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2016 2
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Page 1
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Johnson R, Fletcher RA, Peters S, Ohanian M, Soka M, Smolnikov A, Abihider KE, Ackerman MJ, Ader F, Akhtar MM, Amin AS, Ashley EA, Atherton JJ, Austin R, Baas AF, Bagnall RD, Ross SB, Blouin JL, Brown EE, Bundgaard H, Cannie D, Chmielewski P, Correnti G, Crespo-Leiro MG, Dal Ferro M, Dellefave-Castillo LM, Dominguez F, Dooijes D, Dybro AM, Ed Demri Y, El Hachmi M, Escobar-Lopez L, Foye SJ, Franaszczyk M, Gigli M, Lopez EG, Goudal A, Graw S, Guipponi M, Haan E, Haas J, Hammersley DJ, Hansen FG, Hayward CS, Hey TM, Heymans S, Ho CY, Houweling AC, Ingles J, Ingrey A, Jabbour A, James PA, Jansweijer JA, Jongbloed JDH, Keogh AM, Larrañaga-Moreira JM, Lekanne Deprez RH, Macciocca I, Macdonald PS, Mansencal N, Mansour J, Martinez-Veira C, McDonough B, McGaughran J, Medo K, Merlo M, Michalak E, Monserrat L, Mountain H, Muller SA, Murphy AM, Murray B, Oates EC, Ormondroyd E, Pachter N, Paldino A, Palmyre A, Pereira NL, Picard KC, Poplawski N, Prasad S, Proukhnitzky J, Pruny JF, Reant P, Richard P, Ronan A, Sedaghat-Hamedani F, Semsarian C, Storm G, Stroeks S, Syrris P, Taylor MRG, Thomson K, Thompson T, van Tintelen JP, Vissing CR, Waddell-Smith KE, Wallis M, Zentner D; Australian Genomics… See abstract for full author list ➔ Johnson R, et al. Eur Heart J. 2025 Aug 11:ehaf380. doi: 10.1093/eurheartj/ehaf380. Online ahead of print. Eur Heart J. 2025. PMID: 40796136
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: alankarage d. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
CHDgene: A Curated Database for Congenital Heart Disease Genes.
Yang A, Alankarage D, Cuny H, Ip EKK, Almog M, Lu J, Das D, Enriquez A, Szot JO, Humphreys DT, Blue GM, Ho JWK, Winlaw DS, Dunwoodie SL, Giannoulatou E. Yang A, et al. Among authors: alankarage d. Circ Genom Precis Med. 2022 Jun;15(3):e003539. doi: 10.1161/CIRCGEN.121.003539. Epub 2022 May 6. Circ Genom Precis Med. 2022. PMID: 35522174 No abstract available.
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.
Moradi Marjaneh M, Kirk EP, Patrick R, Alankarage D, Humphreys DT, Del Monte-Nieto G, Cornejo-Paramo P, Janbandhu V, Doan TB, Dunwoodie SL, Wong ES, Moran C, Martin ICA, Thomson PC, Harvey RP. Moradi Marjaneh M, et al. Among authors: alankarage d. Elife. 2023 Jun 5;12:e83606. doi: 10.7554/eLife.83606. Elife. 2023. PMID: 37272612 Free PMC article.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL. Alankarage D, et al. Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293987 Free article.
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.
Alankarage D, Leshchynska I, Portelli S, Sipka A, Blue GM, O'Reilly V, Das D, Rath EM, Enriquez A, Troup M, Fine M, Poplawski N, Verlee M, Humphreys DT, Harvey RP, Chapman G, Kirk EP, Winlaw DS, Callewaert B, Chung WK, Ascher D, Giannoulatou E, Dunwoodie SL; Australian Genomics Cardiovascular Genomics Disorders Flagship; Congenital Heart Disease Synergy Study Group. Alankarage D, et al. HGG Adv. 2025 Oct 9;6(4):100478. doi: 10.1016/j.xhgg.2025.100478. Epub 2025 Jul 5. HGG Adv. 2025. PMID: 40619738 Free PMC article.
17 results