Items where Division is "Bioinformatics and Molecular Genetics"

  • CI Division (17)
    • Bioinformatics and Molecular Genetics (17)
Group by: Creators | Item Type | Date | No Grouping
Jump to: A | B | C | H | I | M | R | S
Number of items at this level: 17.

A

Ai, Tomohiko and Gray, Belinda and Gnanappa, Ganesh Kumar and Bagnall, Richard D. and Femia, Giuseppe and Yeates, Laura and Ingles, Jodie and Burns, Charlotte and Puranik, Rajesh and Grieve, Stuart M. and Semsarian, Christopher and Sy, Raymond W. Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome. PLOS ONE (2018), 13 (4) e0195594. ISSN 1932-6203

B

Butters, Alexandra and Bagnall, Richard D. and Ingles, Jodie Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing. [Editorial Material]

Bagnall, Richard D. and Singer, Emma S. and Tfelt-Hansen, Jacob Sudden Cardiac Death in the Young. [Review]

Bagnall, Richard D. and Ingles, Jodie and Dinger, Marcel E. and Cowley, Mark J. and Ross, Samantha Barratt and Minoche, André E. and Lal, Sean and Turner, Christian and Colley, Alison and Rajagopalan, Sulekha and Berman, Yemima and Ronan, Anne and Fatkin, Diane and Semsarian, Christopher Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology (2018), 72 (4) pp. 419-429. ISSN 07351097

C

Clemens, Daniel J. and Gray, Belinda and Bagnall, Richard D. and Tester, David J. and Giudicessi, John R. and Maleszewski, Joseph J. and Crotti, Lia and Schwartz, Peter J. and Matthews, Emma and Semsarian, Christopher and Behr, Elijah R. and Ackerman, Michael J. Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. [Letter]

Clemens, Daniel J. and Gray, Belinda and Bagnall, Richard D. and Tester, David J. and Dotzler, Steven M. and Giudicessi, John R. and Matthews, Emma and Semsarian, Christopher and Behr, Elijah R. and Ackerman, Michael J. Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population. Circulation: Genomic and Precision Medicine (2020), 13 (2) ISSN 2574-8300

Clemens, Daniel J. and Gray, Belinda and Bagnall, Richard D. and Tester, David J. and Dotzler, Steven M. and Giudicessi, John R. and Matthews, Emma and Semsarian, Christopher and Behr, Elijah R. and Ackerman, Michael J. Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population. Circulation: Genomic and Precision Medicine (2020), 13 (2) ISSN 2574-8300

H

Holliday, Mira and Singer, Emma S. and Ross, Samantha B. and Lim, Seakcheng and Lal, Sean and Ingles, Jodie and Semsarian, Christopher and Bagnall, Richard D. Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3. Circulation: Genomic and Precision Medicine (2021), 14 (2) ISSN 2574-8300

I

Ingles, Jodie and Bagnall, Richard D and Yeates, Laura and McGrady, Michele and Berman, Yemima and Whalley, David and Duflou, Johan and Semsarian, Christopher Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events. Circulation: Genomic and Precision Medicine (2018), 11 (11) ISSN 2574-8300

Ingles, Jodie and Bagnall, Richard D. and Semsarian, Christopher Genetic Testing for Cardiomyopathies in Clinical Practice. Heart Failure Clinics (2018), 14 (2) pp. 129-137. ISSN 15517136

M

Mattivi, Connor L. and Bos, J. Martijn and Bagnall, Richard D. and Nowak, Natalie and Giudicessi, John R. and Ommen, Steve R. and Semsarian, Christopher and Ackerman, Michael J. Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing. Circulation: Genomic and Precision Medicine (2020), 13 (5) pp. 453-459. ISSN 2574-8300

Minoche, Andre E. and Horvat, Claire and Johnson, Renee and Gayevskiy, Velimir and Morton, Sarah U. and Drew, Alexander P. and Woo, Kerhan and Statham, Aaron L. and Lundie, Ben and Bagnall, Richard D. and Ingles, Jodie and Semsarian, Christopher and Seidman, J. G. and Seidman, Christine E. and Dinger, Marcel E. and Cowley, Mark J. and Fatkin, Diane Response to Brodehl et al. Genetics in Medicine (2019), 21 (5) pp. 1248-1249. ISSN 1098-3600

R

Ross, Samantha Barratt and Singer, Emma S. and Driscoll, Elizabeth and Nowak, Natalie and Yeates, Laura and Puranik, Rajesh and Sy, Raymond W. and Rajagopalan, Sulekha and Barratt, Alexandra and Ingles, Jodie and Bagnall, Richard D. and Semsarian, Christopher Genetic architecture of left ventricular noncompaction in adults. Human Genome Variation (2020), 7 (1) ISSN 2054-345X

S

Soh, Ming S. and Bagnall, Richard D. and Bennett, Mark F. and Bleakley, Lauren E. and Mohamed Syazwan, Erlina S. and Marie Phillips, A. and Chiam, Mathew D. F. and McKenzie, Chaseley E. and Hildebrand, Michael and Crompton, Douglas and Bahlo, Melanie and Semsarian, Christopher and Scheffer, Ingrid E. and Berkovic, Samuel F. and Reid, Christopher A. Loss‐of‐function variants in K v 11.1 cardiac channels as a biomarker for SUDEP. Annals of Clinical and Translational Neurology (2021), ISSN 2328-9503

Singer, Emma S. and Ross, Samantha B. and Skinner, Jon R. and Weintraub, Robert G. and Ingles, Jodie and Semsarian, Christopher and Bagnall, Richard D. Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in Medicine (2020), ISSN 1098-3600

Singer, Emma S. and Ingles, Jodie and Semsarian, Christopher and Bagnall, Richard D. Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine (2019), 12 (1) ISSN 2574-8300

Semsarian, Christopher and Ingles, Jodie and Bagnall, Richard D. Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations. Journal of the American College of Cardiology (2019), 73 (11) pp. 1365-1366. ISSN 07351097

This list was generated on Sun Oct 24 02:46:20 2021 UTC.