Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

Por Kingsmore, Stephen F., Saunders, Carol J.
Publicado no Sci Transl Med (2011)

Variation among Consent Forms for Clinical Whole Exome Sequencing

Por Fowler, Sara A., Saunders, Carol J., Hoffman, Mark A.
Publicado no J Genet Couns (2017)

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

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

Hemoglobin Lake Tapawingo [α46 (CE4)Phe→Ser; HBA2:c.140T>C]: a New Unstable α Chain Hemoglobin Variant Associated with Low Systemic Arterial Saturation

Por Guest, Erin M., Neville, Kathleen A., Hoyer, James D., Safo, Martin K., Garg, Uttam, Saunders, Carol J., Abdulmalik, Osheiza, Zwick, David L.
Publicado em 2011

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)

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Por Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D’Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G., Thiffault, Isabelle, Saunders, Carol J., Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio
Publicado no Front Immunol (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)

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse

Por Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Publicado no Hum Mutat (2015)

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 no NPJ Genom Med (2016)

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections

Por Dinwiddie, Darrell L., Kingsmore, Stephen F., Caracciolo, Sonia, Rossi, Giuseppe, Moratto, Daniele, Mazza, Cinzia, Sabelli, Cristiano, Bacchetta, Rosa, Passerini, Laura, Magri, Chiara, Bell, Callum J., Miller, Neil A., Hateley, Shannon L., Saunders, Carol J., Zhang, Lu, Schroth, Gary P., Barlati, Sergio, Badolato, Raffaele
Publicado em 2013

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 no NPJ Genom Med (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 no Genome Med (2015)

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)

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Por Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco
Publicado no Am J Hum Genet (2016)

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Por Guimier, Anne, Gabriel, George C., Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D., Klena, Nikolai T., Jimenez, Gina, Miller, Neil A., Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J., Baker, Candice N., Di Filippo, Sylvie, Peterson, Kevin A., Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D., Farrow, Emily G., Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A., Bonnet, Damien, Kingsmore, Stephen F., Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W., Gordon, Christopher T.
Publicado no Nat Genet (2015)

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