Emergency medical genomes: a breakthrough application of precision medicine

por Kingsmore, Stephen F., Petrikin, Josh, Willig, Laurel K., Guest, Erin
Publicado 2015

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

por Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel, Amanda K, Leeder, J Steven, Dinakarpandian, Deendayal, Kingsmore, Stephen F
Publicado 2016

Clinical detection of deletion structural variants in whole-genome sequences

por Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Publicado 2016

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

por Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel, Amanda K, Leeder, J Steven, Dinakarpandian, Deendayal, Kingsmore, Stephen F
Publicado 2017

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

por Petrikin, Josh E., Cakici, Julie A., Clark, Michelle M., Willig, Laurel K., Sweeney, Nathaly M., Farrow, Emily G., Saunders, Carol J., Thiffault, Isabelle, Miller, Neil A., Zellmer, Lee, Herd, Suzanne M., Holmes, Anne M., Batalov, Serge, Veeraraghavan, Narayanan, Smith, Laurie D., Dimmock, David P., Leeder, J. Steven, Kingsmore, Stephen F.
Publicado 2018

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

por Miller, Neil A., Farrow, Emily G., Gibson, Margaret, Willig, Laurel K., Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E., Saunders, Carol J., Thiffault, Isabelle, Soden, Sarah E., Smith, Laurie D., Dinwiddie, Darrell L., Herd, Suzanne, Cakici, Julie A., Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F.
Publicado 2015