The Evolution of PharmVar

por Gaedigk, Andrea, Sangkuhl, Katrin, Whirl‐Carrillo, Michelle, Twist, Greyson P., Klein, Teri E., Miller, Neil A.
Publicado 2018

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

por Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee, Kingsmore, Stephen F, Safina, Nicole P
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

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

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