Techniques and Approaches to Genetic Analyses in Nephrological Disorders

Por Willig, Laurel K.
Publicado no J Pediatr Genet (2015)

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Por Smith, Laurie D., Willig, Laurel K., Kingsmore, Stephen F.
Publicado no Cold Spring Harb Perspect Med (2016)

Emergency medical genomes: a breakthrough application of precision medicine

Por Kingsmore, Stephen F., Petrikin, Josh, Willig, Laurel K., Guest, Erin
Publicado no Genome Med (2015)

Rapid Whole Genome Sequencing and Precision Neonatology

Por Petrikin, Joshua E., Willig, Laurel K., Smith, Laurie D., Kingsmore, Stephen F.
Publicado no Semin Perinatol (2015)

Outcomes of infants receiving chronic peritoneal dialysis: an analysis of the USRDS registry

Por Sanderson, Keia R., Yu, Yichun, Dai, Hongying, Willig, Laurel K., Warady, Bradley A.
Publicado no Pediatr Nephrol (2018)

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)

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)

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)

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)

Newborn Sequencing in Genomic Medicine and Public Health

Por Berg, Jonathan S., Agrawal, Pankaj B., Bailey, Donald B., Beggs, Alan H., Brenner, Steven E., Brower, Amy M., Cakici, Julie A., Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J., Dukhovny, Dmitry, Green, Robert C., Harris-Wai, Julie, Holm, Ingrid A., Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F., Koenig, Barbara A., Kwok, Pui-Yan, Lantos, John, Leeder, Steven J., Lewis, Megan A., McGuire, Amy L., Milko, Laura V., Mooney, Sean D., Parad, Richard B., Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C., Powell, Cynthia M., Puck, Jennifer M., Rehm, Heidi L., Risch, Neil, Roche, Myra, Shieh, Joseph T., Veeraraghavan, Narayanan, Watson, Michael S., Willig, Laurel, Yu, Timothy W., Urv, Tiina, Wise, Anastasia L.
Publicado no Pediatrics (2017)