Selected Publications
- 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. Human Genetics
- CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs). Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Yexian Zhang, Qi Li, Maggie Haitian Wang, Giulia Babbi, Samuele Bovo, Pier Luigi Martelli, Rita Casadio, Azza Althagafi, Sumyyah Toonsi, Maxat Kulmanov, Robert Hoehndorf, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Su Xian, Wesley Surento, Vikas Pejaver, Sean D. Mooney, Uma Sunderam, Rajgopal Srinivasan, Alessandra Murgia, Damiano Piovesan, Silvio C.E. Tosatto, Emanuela Leonardi. Human Genetics
- Critical assessment of missense variant effect predictors on disease-relevant variant data. Ruchir Rastogi, Ryan Chung, Sindy Li, Chang Li, Kyoungyeul Lee, Junwoo Woo, Dong Wook Kim, Changwon Keum, Giulia Babbi, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Kirsley Chennen, Thomas Weber, Olivier Poch, François Ancien, Gabriel Cia, Fabrizio Pucci, Daniele Raimondi, Wim Vranken, Marianne Rooman, Céline Marquet, Tobias Olenyi, Burkhard Rost, Gaia Andreoletti, Akash Kamandula, Yisu Peng, Constantina Bakolitsa, Matthew Mort, David N. Cooper, Timothy Bergquist, Vikas Pejaver, Xiaoming Liu, Predrag Radivojac, Steven E. Brenner, Nilah M. Ioannidis. Human Genetics