The Evolution of PharmVar
Gaedigk, Andrea, Sangkuhl, Katrin, Whirl‐Carrillo, Michelle, Twist, Greyson P., Klein, Teri E., Miller, Neil A.
Published in Clinical pharmacology and therapeutics (01.01.2019)
Published in Clinical pharmacology and therapeutics (01.01.2019)
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Journal Article
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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Journal Article
Developmental Expression of CYP2B6: A Comprehensive Analysis of mRNA Expression, Protein Content and Bupropion Hydroxylase Activity and the Impact of Genetic Variation
Pearce, Robin E, Gaedigk, Roger, Twist, Greyson P, Dai, Hongying, Riffel, Amanda K, Leeder, J Steven, Gaedigk, Andrea
Published in Drug metabolism and disposition (01.07.2016)
Published in Drug metabolism and disposition (01.07.2016)
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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 (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
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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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Journal Article
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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Journal Article
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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Journal Article
High-resolution melt analysis to detect sequence variations in highly homologous gene regions: application to
Twist, Greyson P, Gaedigk, Roger, Leeder, J Steven, Gaedigk, Andrea
Published in Pharmacogenomics (01.06.2013)
Published in Pharmacogenomics (01.06.2013)
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Journal Article
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee, Kingsmore, Stephen F, Safina, Nicole P
Published in BMC medical genetics (07.05.2015)
Published in BMC medical genetics (07.05.2015)
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Journal Article
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 (11.01.2017)
Published in Npj genomic medicine (11.01.2017)
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Journal Article