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Your search keyword '"Geddes, Gabrielle C."' showing total 45 results
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45 results on '"Geddes, Gabrielle C."'

1. Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery

Author

Landis, Benjamin J., Helm, Benjamin M., Durbin, Matthew D., Helvaty, Lindsey R., Herrmann, Jeremy L., Johansen, Michael, Geddes, Gabrielle C., and Ware, Stephanie M.

Abstract

To the Editor: While many consider it well established that a genetic diagnosis portends a poor outcome in patients with congenital heart defects (CHDs), prior data have been confounded by [...]

Published
2024

2. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Author

Huth, Emily A., Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N., Vogel, Ida, Dorf, Inger L. H., Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J., Louw, Jacoba J., Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y., Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S., Rankin, Julia, Helvaty, Lindsey R., Landis, Benjamin J., Geddes, Gabrielle C., McBride, Kim L., Ware, Stephanie M., Shaw, Chad A., Lalani, Seema R., Rosenfeld, Jill A., and Scott, Daryl A.

Published
2023
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5. A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

Author

Durbin, Matthew D., Helvaty, Lindsey R., Li, Ming, Border, William, Fitzgerald-Butt, Sara, Garg, Vidu, Geddes, Gabrielle C., Helm, Benjamin M., Lalani, Seema R., McBride, Kim L., McEntire, Alexis, Mitchell, Dana K., Murali, Chaya N., Wechsler, Stephanie B., Landis, Benjamin J., and Ware, Stephanie M.

Published
2023
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9. Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects

Author

Durbin, Matthew D., primary, Helvaty, Lindsey R., additional, Posorske, Alyx, additional, Zhang, Samuel, additional, Huang, Manyan, additional, Li, Ming, additional, Abreu, Daniel, additional, Fairman, Korre, additional, Geddes, Gabrielle C., additional, Helm, Benjamin M., additional, Landis, Benjamin J., additional, McEntire, Alexis, additional, Mitchell, Dana K., additional, and Ware, Stephanie M., additional

Published
2024
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10. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Author

Landis, Benjamin J., primary, Helvaty, Lindsey R., additional, Geddes, Gabrielle C., additional, Lin, Jiuann‐Huey Ivy, additional, Yatsenko, Svetlana A., additional, Lo, Cecilia W., additional, Border, William L., additional, Wechsler, Stephanie Burns, additional, Murali, Chaya N., additional, Azamian, Mahshid S., additional, Lalani, Seema R., additional, Hinton, Robert B., additional, Garg, Vidu, additional, McBride, Kim L., additional, Hodge, Jennelle C., additional, and Ware, Stephanie M., additional

Published
2023
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12. Abstract 16552: Chromosomal Microarray Abnormalities in More Than 1300 Patients With Congenital Heart Disease Provide Novel Clinical and Etiological Insights

Author

Landis, Benjamin J, Elmore, Lindsey R, Geddes, Gabrielle C, Lin, Jiuann-huey I, Yatsenko, Svetlana A, Lo, Cecilia W, Bleyl, Steven B, Border, William L, Wechsler, Stephanie B, Murali, Chaya N, Lalani, Seema R, Hinton, Robert B, Garg, Vidu, McBride, Kim L, Hodge, Jennelle C, and Ware, Stephanie M

Published
2020
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15. Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

Author

Landis, Benjamin J., primary, Helm, Benjamin M., additional, Herrmann, Jeremy L., additional, Hoover, Madeline C., additional, Durbin, Matthew D., additional, Elmore, Lindsey R., additional, Huang, Manyan, additional, Johansen, Michael, additional, Li, Ming, additional, Przybylowski, Leon F., additional, Geddes, Gabrielle C., additional, and Ware, Stephanie M., additional

Published
2022
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20. Additional file 1 of A multi-disciplinary, comprehensive approach to management of children with heterotaxy

Author

Saba, Thomas G., Geddes, Gabrielle C., Ware, Stephanie M., Schidlow, David N., del Nido, Pedro J., Rubalcava, Nathan S., Gadepalli, Samir K., Stillwell, Terri, Griffiths, Anne, Bennett Murphy, Laura M., Barber, Andrew T., Leigh, Margaret W., Sabin, Necia, and Shapiro, Adam J.

Abstract

Additional file 1: Known genetic syndromes with heterotaxy in the phenotype.

