نتائج البحث - "Rebecca Truty"

1

دورية أكاديمية

Scalable detection of technically challenging variants through modified next‐generation sequencing

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: bioinformatics, genetic testing, molecular genetics, next‐generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/f96c2a3a0d53441093c4dd5a10f72c60Test

View record in DOAJ

النص الكامل

2

دورية أكاديمية

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 397-408 (2019)

مصطلحات موضوعية: diagnostic genetic testing, next‐generation sequencing panel, copy number variant, precision medicine, clinical management, variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2470-9239Test

الوصول الحر: https://doaj.org/article/63da92c7102c47088be6ed489b30083bTest

View record in DOAJ

النص الكامل

3

دورية أكاديمية

ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

المؤلفون: Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)

مصطلحات موضوعية: AHC, alternating hemiplegia of childhood, ATP1A3, D801N, sudden unexpected death in epilepsy, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2047-9980Test

الوصول الحر: https://doaj.org/article/3b80305b960849069d5982056f4e303cTest

View record in DOAJ

النص الكامل

4

دورية أكاديمية

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

المؤلفون: B. Monica Bowen, Rebecca Truty, Swaroop Aradhya, Sara L. Bristow, Britt A. Johnson, Ana Morales, Christopher A. Tan, M. Jody Westbrook, Thomas L. Winder, Juan C. Chavez

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: spinal muscular atrophy, neuromuscular disorders, genetics, inherited neurologic disorders, motor neuron disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.663911/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/e565011b6be84a82b20cd5eb0a778177Test

View record in DOAJ

النص الكامل

5

دورية أكاديمية

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

المؤلفون: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

مصطلحات موضوعية: Asia, diffuse panbronchiolitis, DRC1, primary ciliary dyskinesia, recurrent mutation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/a8502e011c034d7aa76fe2a194379d0cTest

View record in DOAJ

النص الكامل

6

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

المؤلفون: Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez, Leslie Burnett, Robert L. Nussbaum, Swaroop Aradhya

المصدر: The American Journal of Human Genetics. 110:551-564

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::10327a906fe9a593fb8f79865913699eTest
https://doi.org/10.1016/j.ajhg.2023.02.013Test

7

Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant

المؤلفون: Kathryn E. Hatchell, Yael Laitman, Rinat Bernstein-Molho, Edward D. Esplin, Sarah M. Nielsen, Rebecca Truty, Eitan Friedman

المصدر: Familial Cancer. 21:305-308

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, Cancer, medicine.disease, Ashkenazi jews, Breast cancer, Internal medicine, Pancreatic cancer, Epidemiology, Attributable risk, Genetics, Medicine, Missense mutation, skin and connective tissue diseases, business, CHEK2, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::89596d42692eee61cdb704d6b20187c0Test
https://doi.org/10.1007/s10689-021-00278-6Test

8

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

المؤلفون: Anna Lehman, Christina T. Rüsch, Angela F. Brady, Julie S. Cohen, Millan S. Patel, Rani Sachdev, Usha Kini, Elizabeth E. Palmer, Reza Maroofian, Sonal Mahida, Karen Stals, Roger L. Ladda, Yoshiko Murakami, Camille Tremblay-Laganière, Tahsin Stefan Barakat, Scott D. McLean, Fizza Akbar, Marilena Christoforou, Farah Ashrafzadeh, Melissa A. Walker, Grazia M.S. Mancini, Salman Kirmani, Kimberly Nugent, Philippe M. Campeau, Fatima Y. Ismail, Amanda Nagy, Sian Ellard, Stephanie Efthymiou, Bushra Afroze, Rebecca Macintosh, Saskia B. Wortmann, Danilo Bernardo, Rebecca Truty, Matias Wagner, Shahnaz Ibrahim, Tipu Sultan, Kristin W. Barañano, Stylianos E. Antonarakis, Yuta Maki, Thi Tuyet Mai Nguyen, Henry Houlden, Robert Steinfeld, Saadet Mercimek-Andrews, Taroh Kinoshita, Georg M. Stettner, Andrew C. Edmondson, Naila Ismayilova, Meisam Babaei, Heather M. McLaughlin, Mohammad Doosti, Ehsan Ghayoor Karimiani

المساهمون: Clinical Genetics

المصدر: Genet. Med. 23, 1873-1881 (2021)
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5f57c55009acbb5383a3912c376674cTest
https://doi.org/10.1038/s41436-021-01215-9Test

9

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

المصدر: Genetics in Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0Test
https://doi.org/10.1038/s41436-021-01187-wTest

10

دورية أكاديمية

Proffered Papers and Posters Presented at the Seventh International Symposium on Hereditary Breast and Ovarian Cancer—BrcA: From the Personal to the Population

المؤلفون: Stephen Lincoln, Eric Klee, Andrew Fellowes, Shimul Chowdhury, Shazia Mahamdallie, Justin Zook, Rebecca Truty, Russell Garlick, Marc Salit, Nazneen Rahman, Swaroop Aradhya, Stephen Kingsmore, Robert Nussbaum, Matthew Ferber, Brian Shirts

المصدر: Current Oncology; Volume 25; Issue 3; Pages: 224-262

مصطلحات موضوعية: n/a

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3747/co.25.4243Test

الإتاحة: https://doi.org/10.3747/co.25.4243Test

View record in BASE

تنقيح النتائج