Items where Division is "Bioinformatics and Molecular Genetics"

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

E

Ellingford, Jamie M. and Ahn, Joo Wook and Bagnall, Richard D. and Baralle, Diana and Barton, Stephanie and Campbell, Chris and Downes, Kate and Ellard, Sian and Duff-Farrier, Celia and FitzPatrick, David R. and Greally, John M. and Ingles, Jodie and Krishnan, Neesha and Lord, Jenny and Martin, Hilary C. and Newman, William G. and O’Donnell-Luria, Anne and Ramsden, Simon C. and Rehm, Heidi L. and Richardson, Ebony and Singer-Berk, Moriel and Taylor, Jenny C. and Williams, Maggie and Wood, Jordan C. and Wright, Caroline F. and Harrison, Steven M. and Whiffin, Nicola Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine (2022), 14 (1) ISSN 1756-994X

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

L

Lesurf, Robert and Said, Abdelrahman and Akinrinade, Oyediran and Breckpot, Jeroen and Delfosse, Kathleen and Liu, Ting and Yao, Roderick and Persad, Gabrielle and McKenna, Fintan and Noche, Ramil R. and Oliveros, Winona and Mattioli, Kaia and Shah, Shreya and Miron, Anastasia and Yang, Qian and Meng, Guoliang and Yue, Michelle Chan Seng and Sung, Wilson W. L. and Thiruvahindrapuram, Bhooma and Lougheed, Jane and Oechslin, Erwin and Mondal, Tapas and Bergin, Lynn and Smythe, John and Jayappa, Shashank and Rao, Vinay J. and Shenthar, Jayaprakash and Dhandapany, Perundurai S. and Semsarian, Christopher and Weintraub, Robert G. and Bagnall, Richard D. and Ingles, Jodie and Ambrose, J. C. and Arumugam, P. and Baple, E. L. and Bleda, M. and Boardman-Pretty, F. and Boissiere, J. M. and Boustred, C. R. and Brittain, H. and Caulfield, M. J. and Chan, G. C. and Craig, C. E. H. and Daugherty, L. C. and de Burca, A. and Devereau, A. and Elgar, G. and Foulger, R. E. and Fowler, T. and Furió-Tarí, P. and Giess, A. and Hackett, J. M. and Halai, D. and Hamblin, A. and Henderson, S. and Holman, J. E. and Hubbard, T. J. P. and Ibáñez, K. and Jackson, R. and Jones, L. J. and Kasperaviciute, D. and Kayikci, M. and Kousathanas, A. and Lahnstein, L. and Lawson, K. and Leigh, S. E. A. and Leong, I. U. S. and Lopez, F. J. and Maleady-Crowe, F. and Mason, J. and McDonagh, E. M. and Moutsianas, L. and Mueller, M. and Murugaesu, N. and Need, A. C. and Odhams, C. A. and Orioli, A. and Patch, C. and Perez-Gil, D. and Pereira, M. B. and Polychronopoulos, D. and Pullinger, J. and Rahim, T. and Rendon, A. and Riesgo-Ferreiro, P. and Rogers, T. and Ryten, M. and Savage, K. and Sawant, K. and Scott, R. H. and Siddiq, A. and Sieghart, A. and Smedley, D. and Smith, K. R. and Smith, S. C. and Sosinsky, A. and Spooner, W. and Stevens, H. E. and Stuckey, A. and Sultana, R. and Tanguy, M. and Thomas, E. R. A. and Thompson, S. R. and Tregidgo, C. and Tucci, A. and Walsh, E. and Watters, S. A. and Welland, M. J. and Williams, E. and Witkowska, K. and Wood, S. M. and Zarowiecki, M. and Melé, Marta and Maass, Philipp G. and Ellis, James and Scherer, Stephen W. and Mital, Seema Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. npj Genomic Medicine (2022), 7 (1) ISSN 2056-7944

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

Rayani, Kaveh and Davies, Brianna and Cheung, Matthew and Comber, Drake and Roberts, Jason D. and Tadros, Rafik and Green, Martin S. and Healey, Jeffrey S. and Simpson, Christopher S. and Sanatani, Shubhayan and Steinberg, Christian and MacIntyre, Ciorsti and Angaran, Paul and Duff, Henry and Hamilton, Robert and Arbour, Laura and Leather, Richard and Seifer, Colette and Fournier, Anne and Atallah, Joseph and Kimber, Shane and Makanjee, Bhavanesh and Alqarawi, Wael and Cadrin-Tourigny, Julia and Joza, Jacqueline and Gardner, Martin and Talajic, Mario and Bagnall, Richard D. and Krahn, Andrew D. and Laksman, Zachary W. M. Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry. European Journal of Human Genetics (2022), ISSN 1018-4813

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

Shah, Jaynish S. and Milevskiy, Michael J. G. and Petrova, Veronika and Au, Amy Y. M. and Wong, Justin J. L. and Visvader, Jane E. and Schmitz, Ulf and Rasko, John E. J. Towards resolution of the intron retention paradox in breast cancer. Breast Cancer Research (2022), 24 (1) ISSN 1465-542X

Soh, Ming S. and Bagnall, Richard D. and Semsarian, Christopher and Scheffer, Ingrid E. and Berkovic, Samuel F. and Reid, Christopher A. Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. Epilepsia (2022), 63 (6) ISSN 0013-9580

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