Items where Author is "Ng, Chai-Ann"

Article

Clasper, Susan and Trivedi, Gunjan and Thomson, Kate L. and Turner, Claire L.S. and Devaiah, Smrithi and Mercer, Catherine L. and Bdeir, Amnah Y. and Al-Aama, Jumana Y. and Dagriri, Khalid and Hobson, Alex R. and Sadagopan, Shankar N. and Ormerod, Julian and Szepesvary, Eszter and Phan, Justin and Fatkin, Diane and Vandenberg, Jamie I. and Bhuiyan, Zahurul A. and Ng, Chai-Ann (2025) Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2 -Related LQTS. Circulation: Genomic and Precision Medicine, 18 (2). ISSN 2574-8300

O’Neill, Matthew J. and Ng, Chai-Ann and Aizawa, Takanori and Sala, Luca and Bains, Sahej and Winbo, Annika and Ullah, Rizwan and Shen, Qianyi and Tan, Chek-Ying and Kozek, Krystian and Vanags, Loren R. and Mitchell, Devyn W. and Shen, Alex and Wada, Yuko and Kashiwa, Asami and Crotti, Lia and Dagradi, Federica and Musu, Giulia and Spazzolini, Carla and Neves, Raquel and Bos, J. Martijn and Giudicessi, John R. and Bledsoe, Xavier and Gamazon, Eric R. and Lancaster, Megan C. and Glazer, Andrew M. and Knollmann, Bjorn C. and Roden, Dan M. and Weile, Jochen and Roth, Frederick and Salem, Joe-Elie and Earle, Nikki and Stiles, Rachael and Agee, Taylor and Johnson, Christopher N. and Horie, Minoru and Skinner, Jonathan R. and Ackerman, Michael J. and Schwartz, Peter J. and Ohno, Seiko and Vandenberg, Jamie I. and Kroncke, Brett M. (2024) Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification. Circulation, 150 (23). pp.1869-1881. ISSN 0009-7322

Thomson, Kate L. and Jiang, Connie and Richardson, Ebony and Westphal, Dominik S. and Burkard, Tobias and Wolf, Cordula M. and Vatta, Matteo and Harrison, Steven M. and Ingles, Jodie and Bezzina, Connie R. and Kroncke, Brett M. and Vandenberg, Jamie I. and Ng, Chai-Ann (2024) Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay. Human Genetics and Genomics Advances, 5 (2). p. 100270. ISSN 26662477

Aljassar, Reema W. and Shen, Qianyi and Albash, Buthaina and Vandenberg, Jamie I. and Ebrahim, Mohammad A. and Ng, Chai-Ann (2024) Integration of validated functional evidence to support the pathogenicity of KCNH2 variants. Genetics in Medicine Open, 2. p. 101868. ISSN 29497744

Ma, Joanne G. and O’Neill, Matthew J. and Richardson, Ebony and Thomson, Kate L. and Ingles, Jodie and Muhammad, Ayesha and Solus, Joseph F. and Davogustto, Giovanni and Anderson, Katherine C. and Shoemaker, M. Benjamin and Stergachis, Andrew B. and Floyd, Brendan J. and Dunn, Kyla and Parikh, Victoria N. and Chubb, Henry and Perrin, Mark J. and Roden, Dan M. and Vandenberg, Jamie I. and Ng, Chai-Ann and Glazer, Andrew M. (2024) Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants. Circulation: Genomic and Precision Medicine, 17 (4). ISSN 2574-8300

Lau, Carus H. Y. and Flood, Emelie and Hunter, Mark J. and Williams-Noonan, Billy J. and Corbett, Karen M. and Ng, Chai-Ann and Bouwer, James C. and Stewart, Alastair G. and Perozo, Eduardo and Allen, Toby W. and Vandenberg, Jamie I. (2024) Potassium dependent structural changes in the selectivity filter of HERG potassium channels. Nature Communications, 15 (1). ISSN 2041-1723

