Items where Author is "Szot, Justin O."

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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

Szot, Justin O. and Slavotinek, Anne and Chong, Karen and Brandau, Oliver and Nezarati, Marjan and Cueto‐González, Anna M. and Patel, Millan S. and Devine, Walter P. and Rego, Shannon and Acyinena, Alicia P. and Shannon, Patrick and Myles‐Reid, Diane and Blaser, Susan and Mieghem, Tim V. and Yavuz‐Kienle, Halenur and Skladny, Heyko and Miller, Kristen and Riera, Miereia D. T. and Martínez, Silvia A. and Tizzano, Eduardo F. and Dupuis, Lucie and James Stavropoulos, Dimitri and McNiven, Vanda and Mendoza‐Londono, Roberto and Elliott, Alison M. and Phillips, Robert S. and Chapman, Gavin and Dunwoodie, Sally L. (2021) New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42 (7). pp.862-876. ISSN 1059-7794

Szot, Justin O. and Campagnolo, Carla and Cao, Ye and Iyer, Kavitha R. and Cuny, Hartmut and Drysdale, Thomas and Flores-Daboub, Josue A. and Bi, Weimin and Westerfield, Lauren and Liu, Pengfei and Leung, Tse Ngong and Choy, Kwong Wai and Chapman, Gavin and Xiao, Rui and Siu, Victoria M. and Dunwoodie, Sally L. (2020) Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. The American Journal of Human Genetics, 106 (1). pp.129-136. ISSN 00029297

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