The Role of Hypoxia in Development of the Mammalian Embryo von Dunwoodie, Sally L.

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A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis von Sparrow, Duncan B., Chapman, Gavin, Smith, Allanceson J., Mattar, Muhammad Z., Major, Joelene A., O'Reilly, Victoria C., Saga, Yumiko, Zackai, Elaine H., Dormans, John P., Alman, Benjamin A., McGregor, Lesley, Kageyama, Ryoichiro, Kusumi, Kenro, Dunwoodie, Sally L.

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Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction von Janbandhu, Vaibhao, Tallapragada, Vikram, Patrick, Ralph, Li, Yanzhen, Abeygunawardena, Dhanushi, Humphreys, David T., Martin, Ella M.M.A., Ward, Alexander O., Contreras, Osvaldo, Farbehi, Nona, Yao, Ernestene, Du, Junjie, Dunwoodie, Sally L., Bursac, Nenad, Harvey, Richard P.

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Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development von Dunwoodie, Sally L, Bozon, Kayleigh, Szot, Justin O, Cuny, Hartmut

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SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation von Blewitt, Marnie E, Gendrel, Anne-Valerie, Pang, Zhenyi, Sparrow, Duncan B, Whitelaw, Nadia, Craig, Jeffrey M, Apedaile, Anwyn, Hilton, Douglas J, Dunwoodie, Sally L, Brockdorff, Neil, Kay, Graham F, Whitelaw, Emma

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Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis von CHAPMAN, Gavin, SPARROW, Duncan B, KREMMER, Elisabeth, DUNWOODIE, Sally L

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Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS von Cuny, Hartmut, Kristianto, Esther, Hodson, Mark P., Dunwoodie, Sally L.

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Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide von Blue, Gillian M, Kirk, Edwin P, Giannoulatou, Eleni, Sholler, Gary F, Dunwoodie, Sally L, Harvey, Richard P, Winlaw, David S

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Diseases of development: leveraging developmental biology to understand human disease von Dunwoodie, Sally L, Wallingford, John B

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Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice von Cuny, Hartmut, Bozon, Kayleigh, Kirk, Rosemary B, Sheng, Delicia Z, Bröer, Stefan, Dunwoodie, Sally L

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Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5 von Semsarian, Christopher, Ingles, Jodie, Ross, Samantha Barratt, Dunwoodie, Sally L, Bagnall, Richard D, Kovacic, Jason C

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Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease von Blue, Gillian M., MSc, Kirk, Edwin P., MBBS, PhD, Giannoulatou, Eleni, MEng, MPhil, DPhil, Dunwoodie, