Search Results - "Hagelstrom, Tanner"

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease by Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.

“…Purpose Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome…”
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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes by Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., Kesari, Akanchha

“…We describe a family with two maternal half‐brothers both of whom presented with muscular dystrophy, autism spectrum disorder, developmental delay, and…”
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies by Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

“…Purpose Haploinsufficiency of USP7 , located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes,…”
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RNAi screening of the kinome with cytarabine in leukemias by Tibes, Raoul, Bogenberger, James M., Chaudhuri, Leena, Hagelstrom, R. Tanner, Chow, Donald, Buechel, Megan E., Gonzales, Irma M., Demuth, Tim, Slack, James, Mesa, Ruben A., Braggio, Esteban, Yin, Hongwei H., Arora, Shilpi, Azorsa, David O.

“…To identify rational therapeutic combinations with cytarabine (Ara-C), we developed a high-throughput, small-interference RNA (siRNA) platform for myeloid…”
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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome by Muirhead, Kayla J, Clause, Amanda R, Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L, Hagelstrom, R Tanner, Taft, Ryan J, Vanderver, Adeline

“…Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a…”
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Hyper telomere recombination accelerates replicative senescence and may promote premature aging by Hagelstrom, R. Tanner, Blagoev, Krastan B., Niedernhofer, Laura J., Goodwin, Edwin H., Bailey, Susan M., Onuchic, José N.

“…Werner syndrome and Bloom syndrome result from defects in the RecQ helicases Werner (WRN) and Bloom (BLM), respectively, and display premature aging…”
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Correlation between variant allele frequency and mean tumor molecules with tumor burden in patients with solid tumors by Kalashnikova, Ekaterina, Aushev, Vasily N., Malashevich, Allyson Koyen, Tin, Antony, Krinshpun, Shifra, Salari, Raheleh, Scalise, Carly Bess, Ram, Rosalyn, Malhotra, Meenakshi, Ravi, Harini, Sethi, Himanshu, Sanchez, Stephanie, Hagelstrom, Robert Tanner, Brevnov, Maxim, Rabinowitz, Matthew, Moshkevich, Solomon, Zimmermann, Bernhard G., Liu, Minetta C., Aleshin, Alexey

“…Several studies have demonstrated the prognostic value of circulating tumor DNA (ctDNA); however, the correlation of mean tumor molecules (MTM)/ml of plasma…”
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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico by Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.

“…Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in…”
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RNAi phenotype profiling of kinases identifies potential therapeutic targets in Ewing's sarcoma by Arora, Shilpi, Gonzales, Irma M, Hagelstrom, R Tanner, Beaudry, Christian, Choudhary, Ashish, Sima, Chao, Tibes, Raoul, Mousses, Spyro, Azorsa, David O

“…Ewing's sarcomas are aggressive musculoskeletal tumors occurring most frequently in the long and flat bones as a solitary lesion mostly during the teen-age…”
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial by Krantz, Ian D, Medne, Livija, Weatherly, Jamila M, Wild, K Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P, Abdul-Rahman, Omar, Euteneuer, Joshua C, Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J, Vargas-Shiraishi, Ofelia M, Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions, Wegner, Daniel J, Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J, Pivnick, Eniko K, Ward, Jewell C, Talati, Ajay, Brown, Chester W, Belmont, John W, Ortega, Julia L, Robinson, Keisha D, Brocklehurst, W Tyler, Perry, Denise L, Ajay, Subramanian S, Hagelstrom, R Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J

“…Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence…”
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A framework for the evaluation and reporting of incidental findings in clinical genomic testing by Brown, Carolyn M, Amendola, Laura M, Chandrasekhar, Anjana, Hagelstrom, R Tanner, Halter, Gillian, Kesari, Akanchha, Thorpe, Erin, Perry, Denise L, Taft, Ryan J, Coffey, Alison J

“…Currently, there are no widely accepted recommendations in the genomics field guiding the return of incidental findings (IFs), defined here as unexpected…”
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Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia by Akkari, Yassmine M.N., Bruyere, Helene, Hagelstrom, R. Tanner, Kanagal-Shamanna, Rashmi, Liu, Jie, Luo, Minjie, Mikhail, Fady M., Pitel, Beth A., Raca, Gordana, Shago, Mary, Shao, Lina, Smith, Lisa R., Smolarek, Teresa A., Yenamandra, Ashwini, Baughn, Linda B.

“…•This evidence-based review presents a detailed description of genomic aberrations in all categories of B-lymphoblastic leukemia including clinical outcomes,…”
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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers by Mori, Mari, Clause, Amanda R, Truxal, Kristen, Hagelstrom, R Tanner, Manickam, Kandamurugu, Kaler, Stephen G, Prasad, Vinay, Windster, Jonathan, Alves, Maria M, Di Lorenzo, Carlo

“…Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, a broad clinical spectrum,…”
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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations by Moysés‐Oliveira, Mariana, Giannuzzi, Giuliana, Fish, Richard J., Rosenfeld, Jill A., Petit, Florence, Soares, Maria de Fatima, Kulikowski, Leslie Domenici, Di‐Battista, Adriana, Zamariolli, Malú, Xia, Fan, Liehr, Thomas, Kosyakova, Nadezda, Carvalheira, Gianna, Parker, Michael, Seaby, Eleanor G., Ennis, Sarah, Gilbert, Rodney D., Hagelstrom, R. Tanner, Cremona, Maria L., Li, Wenhui L., Malhotra, Alka, Chandrasekhar, Anjana, Perry, Denise L., Taft, Ryan J., McCarrier, Julie, Basel, Donald G., Andrieux, Joris, Stumpp, Taiza, Antunes, Fernanda, Pereira, Gustavo José, Neerman‐Arbez, Marguerite, Meloni, Vera Ayres, Drummond‐Borg, Margaret, Melaragno, Maria Isabel, Reymond, Alexandre

“…We report five individuals with loss‐of‐function of the X‐linked AMMECR1: a girl with a balanced X‐autosome translocation and inactivation of the normal…”
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A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome by Baxter, Adrianne L., Vivian, Jay L., Hagelstrom, R. Tanner, Hossain, Waheeda, Golden, Wendy L., Wassman, E. Robert, Vanzo, Rena J., Butler, Merlin G.

“…Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by…”
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NCCN Guidelines Insights: Chronic Myeloid Leukemia, Version 1.2017 by Pallera, Arnel, Altman, Jessica K, Berman, Ellin, Abboud, Camille N, Bhatnagar, Bhavana, Curtin, Peter, DeAngelo, Daniel J, Gotlib, Jason, Hagelstrom, R Tanner, Hobbs, Gabriela, Jagasia, Madan, Kantarjian, Hagop M, Kropf, Patricia, Metheny, Leland, Moore, Joseph O, Ontiveros, Evelena, Purev, Enkhtsetseg, Quiery, Albert, Reddy, Vishnu V B, Rose, Michal G, Shah, Neil P, Smith, B Douglas, Snyder, David S, Sweet, Kendra L, Tibes, Raoul, Yang, David T, Gregory, Kristina, Sundar, Hema, Deininger, Michael, Radich, Jerald P

“…The NCCN Guidelines for Chronic Myeloid Leukemia (CML) provide recommendations for the management of chronic-phase and advanced-phase CML in adult patients…”
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Phenotypic and Imaging Spectrum Associated With WDR45 by Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline

“…Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow…”
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19. Evidence-based review of genomic aberrations in T-ALL: Strategy and progress of CGC T-ALL Working Group by Akkari, Yassmine, Baugn, Linda, Bruyere, Helene, Hagelstrom, Tanner, Pitel, Beth, Raca, Gordana, Smolarek, Teresa, Yenamandra, Ashwini, Meredith, Matthew

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43. Evidence-based review of genomic aberrations in pediatric B-Cell Acute Lymphoblastic Leukemia (B-ALL): Progress from Cancer Genomics Consortium (CGC) B-ALL Workgroup by Akkari, Yassmine, Baughn, Linda, Bruyere, Helene, Hagelstrom, Tanner, Kanagal-Shamanna, Rashmi, Luo, Minjie, Mikhail, Fady M., Pitel, Beth, Raca, Gordana, Shago, Mary, Shao, Lina, Smith, Lisa R., Smolarek, Teresa, Yenamandra, Ashwini, Hirsch, Betsy

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Synthetic Lethal RNAi Screen of the Human Kinome with Cytarabine in Myeloid Leukemias by Tibes, Raoul, Bogenberger, James, Hagelstrom, Tanner, Buechel, Megan E., Bhagavatula, Keertivibha, Choudhary, Ashish, Azrosa, David

“…Abstract 590 To improve response and increase the number of patients responding to Ara-C, new genes/mechanisms/pathways need to be discovered that underlie and…”
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