-02731-3
Published
2025-03
Container
Human Genetics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1007/s00439-025-02731-3,
  title = {Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A},
  author = {Shantanu Jain and Marena Trinidad and Thanh Binh Nguyen and Kaiya Jones and Santiago Diaz Neto and Fang Ge and Ailin Glagovsky and Cameron Jones and Giankaleb Moran and Boqi Wang and Kobra Rahimi and Sümeyra Zeynep Çalıcı and Luis R. Cedillo and Silvia Berardelli and Buse Özden and Ken Chen and Panagiotis Katsonis and Amanda Williams and Olivier Lichtarge and Sadhna Rana and Swatantra Pradhan and Rajgopal Srinivasan and Rakshanda Sajeed and Dinesh Joshi and Eshel Faraggi and Robert Jernigan and Andrzej Kloczkowski and Jierui Xu and Zigang Song and Selen Özkan and Natàlia Padilla and Xavier de la Cruz and Rocio Acuna-Hidalgo and Andrea Grafmüller and Laura T. Jiménez Barrón and Matteo Manfredi and Castrense Savojardo and Giulia Babbi and Pier Luigi Martelli and Rita Casadio and Yuanfei Sun and Shaowen Zhu and Yang Shen and Fabrizio Pucci and Marianne Rooman and Gabriel Cia and Daniele Raimondi and Pauline Hermans and Sofia Kwee and Ella Chen and Courtney Astore and Akash Kamandula and Vikas Pejaver and Rashika Ramola and Michelle Velyunskiy and Daniel Zeiberg and Reet Mishra and Teague Sterling and Jennifer L. Goldstein and Jose Lugo-Martinez and Sufyan Kazi and Sindy Li and Kinsey Long and Steven E. Brenner and Constantina Bakolitsa and Predrag Radivojac and Dean Suhr and Teryn Suhr and Wyatt T. Clark},
  year = {2025},
  journal = {Human Genetics},
  doi = {10.1007/s00439-025-02731-3},
  url = {https://doi.org/10.1007/s00439-025-02731-3}
}

RIS

TY  - JOUR
TI  - Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
AU  - Shantanu Jain
AU  - Marena Trinidad
AU  - Thanh Binh Nguyen
AU  - Kaiya Jones
AU  - Santiago Diaz Neto
AU  - Fang Ge
AU  - Ailin Glagovsky
AU  - Cameron Jones
AU  - Giankaleb Moran
AU  - Boqi Wang
AU  - Kobra Rahimi
AU  - Sümeyra Zeynep Çalıcı
AU  - Luis R. Cedillo
AU  - Silvia Berardelli
AU  - Buse Özden
AU  - Ken Chen
AU  - Panagiotis Katsonis
AU  - Amanda Williams
AU  - Olivier Lichtarge
AU  - Sadhna Rana
AU  - Swatantra Pradhan
AU  - Rajgopal Srinivasan
AU  - Rakshanda Sajeed
AU  - Dinesh Joshi
AU  - Eshel Faraggi
AU  - Robert Jernigan
AU  - Andrzej Kloczkowski
AU  - Jierui Xu
AU  - Zigang Song
AU  - Selen Özkan
AU  - Natàlia Padilla
AU  - Xavier de la Cruz
AU  - Rocio Acuna-Hidalgo
AU  - Andrea Grafmüller
AU  - Laura T. Jiménez Barrón
AU  - Matteo Manfredi
AU  - Castrense Savojardo
AU  - Giulia Babbi
AU  - Pier Luigi Martelli
AU  - Rita Casadio
AU  - Yuanfei Sun
AU  - Shaowen Zhu
AU  - Yang Shen
AU  - Fabrizio Pucci
AU  - Marianne Rooman
AU  - Gabriel Cia
AU  - Daniele Raimondi
AU  - Pauline Hermans
AU  - Sofia Kwee
AU  - Ella Chen
AU  - Courtney Astore
AU  - Akash Kamandula
AU  - Vikas Pejaver
AU  - Rashika Ramola
AU  - Michelle Velyunskiy
AU  - Daniel Zeiberg
AU  - Reet Mishra
AU  - Teague Sterling
AU  - Jennifer L. Goldstein
AU  - Jose Lugo-Martinez
AU  - Sufyan Kazi
AU  - Sindy Li
AU  - Kinsey Long
AU  - Steven E. Brenner
AU  - Constantina Bakolitsa
AU  - Predrag Radivojac
AU  - Dean Suhr
AU  - Teryn Suhr
AU  - Wyatt T. Clark
PY  - 2025
JO  - Human Genetics
DO  - 10.1007/s00439-025-02731-3
UR  - https://doi.org/10.1007/s00439-025-02731-3
ER  -

APA

Jain, S., Trinidad, M., Nguyen, T. B., Jones, K., Neto, S. D., Ge, F., Glagovsky, A., Jones, C., Moran, G., Wang, B., Rahimi, K., Çalıcı, S. Z., Cedillo, L. R., 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., Cruz, X. D. L., Acuna-Hidalgo, R., Grafmüller, A., Barrón, L. T. J., Manfredi, M., Savojardo, C., Babbi, G., Martelli, P. L., 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, J. L., Lugo-Martinez, J., Kazi, S., Li, S., Long, K., Brenner, S. E., Bakolitsa, C., Radivojac, P., Suhr, D., Suhr, T., & Clark, W. T. (2025). Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Human Genetics. https://doi.org/10.1007/s00439-025-02731-3

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