Search

Your search keyword '"Bergner, Amanda"' showing total 18 results
Start Over Author "Bergner, Amanda" Search Limiters Available in Library Collection
18 results on '"Bergner, Amanda"'

2. Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.

Author

Martin, Bree E., Sands, Tristan, Bier, Louise, Bergner, Amanda, Boehme, Amelia K., and Lippa, Natalie

Abstract

Background Studies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been explored in epilepsy, which is increasingly found to be genetic in paediatric populations, and has precision medicine applications. This study examines the differences in the frequency of uncertain next-generation sequencing (NGS) results among a paediatric epilepsy cohort between ancestral groups historically under-represented in biomedical research (UBR) and represented in biomedical research (RBR). Methods A retrospective chart review of patients with epilepsy seen at Columbia University Irving Medical Center (CUIMC). One hundred seventy-eight cases met the following criteria: (1) visited any provider within the Pediatric Neurology Clinic at CUIMC, (2) had an ICD code indicating a diagnosis of epilepsy, (3) underwent NGS testing after March 2015 and (4) had self-reported ancestry that fit into a single dichotomous category of either historically represented or under-represented in biomedical research. Results UBR cases had significantly higher rates of uncertain results when compared with RBR cases (79.2% UBR, 20.8% RBR; p value=0.002). This finding remained true after controlling for potential confounding factors, including sex, intellectual disability or developmental delay, epilepsy type, age of onset, number of genes tested and year of testing. Conclusion Our results add to the literature that individuals who are of ancestries historically underrepresented in genetics research are more likely to receive uncertain genetic results than those of represented majority ancestral groups and establishes this finding in an epilepsy cohort. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

3. Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials

Author

Wolters, Pamela L, Martin, Staci, Merker, Vanessa L, Tonsgard, James H, Solomon, Sondra E, Baldwin, Andrea, Bergner, Amanda L, Walsh, Karin, Thompson, Heather L, Gardner, Kathy L, Hingtgen, Cynthia M, Schorry, Elizabeth, Dudley, William N, and Franklin, Barbara

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Chronic Pain, Neurosciences, Pain Research, Clinical Trials and Supportive Activities, Good Health and Well Being, Clinical Trials as Topic, Disability Evaluation, Humans, Neurofibromatoses, Pain, Pain Measurement, Patient Reported Outcome Measures, Self Report, REiNS International Collaboration, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing pain and physical functioning should be included as study endpoints. Currently, there is no consensus on the selection and use of such measures in the NF population. This article presents the recommendations of the PRO group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration for assessing the domains of pain and physical functioning for NF clinical trials.MethodsThe REiNS PRO group reviewed and rated existing PRO measures assessing pain intensity, pain interference, and physical functioning using their systematic method. Final recommendations are based primarily on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility for clinical trials.ResultsThe REiNS PRO group chose the Numeric Rating Scale-11 (≥8 years) to assess pain intensity, the Pain Interference Index (6-24 years) and the Patient-Reported Outcome Measurement Information System (PROMIS) Pain Interference Scale (≥18 years) to evaluate pain interference, and the PROMIS Physical Functioning Scale to measure upper extremity function and mobility (≥5 years) for NF clinical trials.ConclusionsThe REiNS Collaboration currently recommends these PRO measures to assess the domains of pain and physical functioning for NF clinical trials; however, further research is needed to evaluate their use in individuals with NF. A final consensus recommendation for the pain interference measure will be disseminated in a future publication based on findings from additional published research.

Published
2016

5. Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients

Author

Trujillo, Shannon, primary, Wetmore, John B., additional, Camarillo, Itzel A., additional, Misiewicz, Sylwia, additional, May, Halie, additional, Choi, Hyunmi, additional, Siegel, Karolynn, additional, Chung, Wendy K., additional, Phelan, Jo C., additional, Yang, Lawrence H., additional, Leu, Cheng‐Shiun, additional, Bergner, Amanda L., additional, and Ottman, Ruth, additional

Published
2023
Full Text
View/download PDF

7. P395: Assessing the collaborative relationships among diverse stakeholders working to expand access to genetic services in Puerto Rico

Author

Kutsa, Oksana, primary, Terry, Alissa, additional, Bodurtha, Joann, additional, Caggana, Michele, additional, Gonzalez, Carlos, additional, Lopez, Enrique, additional, Frangenberg, Maria, additional, Burgos, Coralaidee, additional, Arciniegas-Medina, Norma, additional, Bergner, Amanda, additional, and Raspa, Melissa, additional

Published
2023
Full Text
View/download PDF

8. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Author

Plotkin, Scott R., primary, Messiaen, Ludwine, additional, Legius, Eric, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Blakeley, Jaishri O., additional, Babovic-Vuksanovic, Dusica, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Giovannini, Marco, additional, Gutmann, David H., additional, Hanemann, Clemens Oliver, additional, Kalamarides, Michel, additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, MacCollin, Mia, additional, Papi, Laura, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Smith, Miriam J., additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Huson, Susan M., additional, Wolkenstein, Pierre, additional, Evans, D. Gareth, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Gomes, Alicia, additional, Halliday, Dorothy, additional, Helen Hanson Arvid Heiberg, Chris Hammond, additional, Joly, Pascal, additional, Jordan, Justin T., additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, Mallucci, Conor, additional, Merker, Vanessa L., additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, and Zadeh, Gelareh, additional