Published
2022
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24. Cover

Author

Samudrala, Sai Suma K., primary, North, Lauren M., additional, Stamm, Karl D., additional, Earing, Michael G., additional, Frommelt, Michele A., additional, Willes, Richard, additional, Tripathi, Swarnendu, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T., additional, Mahnke, Donna K., additional, Liang, Huan Ling, additional, Lund, Michael, additional, Lin, Chien‐Wei, additional, Geddes, Gabrielle C., additional, Mitchell, Michael E., additional, and Tomita‐Mitchell, Aoy, additional

Published
2020
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26. Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

Author

Samudrala, Sai Suma K., primary, North, Lauren M., additional, Stamm, Karl D., additional, Earing, Michael G., additional, Frommelt, Michele A., additional, Willes, Richard, additional, Tripathi, Swarnendu, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T., additional, Mahnke, Donna K., additional, Liang, Huan Ling, additional, Lund, Michael, additional, Lin, Chien‐Wei, additional, Geddes, Gabrielle C., additional, Mitchell, Michael E., additional, and Tomita‐Mitchell, Aoy, additional

Published
2020
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33. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

Author

Peterson, Jess F., primary, Bick, David P., additional, Geddes, Gabrielle C., additional, McCarrier, Julie, additional, Grignon, John W., additional, Chirempes, Brett, additional, Broeckel, Ulrich, additional, Abidi, Fatima, additional, Rogers, Richard C., additional, Boccuto, Luigi, additional, DuPont, Barbara, additional, and vanTuinen, Peter, additional

Published
2016
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35. BAG3 myofibrillar myopathy presenting with cardiomyopathy

Author

Konersman, Chamindra G., primary, Bordini, Brett J., additional, Scharer, Gunter, additional, Lawlor, Michael W., additional, Zangwill, Steven, additional, Southern, James F., additional, Amos, Louella, additional, Geddes, Gabrielle C., additional, Kliegman, Robert, additional, and Collins, Michael P., additional

Published
2015
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41. Physiological characterization of stolon regression in a colonial hydroid.

Author

Cherry Vogt, Kimberly S., Geddes, Gabrielle C., Bross, Lori S., and Blackstone, Neil W.

Subjects
*REGRESSION analysis, *COLONIZATION, *NONMETALS, *DEATH (Biology), *ELECTRON microscopy, *MICROSCOPY, *COLONIAL animals (Marine invertebrates), *REACTIVE oxygen species, *PHOTOSYNTHETIC oxygen evolution
Abstract

As with many colonial animals, hydractiniid hydroids display a range of morphological variation. Sheet-like forms exhibit feeding polyps close together with short connecting stolons, whereas runner-like forms have more distant polyps and longer connecting stolons. These morphological patterns are thought to derive from rates of stolon growth and polyp formation. Here, stolon regression is identified and characterized as a potential process underlying this variation. Typically, regression can be observed in a few stolons of a normally growing colony. For detailed studies, many stolons of a colony can be induced to regress by pharmacological manipulations of reactive oxygen species (e.g. hydrogen peroxide) or reactive nitrogen species (e.g. nitric oxide). The regression process begins with a cessation of gastrovascular flow to the distal part of the stolon. High levels of endogenous H2O2 and NO then accumulate in the regressing stolon. Remarkably, exogenous treatments with either H2O2 or an NO donor equivalently trigger endogenous formation of both H2O2 and NO. Cell death during regression is suggested by both morphological features, detected by transmission electron microscopy, and DNA fragmentation, detected by TUNEL. Stolon regression may occur when colonies detect environmental signals that favor continued growth in the same location rather than outward growth. [ABSTRACT FROM AUTHOR]

Published
2008
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42. Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.

