Items where Author is "Cuny, Hartmut"

Dunwoodie, Sally L. and Bozon, Kayleigh and Szot, Justin O. and Cuny, Hartmut (2023) Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development. Antioxidants & Redox Signaling, 39 (16-18). pp.1108-1132. ISSN 1523-0864

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

Cuny, Hartmut and Bozon, Kayleigh and Kirk, Rosemary B. and Sheng, Delicia Z. and Bröer, Stefan and Dunwoodie, Sally L. (2022) Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice. Disease Models & Mechanisms, 16 (5). ISSN 1754-8403

Cuny, Hartmut and Kristianto, Esther and Hodson, Mark P. and Dunwoodie, Sally L. (2021) Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS. Analytical Biochemistry, 633. p. 114409. ISSN 00032697

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

Cuny, Hartmut and Rapadas, Melissa and Gereis, Jessica and Martin, Ella M. M. A. and Kirk, Rosemary B. and Shi, Hongjun and Dunwoodie, Sally L. (2020) NAD deficiency due to environmental factors or gene–environment interactions causes congenital malformations and miscarriage in mice. Proceedings of the National Academy of Sciences. p. 201916588. ISSN 0027-8424

Alankarage, Dimuthu and Ip, Eddie and Szot, Justin O and Munro, Jacob and Blue, Gillian M and Harrison, Katrina and Cuny, Hartmut and Enriquez, Annabelle and Troup, Michael and Humphreys, David T and Wilson, Meredith and Harvey, Richard P and Sholler, Gary F and Graham, Robert M and Ho, Joshua W K and Kirk, Edwin P and Pachter, Nicholas and Chapman, Gavin and Winlaw, David S and Giannoulatou, Eleni and Dunwoodie, Sally L (2018) Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genetics in Medicine, ePub. ISSN 1098-3600 (Not OA)

Cuny, Hartmut and Yu, Rilei and Tae, Han-Shen and Kompella, Shiva N and Adams, David J (2018) α-Conotoxins active at α3-containing nicotinic acetylcholine receptors and their molecular determinants for selective inhibition. British Journal of Pharmacology, 175. pp.1855-1868. ISSN 1476-5381 (OA)

Szot, Justin O and Cuny, Hartmut and Blue, Gillian M and Humphreys, David T and Ip, Eddie and Harrison, Katrina and Sholler, Gary F and Giannoulatou, Eleni and Leo, Paul J and Duncan, Emma L and Sparrow, Duncan B and Ho, Joshua W K and Graham, Robert M and Pachter, Nicholas S and Chapman, Gavin and Winlaw, David S and Dunwoodie, Sally L (2018) A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11 (3). pp. e001978. ISSN (Not OA)