Justin O Szot

Justin O Szot

Victor Chang Cardiac Research Institute - Sydney / Australia
Natural Sciences / Biological Science
AD Scientific Index ID: 4447781
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person_outline Justin O Szot's MOST POPULAR ARTICLES
1-) NAD deficiency, congenital malformations, and niacin supplementationH Shi, A Enriquez, M Rapadas, EMMA Martin, R Wang, J Moreau, CK Lim, ...New England Journal of Medicine 377 (6), 544-552, 20171772017
2-) A screening approach to identify clinically actionable variants causing congenital heart disease in exome dataJO Szot, H Cuny, GM Blue, DT Humphreys, E Ip, K Harrison, GF Sholler, ...Circulation: Genomic and Precision Medicine 11 (3), e001978, 2018592018
3-) Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseD Alankarage, E Ip, JO Szot, J Munro, GM Blue, K Harrison, H Cuny, ...Genetics in Medicine 21 (5), 1111-1120, 2019682019
4-) Notch4 reveals a novel mechanism regulating Notch signal transductionAC James, JO Szot, K Iyer, JA Major, SE Pursglove, G Chapman, ...Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research 1843 (7), 1272-1284, 2014742014
5-) De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic …A Slavotinek, M Risolino, M Losa, MT Cho, KG Monaghan, ...Human molecular genetics 26 (24), 4849-4860, 2017522017