Genomic medicine: evolving science, evolving ethics

od Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D
Izdano 2012

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

od Kingsmore, Stephen F, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Saunders, Carol J
Izdano 2011

Next-generation community genetics for low- and middle-income countries

od Kingsmore, Stephen F, Lantos, John D, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Farrow, Emily G, Saunders, Carol J
Izdano 2012

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

od Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F
Izdano 2013

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

od Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.
Izdano u Genomics (2013)

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

od Dinwiddie, Darrell L., Bracken, Julia M., Bass, Julie A., Christenson, Kathy, Soden, Sarah E., Saunders, Carol J., Miller, Neil A., Singh, Vivekanand, Zwick, David L., Roberts, Charles C., Dalal, Jignesh, Kingsmore, Stephen F.
Izdano u Genomics (2013)

GPR37L1 Modulates Seizure Susceptibility: Evidence from Mouse Studies and Analyses of a Human GPR37L1 Variant

od Giddens, Michelle M., Wong, Jennifer C., Schroeder, Jason P., Farrow, Emily G., Smith, Brilee M., Owino, Sharon, Soden, Sarah E., Meyer, Rebecca C., Saunders, Carol, LePichon, J.B., Weinshenker, David, Escayg, Andrew, Hall, Randy A.
Izdano u Neurobiol Dis (2017)

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

od 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
Izdano u NPJ Genom Med (2016)

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

od 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
Izdano u NPJ Genom Med (2017)

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

od 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.
Izdano u Genome Med (2015)

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

od Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F
Izdano u Lancet Respir Med (2015)

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

od Soden, Sarah E., Saunders, Carol J., Willig, Laurel K., Farrow, Emily G., Smith, Laurie D., Petrikin, Josh E., LePichon, Jean-Baptiste, Miller, Neil A., Thiffault, Isabelle, Dinwiddie, Darrell L., Twist, Greyson, Noll, Aaron, Heese, Bryce A., Zellmer, Lee, Atherton, Andrea M., Abdelmoity, Ahmed T., Safina, Nicole, Nyp, Sarah S., Zuccarelli, Britton, Larson, Ingrid A., Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A., Kingsmore, Stephen F.
Izdano u Sci Transl Med (2014)