A paper “PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases” was published in The American Journal of Human Genetics.

A paper “PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases” was published in The American Journal of Human Genetics. Toyofumi Fujiwara, Dr. Yasunori Yamamoto, and Dr. Jin-Dong Kim in DBCLS, Dr. Orion Buske in The Hospital for Sick Children, and Prof. Toshihisa Takagi in Tokyo University contributed to this work.

The full paper can be found online at: https://doi.org/10.1016/j.ajhg.2018.08.003

Toyofumi Fujiwara, Yasunori Yamamoto, Jin-Dong Kim, Orion Buske, and Toshihisa Takagi, PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential- Diagnosis System for Rare Diseases, The American Journal of Human Genetics (2018), https://doi.org/10.1016/j.ajhg.2018.08.003