Published
2022
Full Text
View/download PDF

9. Genetic testing for the epilepsies: A systematic review

Author

Sheidley, Beth R., primary, Malinowski, Jennifer, additional, Bergner, Amanda L., additional, Bier, Louise, additional, Gloss, David S., additional, Mu, Weiyi, additional, Mulhern, Maureen M., additional, Partack, Emily J., additional, and Poduri, Annapurna, additional

Published
2021
Full Text
View/download PDF

10. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Author

Legius, Eric, primary, Messiaen, Ludwine, additional, Wolkenstein, Pierre, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Berman, Yemima, additional, Blakeley, Jaishri, additional, Babovic-Vuksanovic, Dusica, additional, Cunha, Karin Soares, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Gutmann, David H., additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, Peltonen, Sirkku, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Tadini, Gianluca, additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Gomes, Alicia, additional, Jordan, Justin T., additional, Mautner, Victor, additional, Merker, Vanessa L., additional, Smith, Miriam J., additional, Stevenson, David, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Giovannini, Marco, additional, Halliday, Dorothy, additional, Hammond, Chris, additional, Hanemann, C.O., additional, Hanson, Helen, additional, Heiberg, Arvid, additional, Joly, Pascal, additional, Kalamarides, Michel, additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, MacCollin, Mia, additional, Mallucci, Conor, additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Papi, Laura, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, Zadeh, Gelareh, additional, Huson, Susan M., additional, Evans, D. Gareth, additional, and Plotkin, Scott R., additional

Published
2021
Full Text
View/download PDF

11. Genetic testing for the epilepsies: A systematic review.

Author

Sheidley, Beth R., Malinowski, Jennifer, Bergner, Amanda L., Bier, Louise, Gloss, David S., Mu, Weiyi, Mulhern, Maureen M., Partack, Emily J., and Poduri, Annapurna

Subjects
GENETIC testing, COMPARATIVE genomic hybridization, EPILEPSY, PEOPLE with epilepsy, GENETIC counseling
Abstract

Objective: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. We performed a systematic evidence review (SER) and conducted meta‐analyses of the diagnostic yield of genetic tests commonly utilized for patients with epilepsy. We also assessed nonyield outcomes (NYOs) such as changes in treatment and/or management, prognostic information, recurrence risk determination, and genetic counseling. Methods: We performed an SER, in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analyses), using PubMed, Embase, CINAHL, and Cochrane Central through December of 2020. We included studies that utilized genome sequencing (GS), exome sequencing (ES), multigene panel (MGP), and/or genome‐wide comparative genomic hybridization/chromosomal microarray (CGH/CMA) in cohorts (n ≥ 10) ascertained for epilepsy. Quality assessment was undertaken using ROBINS‐I (Risk of Bias in Non‐Randomized Studies of Interventions). We estimated diagnostic yields and 95% confidence intervals with random effects meta‐analyses and narratively synthesized NYOs. Results: From 5985 nonduplicated articles published through 2020, 154 met inclusion criteria and were included in meta‐analyses of diagnostic yield; 43 of those were included in the NYO synthesis. The overall diagnostic yield across all test modalities was 17%, with the highest yield for GS (48%), followed by ES (24%), MGP (19%), and CGH/CMA (9%). The only phenotypic factors that were significantly associated with increased yield were (1) the presence of developmental and epileptic encephalopathy and/or (2) the presence of neurodevelopmental comorbidities. Studies reporting NYOs addressed clinical and personal utility of testing. Significance: This comprehensive SER, focused specifically on the literature regarding patients with epilepsy, provides a comparative assessment of the yield of clinically available tests, which will help shape clinician decision‐making and policy regarding insurance coverage for genetic testing. We highlight the need for prospective assessment of the clinical and personal utility of genetic testing for patients with epilepsy and for standardization in reporting patient characteristics. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

13. Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing

Author

Elliott, Aaron and Bergner, Amanda

Subjects
Molecular diagnostic techniques -- Usage -- Research, Epilepsy -- Care and treatment -- Diagnosis -- Research, Genetic screening -- Research, Business, Health care industry
Abstract

Epilepsy is a highly complex disease and is one of the most common neurological conditions worldwide. Some 2,500 years after Hippocrates observed a hereditary tendency for epilepsy, researchers discovered the [...]

Published
2016

16. Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model

Author

Rhodes, Steven D., primary, Zhang, Wei, additional, Yang, Dalong, additional, Yang, Hao, additional, Chen, Shi, additional, Wu, Xiaohua, additional, Li, Xiaohong, additional, Yang, Xianlin, additional, Mohammad, Khalid S., additional, Guise, Theresa A., additional, Bergner, Amanda L., additional, Stevenson, David A., additional, and Yang, Feng-Chun, additional

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results