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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PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant von Thiffault, Isabelle, Farrow, Emily, Smith, Laurie, Lowry, Jennifer, Zellmer, Lee, Black, Benjamin, Abdelmoity, Ahmed, Miller, Neil, Soden, Sarah, Saunders, Carol

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease von Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A, Saunders, Carol

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Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report von Cadieux-Dion, Maxime, Safina, Nicole P, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

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P551: GATEways to improved test utilization: Opening doors and building bridges von Zellmer, Lee, Rindler, Mary, Humphrey, Maggie, Roberts, Jennifer, Rush, Eric, Nolen, JD, Herriges, John, Hall, Ara, Amudhavalli, Shivarajan, Saunders, Carol

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P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center von Thiffault, Isabelle, Alaimo, Joseph, Paolillo, Vitoria, Del Viso, Florencia, Cohen, Ana, Farrow, Emily, Starling, Susan, Humphrey, Maggie, Schwager, Caitlin, Bartik, Lauren, Engleman, Kendra, Cross, Laura, Welsh, Holly, Rush, Eric, Amudhavalli, Shivarajan, Sullivan, Bonnie, Zhou, Dihong, Shaffer, Elizabeth, Baig, Waseem, Zellmer, Lee, Rindler, Mary, Zion, Tricia, Boillat, Emelia, Pastinen, Tomi, Saunders, Carol

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Clinical genome sequencing in an unbiased pediatric cohort von Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol

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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants von 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.

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Multisite, Double-Blind, Placebo-Controlled Trial of Porcine Secretin in Autism von OWLEY, THOMAS, MCMAHON, WILLIAM, COOK, EDWIN H., LAULHERE, TRACY, SOUTH, MIKLE, MAYS, LEE ZELLMER, SHERNOFF, ELISA S., LAINHART, JANET, MODAHL, CHARLOTTE B., CORSELLO, CHRISTINA, OZONOFF, SALLY, RISI, SUSAN, LORD, CATHERINE, LEVENTHAL, BENNETT L., FILIPEK, PAULINE A.

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eP387 - Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38 von Lansdon, Lisa, Cadieux-Dion, Maxime, Yoo, Byunggil, Miller, Neil, Cohen, Ana S.A., Zellmer, Lee, Zhang, Lei, Farrow, Emily, Thiffault, Isabelle, Repnikova, Elena, Cooley, Linda, Alaimo, Joseph, Porath, Binu, Herriges, John, Saunders, Carol, Farooqi, Midhat

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Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38 von Lansdon, Lisa, Cadieux-Dion, Maxime, Yoo, Byunggil, Miller, Neil, Cohen, Ana S.A., Zellmer, Lee, Zhang, Lei, Farrow, Emily, Thiffault, Isabelle, Repnikova, Elena, Cooley, Linda, Alaimo, Joseph, Porath, Binu, Herriges, John, Saunders, Carol, Farooqi, Midhat

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Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing von Lansdon, Lisa A., Cadieux-Dion, Maxime, Yoo, Byunggil, Miller, Neil, Cohen, Ana S.A., Zellmer, Lee, Zhang, Lei, Farrow, Emily G., Thiffault, Isabelle, Repnikova, Elena A., Cooley, Linda D., Alaimo, Joseph T., Porath, Binu, Herriges, John C., Saunders, Carol J., Farooqi, Midhat S.

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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes von 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

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Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing von Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A, Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol

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Additional file 2: of Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report von Cadieux-Dion, Maxime, Safina, Nicole, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

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Additional file 1: of Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report von Cadieux-Dion, Maxime, Safina, Nicole, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

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Additional file 3: of Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report von Cadieux-Dion, Maxime, Safina, Nicole, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

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Additional file 1: Table S1. of Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease von Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert, Saunders, Carol

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Temporal variations of gas compositions of fumaroles in the Tatun Volcano Group, northern Taiwan von Lee, Hsiao-Fen, Yang, Tsanyao Frank, Lan, Tefang Faith, Chen, Cheng-Hong, Song, Sheng-Rong, Tsao, Shuhjong

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ASHP Foundation Pharmacy Forecast 2018: Strategic Planning Advice for Pharmacy Departments in Hospitals and Health Systems von Vermeulen, Lee C, Kolesar, Jill, Crismon, M Lynn, Flynn, Allen J, Stevenson, James G, Almeter, Philip J, Heath, W Mike, Short, G Tyler, Enright, Sharon Murphy, Ploetz, Pam, Swarthout, Meghan D, Zellmer, William A, Saenz, Rafael, Devereaux, Debra S, Zilz, David A, Hoffman, James M, Evans, William E, Knoer, Scott J, Ray, Max D

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