Not logged in Critical assessment of missense variant effect predictors on disease-relevant variant data Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, Francois; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Celine; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N.; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E.; Ioannidis, Nilah M. Share Save
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers Chen, Yile; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-wook; Keum, Changwon; Babbi, Giulia; Casadio, Rita; Martelli, Pier Luigi; Savojardo, Castrense; Manfredi, Matteo; Shen, Yang; Sun, Yuanfei; Katsonis, Panagiotis; Lichtarge, Olivier; Pejaver, Vikas; Seward, David J.; Kamandula, Akash; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; O'Donnell-Luria, Anne; Mooney, Sean D.; Jain, Shantanu Share Save
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss Kim, So Young; Kim, Bong Jik; Oh, Doo Yi; Han, Jin Hee; Yi, Nayoung; Kim, Namju Justin; Park, Moo Kyun; Keum, Changwon; Seo, Go Hun; Choi, Byung Yoon Share Save
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity Kim, So Young; Lee, Seungmin; Seo, Go Hun; Kim, Bong Jik; Oh, Doo Yi; Han, Jin Hee; Park, Moo Kyun; Lee, So Min; Kim, Bonggi; Yi, Nayoung; Kim, Namju Justin; Koh, Doo Hyun; Hwang, Sohyun; Keum, Changwon; Choi, Byung Yoon Share Save
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients Kim, You Na; Song, Joon Seon; Oh, Seak Hee; Kim, Yoon Jeon; Yoon, Young Hee; Seo, Eul-Ju; Seol, Chang Ahn; Lee, Sae-Mi; Choi, Jong-Moon; Seo, Go Hun; Keum, Changwon; Lee, Beom Hee; Lee, Joo Yong Share Save
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