Výsledky vyhledávání - Justin O. Szot
- Zobrazuji výsledky 1 - 8 z 8
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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders Autor Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie
Vydáno 2019Artigo -
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A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data Autor Justin O. Szot, Hartmut Cuny, Gillian M. Blue, David T. Humphreys, Eddie Ip, Katrina Harrison, Gary F. Sholler, Eleni Giannoulatou, Paul Leo, Emma L. Duncan, Duncan B. Sparrow, Joshua W. K. Ho, Robert M. Graham, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Sally L. Dunwoodie
Vydáno 2018Artigo -
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Identification of clinically actionable variants from genome sequencing of families with congenital heart disease Autor Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie
Vydáno 2018Artigo -
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Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants Autor Gavin Chapman, Julie Moreau, I P Eddie, Justin O. Szot, Kavitha R. Iyer, Hongjun Shi, Michelle Yam, Victoria C. O׳Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella MMA Martin, Bernadette Hanna, Matthew Edwards, Steven Monger, Gillian M. Blue, David S. Winlaw, Helen E. Ritchie, Stuart M. Grieve, Eleni Giannoulatou, Duncan B. Sparrow, Sally L. Dunwoodie
Vydáno 2019Artigo -
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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... Autor Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh
Vydáno 2017Artigo -
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NAD Deficiency, Congenital Malformations, and Niacin Supplementation Autor Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella MMA Martin, Roni Wang, Julie Moreau, Chai K. Lim, Justin O. Szot, Eddie Ip, James N. Hughes, Kotaro Sugimoto, David T. Humphreys, Aideen M. McInerney‐Leo, Paul Leo, Ghassan J. Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R. Mark, Felicity Collins, David Sillence, David S. Winlaw, Joshua W. K. Ho, Gilles J. Guillemin, Matthew A. Brown, Kazu Kikuchi, Paul Q. Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L. Duncan, Duncan B. Sparrow, Sally L. Dunwoodie
Vydáno 2017Artigo -
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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Autor Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie
Vydáno 2024Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Phenotype
Medicine
Biochemistry
Bioinformatics
Disease
Enzyme
Heart disease
Internal medicine
NAD+ kinase
Exome
Exome sequencing
Genotype
Missense mutation
Mutant
Mutation
Nicotinamide
Nicotinamide adenine dinucleotide
Notch signaling pathway
Null allele
Allele
Amino acid
Cell biology
Cohort
Complementation
Computational biology
Etiology
Gene knockin