Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings von Willig, Laurel K, MD, Petrikin, Josh E, MD, Smith, Laurie D, MD, Saunders, Carol J, PhD, Thiffault, Isabelle, PhD, Miller, Neil A, BA, Soden, Sarah E, MD, Cakici, Julie A, BSN, Herd, Suzanne M, CCRC, Twist, Greyson, MS, Noll, Aaron, MS, Creed, Mitchell, MA, Alba, Patria M, MD, Carpenter, Shannon L, MD, Clements, Mark A, MD, Fischer, Ryan T, MD, Hays, J Allyson, MD, Kilbride, Howard, Prof, McDonough, Ryan J, DO, Rosterman, Jamie L, DO, Tsai, Sarah L, MD, Zellmer, Lee, MS, Farrow, Emily G, PhD, Kingsmore, Stephen F, Prof

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GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant von Giddens, Michelle M., Wong, Jennifer C., Schroeder, Jason P., Farrow, Emily G., Smith, Brilee M., Owino, Sharon, Soden, Sarah E., Meyer, Rebecca C., Saunders, Carol, LePichon, J.B., Weinshenker, David, Escayg, Andrew, Hall, Randy A.

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A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence von Leeder, J. Steven, Gaedigk, Andrea, Wright, Krista J., Staggs, Vincent S., Soden, Sarah E., Lin, Yvonne S., Pearce, Robin E.

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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences von 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

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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing von Dinwiddie, Darrell L., Bracken, Julia M., Bass, Julie A., Christenson, Kathy, Soden, Sarah E., Saunders, Carol J., Miller, Neil A., Singh, Vivekanand, Zwick, David L., Roberts, Charles C., Dalal, Jignesh, Kingsmore, Stephen F.

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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases von 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

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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome von 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.

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The Future of Next-Generation Sequencing in Neurology von LePichon, Jean-Baptiste, Saunders, Carol J, Soden, Sarah E

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De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies von Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F

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Clinical and Pharmacologic Considerations for Guanfacine Use in Very Young Children von Black, Benjamin T, Soden, Sarah E, Kearns, Gregory L, Jones, Bridgette L

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In vivo characterization of CYP2D612, 29 and 84 using dextromethorphan as a probe drug: a case report von Gaedigk, Andrea, Twist, Greyson P, Farrow, Emily G, Lowry, Jennifer A, Soden, Sarah E, Miller, Neil A

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Next-generation community genetics for low- and middle-income countries von Kingsmore, Stephen F, Lantos, John D, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Farrow, Emily G, Saunders, Carol J

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24-Hour Provoked Urine Excretion Test for Heavy Metals in Children with Autism and Typically Developing Controls, a Pilot Study von Soden, Sarah E., Lowry, Jennifer A., Garrison, Carol B., Wasserman, Gary S.

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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences von 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

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Loss of brain‐expressed receptors GPR37 and/or GPR37L1 results in increased seizure susceptibility to induced seizures von Giddens, Michelle M, Wong, Jennifer C, Coleman, Brilee M, Schroeder, Jason P, Farrow, Emily G, Soden, Sarah E, Weinshenker, David, Escayg, Andrew, Hall, Randy A

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Exome Sequencing Reveals Cause of Hypomyelinating Leukodystrophy von Darrell L. Dinwiddie, Neil A. Miller, Carol J. Saunders, Sarah E. Soden, Emily G. Farrow, Grace M. Hobson, Stephen F. Kingsmore

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A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay von KNAPP, JANE F, SODEN, SARAH E, DASOUKI, MAJED J, WALSH, IRENE R

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De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies von Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F

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Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences von 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

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Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine von Darrell L. Dinwiddie, Carol J. Saunders, Emily G. Farrow, Sarah E. Soden, Neil A. Miller, Stephen F. Kingsmore

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