Search Results - "Dawson, D Brian"

Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost? by Swaggart, Kayleigh A., Swarr, Daniel T., Tolusso, Leandra K., He, Hua, Dawson, D. Brian, Suhrie, Kristen R.

“…To investigate the prevalence of genetic disease and its economic impact in a level IV neonatal intensive care unit (NICU) by identifying and describing…”
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy by Wang, Wei, Wang, Chen, Dawson, D Brian, Thorland, Erik C, Lundquist, Patrick A, Eckloff, Bruce W, Wu, Yanhong, Baheti, Saurabh, Evans, Jared M, Scherer, Steven S, Dyck, Peter J, Klein, Christopher J

“…OBJECTIVE:To assess the efficiency of target-enrichment next-generation sequencing (NGS) with copy number assessment in inherited neuropathy diagnosis…”
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Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome by Nasomyont, Nat, Lindsley, Andrew W, Assa’ad, Amal, Dawson, D Brian, Neilson, Derek E, Brady, Cassandra C, Rutter, Meilan M

“…Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a recently described, rare disorder characterized by anterior pituitary…”
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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome by Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian R., Dawson, Brian D., Harris, Peter C., for the CRISP Consortium

“…Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect…”
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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients by Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

“…Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome…”
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Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis by MONICO, Carla G, ROSSETTI, Sandro, SCHWANZ, Heidi A, OLSON, Julie B, LUNDQUIST, Patrick A, BRIAN DAWSON, D, HARRIS, Peter C, MILLINER, Dawn S

“…Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of liver-specific alanine:glyoxylate aminotransferase (AGT), the metabolic error in type 1…”
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Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region by Aypar, Umut, Brodersen, Pamela R., Lundquist, Patrick A., Dawson, D. Brian, Thorland, Erik C., Hoppman, Nicole

“…Deletion of 15q11.2‐q13 results in either Prader–Willi syndrome (PWS) or Angelman syndrome (AS) depending on the parent of origin. Duplication of the PWS/AS…”
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Liver transplant-associated graft-versus-host disease by SMITH, Douglas M, AGURA, Edward, MCCORMACK, Jeff, FICHTEL, Lisa, DAWSON, D. Brian, DOMIATI-SAAD, Rana, STONE, Marvin, KLINTMALM, Goran, NETTO, George, COLLINS, Robert, LEVY, Marlon, GOLDSTEIN, Robert, CHRISTENSEN, Laura, BAKER, Judy, ALTRABULSI, Basel, OSOWSEI, Lori

“…Graft-versus-host disease (GVHD) is an important, underdiagnosed cause of mortality associated with liver transplantation. We identified 12 cases of GVHD among…”
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Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center by Xu, Xinxiu, Denton, James, Wu, Yaning, Liu, Jie, Guan, Qiaoning, Dawson, D. Brian, Bleesing, Jack, Zhang, Wenying

“…Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder featuring chronic lymphadenopathy, splenomegaly, cytopenias, and increased lymphoma…”
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Neonatal Lung Disease Associated with TBX4 Mutations by Suhrie, Kristen, Pajor, Nathan M., Ahlfeld, Shawn K., Dawson, D. Brian, Dufendach, Kevin R., Kitzmiller, Joseph A., Leino, Daniel, Lombardo, Rachel C., Smolarek, Teresa A., Rathbun, Pamela A., Whitsett, Jeffrey A., Towe, Christopher, Wikenheiser-Brokamp, Kathryn A.

“…Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These…”
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Implementation of CYP2D6-guided opioid therapy at Cincinnati Children’s Hospital Medical Center by Ramsey, Laura B, Prows, Cynthia A, Chidambaran, Vidya, Sadhasivam, Senthilkumar, Quinn, Charles T, Teusink-Cross, Ashley, Tang Girdwood, Sonya, Dawson, D Brian, Vinks, Alexander A, Glauser, Tracy A

“…Abstract Purpose We describe the implementation of CYP2D6-focused pharmacogenetic testing to guide opioid prescribing in a quaternary care, nonprofit pediatric…”
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Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center by Du, Xiaoli, Glass, Jennifer Elaine, Balow, Stephanie, Dyer, Lisa M., Rathbun, Pamela A., Guan, Qiaoning, Liu, Jie, Wu, Yaning, Dawson, D. Brian, Walters-Sen, Lauren, Smolarek, Teresa A., Zhang, Wenying

“…Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for…”
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Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project by Pratt, Victoria M, Turner, Amy, Broeckel, Ulrich, Dawson, D Brian, Gaedigk, Andrea, Lynnes, Ty C, Medeiros, Elizabeth B, Moyer, Ann M, Requesens, Deborah, Vetrini, Francesco, Kalman, Lisa V

“…Pharmacogenetic testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other…”
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Development of Real-Time PCR Assays for the Quantitative Detection of Epstein-Barr Virus and Cytomegalovirus, Comparison of TaqMan Probes, and Molecular Beacons by Jebbink, Jiska, Bai, Xin, Rogers, Beverly Barton, Dawson, D. Brian, Scheuermann, Richard H., Domiati-Saad, Rana

“…Human Epstein-Barr virus (EBV) and cytomegalovirus (CMV) can cause serious complications in immunocompromised patients. Rapid diagnosis of EBV and CMV…”
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Quantitative polymerase chain reaction for human herpesvirus diagnosis and measurement of Epstein–Barr virus burden in posttransplant lymphoproliferative disorder by Bai, Xin, Hosler, Gregory, Rogers, Beverly Barton, Dawson, D. Brian, Scheuermann, Richard H

“…Human herpesviruses can cause acute diseases such as chicken pox or mononucleosis, but also may reactivate during immunosuppression and result in severe or…”
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A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology by Aisner, Dara L, Berry, Anna, Dawson, D Brian, Hayden, Randall T, Joseph, Loren, Hill, Charles E

“…Molecular pathology is an essential element of pathology training. As more molecular tests have become available, there is an increasing need for pathology…”
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Primary effusion lymphomas exhibit complex and recurrent cytogenetic abnormalities by Wilson, Kathleen S., McKenna, Robert W., Kroft, Steven H., Dawson, D. Brian, Ansari, Qasim, Schneider, Nancy R.

“…Cytogenetic findings in a few primary effusion lymphoma (PEL) cell lines have been reported, but only three complete karyotypes of primary specimens from…”
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Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience by Hofherr, Sean E., Wiktor, Anne E., Kipp, Benjamin R., Dawson, D. Brian, Van Dyke, Daniel L.

“…Purpose Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up…”
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Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping by Snyder, Melissa R, Katzmann, Jerry A, Butz, Malinda L, Wiley, Carmen, Yang, Ping, Dawson, D Brian, Halling, Kevin C, Highsmith, W Edward, Thibodeau, Stephen N

“…Laboratory testing in suspected alpha-1-antitrypsin (A1AT) deficiency involves analysis of A1AT concentrations and identification of specific alleles by…”
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Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features by Aypar, Umut, Hoppman, Nicole L, Thorland, Erik C, Dawson, D Brian

“…Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on…”
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