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There are 57955 results for: content related to: Refining the structure and content of clinical genomic reports

  1. Whole exome or genome sequencing: nurses need to prepare families for the possibilities

    Journal of Advanced Nursing

    Volume 70, Issue 12, December 2014, Pages: 2736–2745, Cynthia A. Prows, Grace Tran and Beverly Blosser

    Version of Record online : 1 SEP 2014, DOI: 10.1111/jan.12516

  2. You have full text access to this OnlineOpen article
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 815–822, Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman and Christian Gilissen

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22813

  3. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 301–310, J.A. Anderson, R.Z. Hayeems, C. Shuman, M.J. Szego, N. Monfared, S. Bowdin, R. Zlotnik Shaul and M.S. Meyn

    Version of Record online : 7 OCT 2014, DOI: 10.1111/cge.12460

  4. Requiring genetic knowledge: a principled case for support

    Legal Studies

    Volume 35, Issue 3, September 2015, Pages: 532–550, Victoria Chico

    Version of Record online : 17 MAR 2015, DOI: 10.1111/lest.12080

  5. Prenatal whole-exome sequencing: parental attitudes

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 1030–1036, Eve J. Kalynchuk, Andrew Althouse, Lisa S. Parker, Devereux N. Saller Jr. and Aleksandar Rajkovic

    Version of Record online : 6 JUL 2015, DOI: 10.1002/pd.4635

  6. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

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    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Prenatal Diagnosis

    Volume 35, Issue 11, November 2015, Pages: 1073–1078, Christina L. Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C. Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao and Sha Tang

    Version of Record online : 3 AUG 2015, DOI: 10.1002/pd.4648

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    mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 25–33, Zhongshan Li, Zhenwei Liu, Yi Jiang, Denghui Chen, Xia Ran, Zhong Sheng Sun and Jinyu Wu

    Version of Record online : 13 OCT 2016, DOI: 10.1002/humu.23125

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    Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

    Clinical Genetics

    Volume 91, Issue 1, January 2017, Pages: 63–72, C. Paludan-Müller, G. Ahlberg, J. Ghouse, C. Herfelt, J.H. Svendsen, S. Haunsø, J.K. Kanters and M.S. Olesen

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12847

  10. Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1328–1331, Sophia B. Hufnagel and Armand H. Antommaria

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36398

  11. The Fiduciary Relationship Model for Managing Clinical Genomic “Incidental” Findings

    The Journal of Law, Medicine & Ethics

    Volume 42, Issue 4, Winter 2014, Pages: 576–589, Gabriel Lázaro-Muñoz

    Version of Record online : 6 JAN 2015, DOI: 10.1111/jlme.12177

  12. Views of primary care providers regarding the return of genome sequencing incidental findings

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 461–468, K.A. Strong, K.L. Zusevics, D. Bick and R. Veith

    Version of Record online : 20 MAY 2014, DOI: 10.1111/cge.12390

  13. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 230–236, AA Lemke, D Bick, D Dimmock, P Simpson and R Veith

    Version of Record online : 7 DEC 2012, DOI: 10.1111/cge.12060

  14. Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa

    Clinical Genetics

    Accepted manuscript online: 9 JUN 2017, Remya Koshy, Ambily Sivadas and Vinod Scaria

    DOI: 10.1111/cge.13070

  15. On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

    The Journal of Law, Medicine & Ethics

    Volume 43, Issue 1, Spring 2015, Pages: 134–142, Thomas May

    Version of Record online : 2 APR 2015, DOI: 10.1111/jlme.12201

  16. Experiences with obtaining informed consent for genomic sequencing

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2635–2646, Barbara A. Bernhardt, Myra I. Roche, Denise L. Perry, Sarah R. Scollon, Ashley N. Tomlinson and Debra Skinner

    Version of Record online : 21 JUL 2015, DOI: 10.1002/ajmg.a.37256

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    The tricky matter of secondary genomic findings

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: ix–x,

    Version of Record online : 18 JUN 2012, DOI: 10.1002/ajmg.a.35521

  18. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

    Annals of the New York Academy of Sciences

    Volume 1366, Issue 1, February 2016, Pages: 49–60, Brent L. Fogel, Hane Lee, Samuel P. Strom, Joshua L. Deignan and Stanley F. Nelson

    Version of Record online : 6 AUG 2015, DOI: 10.1111/nyas.12850

  19. Distinguishing pathogenic mutations from background genetic noise in cardiology: the use of large genome databases for genetic interpretation

    Clinical Genetics

    Accepted manuscript online: 6 JUN 2017, Jonas Ghouse, Morten W. Skov, Robert S. Bigseth, Gustav Ahlberg, Jørgen K. Kanters and Morten S. Olesen

    DOI: 10.1111/cge.13066

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    Patients and families generally welcome secondary genomic findings

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: ix–x, Deborah Levenson

    Version of Record online : 21 JAN 2014, DOI: 10.1002/ajmg.a.36418