Austin, Rachel and Brown, Jaye S. and Casauria, Sarah and Madelli, Evanthia O. and Mattiske, Tessa and Boughtwood, Tiffany and Metke, Alejandro and Davis, Andrew and Horton, Ari E. and Winlaw, David and Das, Debjani and Soka, Magdalena and Giannoulatou, Eleni and Rath, Emma M. and Haan, Eric and Blue, Gillian M. and Vohra, Jitendra and Atherton, John J. and van Spaendonck-Zwarts, Karin and Cox, Kathy and Burnett, Leslie and Wallis, Mathew and Haas, Matilda and Quinn, Michael C.J. and Pachter, Nicholas and Poplawski, Nicola K. and Stark, Zornitza and Bagnall, Richard D. and Weintraub, Robert G. and Pantaleo, Sarah-Jane and Lunke, Sebastian and De Fazio, Paul and Thompson, Tina and James, Paul and Chang, Yuchen and Fatkin, Diane and Macciocca, Ivan and Ingles, Jodie and Dunwoodie, Sally L. and Semsarian, Chris and McGaughran, Julie and Ades, Lesley and Enriquez, Annabel and McLean, Alison and Smyth, Renee and Alankarage, Dimithu and Fatkin, Diane and McNamara, James and Soka, Magdalena and Almog, Morgan and Fear, Vanessa and Medi, Caroline and Stark, Zornitza and Al-Shinnag, Mohammad and Fine, Miriam and Metke, Alejandro and Sy, Raymond and Atherton, John J. and Finlay, Keri and Milnes, Di and Tang, Dotti and Austin, Rachel and Garza, Denisse and Milward, Michael and Taylor, Jessica and Bagnall, Richard D. and Giannoulatou, Eleni and Morrish, Ansley and Taylor, Shelby and Barnett, Chris and Gongolidis, Laura and Morwood, Jim and Tchan, Michel and Blue, Gillian M. and Gray, Belinda and Mountain, Helen and Thompson, Tina and Bodek, Simon and Greer, Cassie and Mowat, David and Thorpe, Jordan and Boggs, Kirsten and Haan, Eric and Ng, Chai-Ann and Trainer, Alison and Bogwitz, Michael and Haas, Mathilda and Nowak, Natalie and Trivedi, Gunjan and Boughtwood, Tiffany and Hanna, Bernadette and Martinez, Noelia Nunez and Valente, Giulia and Bray, Alessandra and Harvey, Richard and Ohanian, Monique and van Spaendonck-Zwarts, Karin and Brion, Marie-Jo and Hayward, Janette and O’Sullivan, Sinead and Vandenberg, Jamie and Brown, Jaye and Herrera, Carmen and Overkov, Angela and Verma, Kunal and Richardson, Rob Bryson and Hill, Adam and Pachter, Nicholas and Vidgen, Miranda and Burnett, Leslie and Hollingsworth, Georgie and Patel, Chirag and Vohra, Jitendra and Burns, Charlotte and Hollway, Georgina and Perrin, Mark and Waddel-Smith, Kathryn and Cao, Michelle and Horton, Ari E. and Perry, Matthew and Wallis, Mathew and Carr, Will and Howting, Denise and Pflaumer, Andreas and Weintraub, Robert G. and Casauria, Sarah and Ingles, Jodie and Phillips, Peta and Wilson, Meredith and Chalinor, Heather and Isbister, Joanne and Phuong, Thuan and Winlaw, David and Chang, Yuchen and Jackson, Matilda and Pope-Couston, Rachel and Worgan, Lisa and Chapman, Gavin and James, Paul and Poplawski, Nicola K. and Wornham, Linda and Charitou, Theosodia and Jane-Pantaleo, Sarah and Punni, Preeti and Wu, Kathy and Chong, Belinda and Johnson, Renee and Quinn, Michael C.J. and Yeates, Laura and Collins, Felicity and Kelly, Andrew and Quinn, Michael and Zentner, Dominica and Correnti, Gemma and King-Smith, Sarah and Rajagopalan, Sulekha and Cox, Kathy and Kirk, Edwin and Raju, Hariharan and Cunningham, Fiona and Kummerfeld, Sarah and Rath, Emma M. and Das, Debjani and Lassman, Timo and Regan, Matthew and Davis, Jason and Lipton, Jonathon and Rogers, Jonathan and Davis, Andrew and Lunke, Sebastian and Ryan, Mark and De Fazio, Paul and Macciocca, Ivan and Sandaradura, Sarah and de Silva, Michelle and MacIntyre, Paul and Schonrock, Nicole and Den Elzen, Nicola and Madelli, Evanthia O. and Scuffham, Paul and Devery, Sophie and Mallawaarachchi, Amali and Semsarian, Chris and Dobbins, Julia and Mansour, Julia and Sherburn, Isabella and Dunwoodie, Sally L. and Martin, Ellenore and Sherlock, Mary-Clare and Dwyer, Nathan and Mathew, Jacob and Singer, Emma and Elbracht-Leong, Stefanie and Mattiske, Tessa and Smerdon, Carla and Elliott, David and McGaughran, Julie and Smith, Janine (2024) A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship. Genetics in Medicine Open, 2. p. 101842. ISSN 29497744

Ma, Joanne G. and Vandenberg, Jamie I. and Ng, Chai-Ann (2023) Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes. Frontiers in Physiology, 14. ISSN 1664-042X

Kaizer, Alexander M and Winbo, Annika and Clur, Sally-Ann B and Etheridge, Susan P and Ackerman, Michael J and Horigome, Hitoshi and Herberg, Ulrike and Dagradi, Federica and Spazzolini, Carla and Killen, Stacy A S and Wacker-Gussmann, Annette and Wilde, Arthur A M and Sinkovskaya, Elena and Abuhamad, Alfred and Torchio, Margherita and Ng, Chai-Ann and Rydberg, Annika and Schwartz, Peter J and Cuneo, Bettina F (2023) Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome. Europace, 25 (11). ISSN 1099-5129

