Items where Author is "Lam, Lien"

Article

Hoorntje, Edgar T. and Burns, Charlotte and Marsili, Luisa and Corden, Ben and Parikh, Victoria N. and te Meerman, Gerard J. and Gray, Belinda and Adiyaman, Ahmet and Bagnall, Richard D. and Barge-Schaapveld, Daniela Q.C.M. and van den Berg, Maarten P. and Bootsma, Marianne and Bosman, Laurens P. and Correnti, Gemma and Duflou, Johan and Eppinga, Ruben N. and Fatkin, Diane and Fietz, Michael and Haan, Eric and Jongbloed, Jan D.H. and Hauer, Arnaud D. and Lam, Lien and van Lint, Freyja H.M. and Lota, Amrit and Marcelis, Carlo and McCarthy, Hugh J. and van Mil, Anneke M. and Oldenburg, Rogier A. and Pachter, Nicholas and Planken, R. Nils and Reuter, Chloe and Semsarian, Christopher and van der Smagt, Jasper J. and Thompson, Tina and Vohra, Jitendra and Volders, Paul G.A. and van Waning, Jaap I. and Whiffin, Nicola and van den Wijngaard, Arthur and Amin, Ahmad S. and Wilde, Arthur A.M. and van Woerden, Gijs and Yeates, Laura and Zentner, Dominica and Ashley, Euan A. and Wheeler, Matthew T. and Ware, James S. and van Tintelen, J. Peter and Ingles, Jodie (2023) Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation: Genomic and Precision Medicine, 16 (1). ISSN 2574-8300

Patel, Parth N. and Ito, Kaoru and Willcox, Jon A.L. and Haghighi, Alireza and Jang, Min Young and Gorham, Joshua M. and DePalma, Steven R. and Lam, Lien and McDonough, Barbara and Johnson, Renee and Lakdawala, Neal K. and Roberts, Amy and Barton, Paul J.R. and Cook, Stuart A. and Fatkin, Diane and Seidman, Christine E. and Seidman, J.G. (2021) Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. Circulation: Genomic and Precision Medicine, 14 (5). ISSN 2574-8300

Horvat, Claire and Johnson, Renee and Lam, Lien and Munro, Jacob and Mazzarotto, Francesco and Roberts, Angharad M and Herman, Daniel S and Parfenov, Michael and Haghighi, Alireza and McDonough, Barbara and DePalma, Steven R and Keogh, Anne M and Macdonald, Peter S and Hayward, Christopher S and Roberts, Amy and Barton, Paul J R and Felkin, Leanne E and Giannoulatou, Eleni and Cook, Stuart A and Seidman, Jonathan G and Seidman, Christine E and Fatkin, Diane (2019) A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. Genetics in Medicine, 21 (1). pp.133-143. ISSN 1098-3600 (Not OA)

Ito, Kaoru and Patel, Parth N and Gorham, Joshua M and McDonough, Barbara and DePalma, Steven R and Adler, Emily E and Lam, Lien and MacRae, Calum A and Mohiuddin, Syed M and Fatkin, Diane and Seidman, Christine E and Seidman, Jonathan G (2017) Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proceedings of the National Academy of Sciences of the United States of America, 114 (29). pp.7689-7694. ISSN 1091-6490 (OA)

Fatkin, Diane and Lam, Lien and Herman, Daniel S and Benson, Craig C and Felkin, Leanne E and Barton, Paul J R and Walsh, Roddy and Candan, Sukru and Ware, James S and Roberts, Angharad M and Chung, Wendy and Smoot, Leslie and Bornaun, Helen and Keogh, Anne M and Macdonald, Peter S and Hayward, Christopher S and Seidman, Jonathan G and Roberts, Amy E and Cook, Stuart A and Seidman, Christine E (2016) Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young. Progress in Pediatric Cardiology, 40. pp.41-45. ISSN 1058-9813 (PP OA)