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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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6 , from whole-genome sequences
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
Published in Npj genomic medicine (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
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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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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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Clinical detection of deletion structural variants in whole-genome sequences
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
Published in Npj genomic medicine (03.08.2016)
Published in Npj genomic medicine (03.08.2016)
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Journal Article
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
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
Published in Npj genomic medicine (11.01.2017)
Published in Npj genomic medicine (11.01.2017)
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Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6 , from whole-genome sequences
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
Published in Npj genomic medicine (2017)
Published in Npj genomic medicine (2017)
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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, Willig, Laurel, Sweeney, Nathaly, Farrow, Emily, Saunders, Carol, Thiffault, Isabelle, Miller, Neil, Zellmer, Lee, Herd, Suzanne, Holmes, Anne, Batalov, Serge, Veeraraghavan, Narayanana, Smith, Laurie, Dimmock, David, Leeder, Steven, Kingsmore, Stephen F
Published in bioRxiv (13.11.2017)
Published in bioRxiv (13.11.2017)
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