نتائج البحث - "Christa L. Martin"

1

دورية أكاديمية

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

المؤلفون: Laney K. Jones, Natasha T. Strande, Evan M. Calvo, Jingheng Chen, Gabriela Rodriguez, Cara Z. McCormick, Miranda L. G. Hallquist, Juliann M. Savatt, Heather Rocha, Marc S. Williams, Amy C. Sturm, Adam H. Buchanan, Russell E. Glasgow, Christa L. Martin, Alanna Kulchak Rahm

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: DNA-based population screening, implementation science, healthcare system, RE-AIM, genetics, MyCode, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.883073/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/522103d74d794e618ecf78894398352aTest

View record in DOAJ

النص الكامل

2

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3Test
https://doi.org/10.1101/2023.03.30.23287948Test

3

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines

المؤلفون: Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda M. Finucane, David H. Ledbetter, Christa L. Martin, Andres Moreno-De-Luca

المصدر: JAMA Pediatrics. 177:472

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b5df6d739e96e5bed62376241eb6744Test
https://doi.org/10.1001/jamapediatrics.2023.0008Test

4

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

5

Table1_A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.docx

المؤلفون: Laney K. Jones, Natasha T. Strande, Evan M. Calvo, Jingheng Chen, Gabriela Rodriguez, Cara Z. McCormick, Miranda L. G. Hallquist, Juliann M. Savatt, Heather Rocha, Marc S. Williams, Amy C. Sturm, Adam H. Buchanan, Russell E. Glasgow, Christa L. Martin, Alanna Kulchak Rahm

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, DNA-based population screening, implementation science, healthcare system, RE-AIM, MyCode

العلاقة: https://figshare.com/articles/dataset/Table1_A_RE-AIM_Framework_Analysis_of_DNA-Based_Population_Screening_Using_Implementation_Science_to_Translate_Research_Into_Practice_in_a_Healthcare_System_docx/19860868Test

الإتاحة: https://doi.org/10.3389/fgene.2022.883073.s001Test
https://figshare.com/articles/dataset/Table1_A_RE-AIM_Framework_Analysis_of_DNA-Based_Population_Screening_Using_Implementation_Science_to_Translate_Research_Into_Practice_in_a_Healthcare_System_docx/19860868Test

View record in BASE

6

5.4 Exploring Gene Dosage Disorders in the Healthcare Setting

المؤلفون: Christa L. Martin

المصدر: Journal of the American Academy of Child & Adolescent Psychiatry. 61:S285

مصطلحات موضوعية: Psychiatry and Mental health, Developmental and Educational Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e3717d426b4b5f598cfe4b5043b9932eTest
https://doi.org/10.1016/j.jaac.2022.07.585Test

7

دورية أكاديمية

Large inverted duplications in the human genome form via a fold-back mechanism.

المؤلفون: Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd

المصدر: PLoS Genetics, Vol 10, Iss 1, p e1004139 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3907307?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/98cb361d57bb4a7581e7900cda9814baTest

View record in DOAJ

النص الكامل

8

دورية أكاديمية

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

المؤلفون: M. Katharine Rudd, Julia Keene, Brian Bunke, Erin B. Kaminsky, Margaret P, Jennifer G. Mulle, David H. Ledbetter, Christa L. Martin

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/early/2009/05/14/hmg.ddp233.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1027.2779Test; http://hmg.oxfordjournals.org/content/early/2009/05/14/hmg.ddp233.full.pdfTest

الإتاحة: http://hmg.oxfordjournals.org/content/early/2009/05/14/hmg.ddp233.full.pdfTest

View record in BASE

9

دورية أكاديمية

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المؤلفون: Yuhei Nishimura, Christa L. Martin, Araceli Vazquez Lopez, Sarah J. Spence, Ana Isabel Alvarez-retuerto, Marian Sigman, Corinna Steindler, Ra Pellegrini, N. Carolyn Schanen, Stephen T. Warren, Daniel H. Geschwind

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/16/14/1682.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.517.6062Test; http://hmg.oxfordjournals.org/content/16/14/1682.full.pdfTest

الإتاحة: http://hmg.oxfordjournals.org/content/16/14/1682.full.pdfTest

View record in BASE

10

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

المؤلفون: Siddharth Srivastava, Jamie A. Love-Nichols, Kira A. Dies, David H. Ledbetter, Christa L. Martin, Wendy K. Chung, Helen V. Firth, Thomas Frazier, Robin L. Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Sahin, David T. Miller

المصدر: Genetics in Medicine. 22(10):1731-1732

مصطلحات موضوعية: Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04cde1c540cc1d39018e0c4258f3e580Test
https://cris.maastrichtuniversity.nl/en/publications/867a7da2-cf3a-4820-8d5d-7aad27788f39Test

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