Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
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
Published in Science translational medicine (03.12.2014)
Published in Science translational medicine (03.12.2014)
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Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
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
Published in The lancet respiratory medicine (01.05.2015)
Published in The lancet respiratory medicine (01.05.2015)
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3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
Sass, Jörn Oliver, Walter, Melanie, Shield, Julian P. H., Atherton, Andrea M., Garg, Uttam, Scott, David, Woods, C. Geoffrey, Smith, Laurie D.
Published in Journal of inherited metabolic disease (01.05.2012)
Published in Journal of inherited metabolic disease (01.05.2012)
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
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
Published in Genome medicine (30.09.2015)
Published in Genome medicine (30.09.2015)
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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
Buelow, Markus, Süßmuth, David, Smith, Laurie D, Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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Journal Article
The role of sterol-C4-methyl oxidase in epidermal biology
He, Miao, Smith, Laurie D., Chang, Richard, Li, Xueli, Vockley, Jerry
Published in Biochimica et biophysica acta (01.03.2014)
Published in Biochimica et biophysica acta (01.03.2014)
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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
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.
Published in Npj genomic medicine (09.02.2018)
Published in Npj genomic medicine (09.02.2018)
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Journal Article
Response to Grosse et al
Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
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
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
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.
Published in Genomics (San Diego, Calif.) (01.09.2013)
Published in Genomics (San Diego, Calif.) (01.09.2013)
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Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
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.
Published in Human mutation (01.03.2015)
Published in Human mutation (01.03.2015)
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Journal Article
An integrated transcriptome and expressed variant analysis of sepsis survival and death
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, Jr, Vance G, Rivers, Emanuel P, Woods, Christopher W, Kingsmore, Stephen F
Published in Genome medicine (26.11.2014)
Published in Genome medicine (26.11.2014)
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Journal Article
An ethical framework for responding to drug shortages in pediatric oncology
Beck, Jill C., Smith, Laurie D., Gordon, Bruce G., Garrett, Jeremy R.
Published in Pediatric blood & cancer (01.06.2015)
Published in Pediatric blood & cancer (01.06.2015)
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Journal Article
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F
Published in BMC medical genomics (17.09.2013)
Published in BMC medical genomics (17.09.2013)
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Journal Article
Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome
Couser, Natario L., Marchuk, Daniel S., Smith, Laurie D., Arreola, Alexandra, Kaiser‐Rogers, Kathleen A., Muenzer, Joseph, Pandya, Arti, Gucsavas‐Calikoglu, Muge, Powell, Cynthia M.
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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