Author

Durbin MD, Helvaty LR, Posorske A, Zhang S, Huang M, Li M, Abreu D, Fairman K, Geddes GC, Helm BM, Landis BJ, McEntire A, Mitchell DK, and Ware SM

Abstract

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic etiology and recent studies demonstrate utility in genetic testing. In clinical practice, decisions around genetic testing choices continue to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD has not been well studied. Though smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation. We analyze genetic testing in CHD at two time-points, in 2018 and 2022-2023, across a change in clinical testing guidelines from chromosome microarray (CMA) to rGS. Analysis of 421 hospitalized infants with CHD demonstrated consistent genetic testing across time. Overall, after incorporation of rGS in 2022-2023, the diagnostic yield was 6.8% higher compared to 2018, and this pattern was consistent across all patient subtypes analyzed. In 2018, CMA was the most common test performed, with diagnostic results for CHD in 14.3%, while in 2022-2023, rGS was the most frequent test performed, with results diagnostic for CHD in 16.9%. Additionally, rGS identified 44% more unique genetic diagnoses than CMA. This is the largest study to highlight the value of rGS in CHD and has important implications for management., Competing Interests: Competing Interest: Authors declare there is no competing financial interests in relation to the work desribed.

Published
2024
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43. Language regression, hemichorea and focal subclinical seizures in a 6-year-old girl with GLUT-1 deficiency.

Author

Wood AM, Geddes GC, and Marashly A

Abstract

•A 6 year old girl with progressive speech difficulties, new abnormal movements, olfactory hallucinations•Choreiform movement of her right hemibody along with her face and tongue•Seizures were noted during sleep without clinical correlate, progressing to awake subclinical seizures., Competing Interests: Dr. Alexandra Wood declarations of interest: none. Dr. Ahmad Marashly declaration of interest: none. Dr. Gabrielle Geddes declaration of interest: none., (© 2019 Published by Elsevier Inc.)

Published
2019
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44. A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.

Author

Dsouza NR, Zimmermann MT, and Geddes GC

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple pathology, Face pathology, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital pathology, Heart Diseases congenital, Heart Diseases diagnosis, Heart Diseases pathology, Humans, Infant, Newborn, Intellectual Disability diagnosis, Intellectual Disability pathology, Male, Micrognathism diagnosis, Micrognathism pathology, Mutation, Neck pathology, Abnormalities, Multiple genetics, DNA Helicases genetics, Face abnormalities, Hand Deformities, Congenital genetics, Heart Diseases genetics, Intellectual Disability genetics, Micrognathism genetics, Models, Molecular, Neck abnormalities, Nuclear Proteins genetics, Transcription Factors genetics
Abstract

Coffin-Siris syndrome (CSS) is a developmental disability, caused by genomic variants in the gene SMARCA4 , in addition to other known genes, but the full spectrum of SMARCA4 variants that can cause CSS is unknown with 40% of cases not having molecular confirmation. In this report, we identify a patient with CSS, a severe cardiac phenotype, and a novel SMARCA4 variant. There is no experimental structure of human SMARCA4, so we use molecular modeling techniques to generate a structural model of human SMARCA4. We then map known SMARCA4 variants causative of CSS and our novel variant to the model. We use the resulting information to support the interpretation that the novel variant is causative of disease in our patient. Modeling demonstrates that the variant found in our patient is in a region of SMARCA4 associated with DNA binding, as are the other known pathogenic SMARCA4 variants mapped. Because of this structural information, we discuss how these variants may be disease-causing through a dominant negative effect of disrupting DNA binding., (© 2019 Dsouza et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2019
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45. Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome.

Author

Geddes GC, Stamm K, Mitchell M, Mussatto KA, and Tomita-Mitchell A

Abstract

Purpose: To test the hypothesis that patients with hypoplastic left heart syndrome (HLHS) and developmental delay will have a higher average summative C-score in ciliopathy genes than patients with HLHS without developmental delay., Methods: Ciliopathy gene variant burden was determined utilizing a summative C-score for 14 ciliopathy genes in children with HLHS (n = 24). Mean summative C-scores were compared between children with and without developmental delay. Genome-wide randomizing gene sets were evaluated as a scoring control., Results: Children with developmental delay had a mean summative C-score of 4.05 in ciliopathy genes as compared to a mean summative C-score of 2.02 for children without developmental delay. This difference in means was higher than 99.1% (empirical P value <0.01) of 2 million random lists of 14 genes., Conclusion: Genetically complex disorders such as ciliopathies can be assessed to determine phenotypic risk with summative C-score in appropriately chosen gene sets. If these results are replicated in subsequent cohorts, a diagnostic gene panel could identify risk for developmental delay and other ciliopathy-related comorbidities in infants with congenital heart disease.Genet Med advance online publication 27 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.167.

Published
2017
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