Items where Author is "Winlaw, David S."
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Gudkov, Mikhail and Thibaut, Loïc and Khushi, Matloob and Blue, Gillian M. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2023) ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data. BMC Bioinformatics, 24 (1). ISSN 1471-2105
Ip, Eddie K. K. and Troup, Michael and Xu, Colin and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application. Frontiers in Genetics, 13. ISSN 1664-8021
Yang, Andrian and Alankarage, Dimuthu and Cuny, Hartmut and Ip, Eddie K.K. and Almog, Moran and Lu, Jessica and Das, Debjani and Enriquez, Annabelle and Szot, Justin O. and Humphreys, David T. and Blue, Gillian M. and Ho, Joshua W.K. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) CHDgene: A Curated Database for Congenital Heart Disease Genes. Circulation: Genomic and Precision Medicine, 15 (3). ISSN 2574-8300
Blue, Gillian M. and Ip, Eddie K.K. and Troup, Michael and Dale, Russell C. and Sholler, Gary F. and Harvey, Richard P. and Dunwoodie, Sally L. and Giannoulatou, Eleni and Winlaw, David S. (2022) Insights into the genetic architecture underlying complex, critical congenital heart disease. American Heart Journal, 254. pp.166-171. ISSN 00028703
Blue, Gillian M. and Mekel, Mauk and Das, Debjani and Troup, Michael and Rath, Emma and Ip, Eddie and Gudkov, Mikhail and Perumal, Gopinath and Harvey, Richard P. and Sholler, Gary F. and Gecz, Jozef and Kirk, Edwin P. and Liu, Jinfen and Giannoulatou, Eleni and Hong, Haifa and Dunwoodie, Sally L. and Winlaw, David S. (2022) Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. American Heart Journal, 244. pp.1-13. ISSN 00028703
Morrish, Ansley M. and Smith, Janine and Enriquez, Annabelle and Sholler, Gary F. and Mervis, Jonathan and Dunwoodie, Sally L. and Kirk, Edwin P. and Winlaw, David S. and Blue, Gillian M. (2022) A new era of genetic testing in congenital heart disease: A review. Trends in Cardiovascular Medicine, 32 (5). pp.311-319. ISSN 10501738