Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

por Chunn, Lauren M., Bissonnette, Jeffrey, Heinrich, Stefanie V., Mercurio, Stephanie A., Kiel, Mark J., Rutsch, Frank, Ferreira, Carlos R.
Publicado 2022

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

por Chunn, Lauren M., Nefcy, Diane C., Scouten, Rachel W., Tarpey, Ryan P., Chauhan, Gurinder, Lim, Megan S., Elenitoba-Johnson, Kojo S. J., Schwartz, Steven A., Kiel, Mark J.
Publicado 2020

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

por Sarafrazi, Soodabeh, Daugherty, Sean C., Miller, Nicole, Boada, Patrick, Carpenter, Thomas O., Chunn, Lauren, Dill, Kariena, Econs, Michael J., Eisenbeis, Scott, Imel, Erik A., Johnson, Britt, Kiel, Mark J., Krolczyk, Stan, Ramesan, Prameela, Truty, Rebecca, Sabbagh, Yves
Publicado 2021