Genomic medicine: evolving science, evolving ethics

gan Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D
Cyhoeddwyd 2012

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

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

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

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

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

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

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

gan 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.
Cyhoeddwyd yn Genomics (2013)

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

gan 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.
Cyhoeddwyd yn Genomics (2013)

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

gan 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.
Cyhoeddwyd yn Neurobiol Dis (2017)

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

gan 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
Cyhoeddwyd yn NPJ Genom Med (2016)

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

gan 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
Cyhoeddwyd yn NPJ Genom Med (2017)

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

gan 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.
Cyhoeddwyd yn Genome Med (2015)

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

gan 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
Cyhoeddwyd yn Lancet Respir Med (2015)

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

gan 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.
Cyhoeddwyd yn Sci Transl Med (2014)