| NAD deficiency, congenital malformations, and niacin supplementation H Shi, A Enriquez, M Rapadas, EMMA Martin, R Wang, J Moreau, CK Lim, ... New England Journal of Medicine 377 (6), 544-552, 2017 | 238 | 2017 |
| A screening approach to identify clinically actionable variants causing congenital heart disease in exome data JO Szot, H Cuny, GM Blue, DT Humphreys, E Ip, K Harrison, GF Sholler, ... Circulation: Genomic and Precision Medicine 11 (3), e001978, 2018 | 81 | 2018 |
| Notch4 reveals a novel mechanism regulating Notch signal transduction AC James, JO Szot, K Iyer, JA Major, SE Pursglove, G Chapman, ... Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research 1843 (7), 1272-1284, 2014 | 74 | 2014 |
| Identification of clinically actionable variants from genome sequencing of families with congenital heart disease D Alankarage, E Ip, JO Szot, J Munro, GM Blue, K Harrison, H Cuny, ... Genetics in Medicine 21 (5), 1111-1120, 2019 | 73 | 2019 |
| 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, 2017 | 50 | 2017 |
| Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants G Chapman, JLM Moreau, E Ip, JO Szot, KR Iyer, H Shi, MX Yam, ... Human Molecular Genetics 29 (4), 566-579, 2020 | 46 | 2020 |
| Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders JO Szot, C Campagnolo, Y Cao, KR Iyer, H Cuny, T Drysdale, ... The American Journal of Human Genetics 106 (1), 129-136, 2020 | 39 | 2020 |
| Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease D Alankarage, JO Szot, N Pachter, A Slavotinek, L Selleri, JT Shieh, ... Human molecular genetics 29 (7), 1068-1082, 2020 | 32 | 2020 |
| New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder JO Szot, A Slavotinek, K Chong, O Brandau, M Nezarati, ... Human mutation 42 (7), 862-876, 2021 | 21 | 2021 |
| CHDgene: a curated database for congenital heart disease genes A Yang, D Alankarage, H Cuny, EKK Ip, M Almog, J Lu, D Das, A Enriquez, ... Circulation: Genomic and Precision Medicine 15 (3), e003539, 2022 | 15 | 2022 |
| The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease GM Blue, D Humphreys, J Szot, J Major, G Chapman, A Bosman, EP Kirk, ... International Journal of Cardiology 230, 155-163, 2017 | 12 | 2017 |
| A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder JO Szot, H Cuny, EMMA Martin, DZ Sheng, K Iyer, S Portelli, V Nguyen, ... The Journal of Clinical Investigation 134 (4), 2024 | 2 | 2024 |
| Nicotinamide adenine dinucleotide deficiency and its impact on mammalian development SL Dunwoodie, K Bozon, JO Szot, H Cuny Antioxidants & Redox Signaling 39 (16), 1108-1132, 2023 | 1 | 2023 |
| NAD deficiency, congenital malformations, and niacin supplementation. SHJ Shi HongJun, A Enriquez, M Rapadas, E Martin, WRN Wang RoNi, ... | | 2017 |
| Identifying the Genetic Causes of Congenital Heart Disease JO Szot UNSW Sydney, 2017 | | 2017 |
