Genomic medicine: evolving science, evolving ethics

Por Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D
Publicado em 2012

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

Por Kingsmore, Stephen F, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Saunders, Carol J
Publicado em 2011

Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Por Raje, Nikita, Soden, Sarah, Swanson, Douglas, Ciaccio, Christina E., Kingsmore, Stephen F., Dinwiddie, Darrell L.
Publicado no Curr Allergy Asthma Rep (2014)

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

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

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

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

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Por Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol
Publicado no BMC Med Genet (2017)

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

Por 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.
Publicado no Genomics (2013)

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Por Job, Florian, Mizumoto, Shuji, Smith, Laurie, Couser, Natario, Brazil, Ashley, Saal, Howard, Patterson, Melanie, Gibson, Margaret I., Soden, Sarah, Miller, Neil, Thiffault, Isabelle, Saunders, Carol, Yamada, Shuhei, Hoffmann, Katrin, Sugahara, Kazuyuki, Farrow, Emily
Publicado no BMC Med Genet (2016)

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

Por Thiffault, Isabelle, Speca, David J., Austin, Daniel C., Cobb, Melanie M., Eum, Kenneth S., Safina, Nicole P., Grote, Lauren, Farrow, Emily G., Miller, Neil, Soden, Sarah, Kingsmore, Stephen F., Trimmer, James S., Saunders, Carol J., Sack, Jon T.
Publicado no J Gen Physiol (2015)

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

Por 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.
Publicado no Neurobiol Dis (2017)

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 no NPJ Genom Med (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 no NPJ Genom Med (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 no Genome Med (2015)

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Por Saunders, Carol Jean, Miller, Neil Andrew, Soden, Sarah Elizabeth, Dinwiddie, Darrell Lee, Noll, Aaron, Alnadi, Noor Abu, Andraws, Nevene, Patterson, Melanie LeAnn, Krivohlavek, Lisa Ann, Fellis, Joel, Humphray, Sean, Saffrey, Peter, Kingsbury, Zoya, Weir, Jacqueline Claire, Betley, Jason, Grocock, Russell James, Margulies, Elliott Harrison, Farrow, Emily Gwendolyn, Artman, Michael, Safina, Nicole Pauline, Petrikin, Joshua Erin, Hall, Kevin Peter, Kingsmore, Stephen Francis
Publicado no Sci Transl Med (2012)

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

Por 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
Publicado no Lancet Respir Med (2015)

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

Por 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.
Publicado no Sci Transl Med (2014)

An integrated clinico-metabolomic model improves prediction of death in sepsis

Por Langley, Raymond J., Tsalik, Ephraim L., van Velkinburgh, Jennifer C., Glickman, Seth W., Rice, Brandon J., Wang, Chunping, Chen, Bo, Carin, Lawrence, Suarez, Arturo, Mohney, Robert P., Freeman, Debra H., Wang, Mu, You, Jinsam, Wulff, Jacob, Thompson, J. Will, Moseley, M. Arthur, Reisinger, Stephanie, Edmonds, Brian T., Grinnell, Brian, Nelson, David R., Dinwiddie, Darrell L., Miller, Neil A., Saunders, Carol J., Soden, Sarah S., Rogers, Angela J., Gazourian, Lee, Fredenburgh, Laura E., Massaro, Anthony F., Baron, Rebecca M., Choi, Augustine M.K., Corey, G. Ralph, Ginsburg, Geoffrey S., Cairns, Charles B., Otero, Ronny M., Fowler, Vance G., Rivers, Emanuel P., Woods, Christopher W., Kingsmore, Stephen F.
Publicado em 2013