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

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database

Por Gaedigk, Andrea, Ingelman‐Sundberg, Magnus, Miller, Neil A., Leeder, J. Steven, Whirl‐Carrillo, Michelle, Klein, Teri E.
Publicado no Clin Pharmacol Ther (2017)

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

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)

C6/36 Aedes albopictus Cells Have a Dysfunctional Antiviral RNA Interference Response

Por Brackney, Doug E., Scott, Jaclyn C., Sagawa, Fumihiko, Woodward, Jimmy E., Miller, Neil A., Schilkey, Faye D., Mudge, Joann, Wilusz, Jeffrey, Olson, Ken E., Blair, Carol D., Ebel, Gregory D.
Publicado em 2010

Alström Syndrome: Mutation spectrum of ALMS1

Por Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
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)

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)

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

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Por Bell, Callum J., Dinwiddie, Darrell L., Miller, Neil A., Hateley, Shannon L., Ganusova, Elena E., Mudge, Joann, Langley, Ray J., Zhang, Lu, Lee, Clarence C., Schilkey, Faye D., Sheth, Vrunda, Woodward, Jimmy E., Peckham, Heather E., Schroth, Gary P., Kim, Ryan W., Kingsmore, Stephen F.
Publicado em 2011

Transcriptome sequencing of malignant pleural mesothelioma tumors

Por Sugarbaker, David J., Richards, William G., Gordon, Gavin J., Dong, Lingsheng, De Rienzo, Assunta, Maulik, Gautam, Glickman, Jonathan N., Chirieac, Lucian R., Hartman, Mor-Li, Taillon, Bruce E., Du, Lei, Bouffard, Pascal, Kingsmore, Stephen F., Miller, Neil A., Farmer, Andrew D., Jensen, Roderick V., Gullans, Steven R., Bueno, Raphael
Publicado em 2008

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)

Management of High-Throughput DNA Sequencing Projects: Alpheus

Por Miller, Neil A., Kingsmore, Stephen F., Farmer, Andrew, Langley, Raymond J., Mudge, Joann, Crow, John A., Gonzalez, Alvaro J., Schilkey, Faye D., Kim, Ryan J., van Velkinburgh, Jennifer, May, Gregory D., Black, C. Forrest, Myers, M. Kathy, Utsey, John P., Frost, Nicholas S., Sugarbaker, David J., Bueno, Raphael, Gullans, Stephen R., Baxter, Susan M., Day, Steve W., Retzel, Ernest F.
Publicado em 2008

Renal systems biology of patients with systemic inflammatory response syndrome

Por Tsalik, Ephraim L., Willig, Laurel K., Rice, Brandon J., van Velkinburgh, Jennifer C., Mohney, Robert P., McDunn, Jonathan, Dinwiddie, Darrell L., Miller, Neil A., Mayer, Eric, Glickman, Seth W., Jaehne, Anja K., Glew, Robert H., Sopori, Mohan L., Otero, Ronny M., Harrod, Kevin S., Cairns, Charles B., Fowler, Vance G., Rivers, Emanuel P., Woods, Christopher W., Kingsmore, Stephen F., Langley, Raymond J.
Publicado no Kidney Int (2015)

An integrated transcriptome and expressed variant analysis of sepsis survival and death

Por Tsalik, Ephraim L, Langley, Raymond J, Dinwiddie, Darrell L, Miller, Neil A, Yoo, Byunggil, van Velkinburgh, Jennifer C, Smith, Laurie D, Thiffault, Isabella, Jaehne, Anja K, Valente, Ashlee M, Henao, Ricardo, Yuan, Xin, Glickman, Seth W, Rice, Brandon J, McClain, Micah T, Carin, Lawrence, 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 no Genome Med (2014)

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)