Ng, Chai-Ann and Vandenberg, Jamie I. (2022) When it takes two to get one into trouble. Heart Rhythm, 19 (2). pp.293-294. ISSN 15475271

Jiang, Connie and Richardson, Ebony and Farr, Jessica and Hill, Adam P. and Ullah, Rizwan and Kroncke, Brett M. and Harrison, Steven M. and Thomson, Kate L. and Ingles, Jodie and Vandenberg, Jamie I. and Ng, Chai-Ann (2022) A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome. The American Journal of Human Genetics, 109 (7). pp.1199-1207. ISSN 00029297

Ng, Chai-Ann and Ullah, Rizwan and Farr, Jessica and Hill, Adam P. and Kozek, Krystian A. and Vanags, Loren R. and Mitchell, Devyn W. and Kroncke, Brett M. and Vandenberg, Jamie I. (2022) A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2. The American Journal of Human Genetics, 109 (7). pp.1208-1216. ISSN 00029297

Ng, Chai-Ann and Farr, Jessica and Young, Paul and Windley, Monique J and Perry, Matthew D and Hill, Adam P and Vandenberg, Jamie I (2021) Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology. Biology Methods and Protocols, 6 (1). ISSN 2396-8923

Li, Jinyuan Vero and Ng, Chai-Ann and Cheng, Delfine and Zhou, Zijing and Yao, Mingxi and Guo, Yang and Yu, Ze-Yan and Ramaswamy, Yogambha and Ju, Lining Arnold and Kuchel, Philip W. and Feneley, Michael P. and Fatkin, Diane and Cox, Charles D. (2021) Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations. Communications Biology, 4 (1). ISSN 2399-3642

Kozek, Krystian A. and Glazer, Andrew M. and Ng, Chai-Ann and Blackwell, Daniel and Egly, Christian L. and Vanags, Loren R. and Blair, Marcia and Mitchell, Devyn and Matreyek, Kenneth A. and Fowler, Douglas M. and Knollmann, Bjorn C. and Vandenberg, Jamie I. and Roden, Dan M. and Kroncke, Brett M. (2020) High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1. Heart Rhythm. ISSN 15475271

Ng, Chai-Ann and Perry, Matthew D. and Liang, Whitney and Smith, Nicola J. and Foo, Brian and Shrier, Alvin and Lukacs, Gergely L. and Hill, Adam P. and Vandenberg, Jamie I. (2020) High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants. Heart Rhythm. pp.30853-30857. ISSN 15475271

Perry, Matthew D and Ng, Chai-Ann and Mangala, Melissa M and Ng, Timothy Y M and Hines, Adam D and Liang, Whitney and Xu, Michelle J O and Hill, Adam P and Vandenberg, Jamie I (2020) Pharmacological activation of IKr in models of long QT Type 2 risks overcorrection of repolarization. Cardiovascular Research, 116 (8). pp.1434-1445. ISSN 0008-6363

Ng, Chai-Ann and Gravel, Andrée E and Perry, Matthew D and Arnold, Alexandre A and Marcotte, Isabelle and Vandenberg, Jamie I (2016) Tyrosine residues from the S4-S5 linker of Kv11.1 channels are critical for slow deactivation. The Journal of Biological Chemistry, 291. pp.17293-17302. ISSN 1083-351X (OA)

Cox, Charles D and Bae, Chilman and Ziegler, Lynn and Hartley, Silas and Nikolova-Krstevski, Vesna and Rohde, Paul R and Ng, Chai-Ann and Sachs, Frederick and Gottlieb, Philip A and Martinac, Boris (2016) Removal of the mechanoprotective influence of the cytoskeleton reveals PIEZO1 is gated by bilayer tension. Nature Communications, 7. p. 10366. ISSN 2041-1723 (OA)

Perry, Matthew D and Ng, Chai-Ann and Mann, Stefan A and Sadrieh, Arash and Imtiaz, Mohammad and Hill, Adam P and Vandenberg, Jamie I (2015) Getting to the heart of hERG K(+) channel gating. The Journal of Physiology, 593 (12). pp.2575-85. ISSN 1469-7793 (PMC OA)

Sadrieh, Arash and Domanski, Luke and Pitt-Francis, Joe and Mann, Stefan A and Hodkinson, Emily C and Ng, Chai-Ann and Perry, Matthew D and Taylor, John A and Gavaghan, David and Subbiah, Rajesh N and Vandenberg, Jamie I and Hill, Adam P (2014) Multiscale cardiac modelling reveals the origins of notched T waves in long QT syndrome type 2. Nature Communications, 5. p. 5069. ISSN 2041-1723 (OA)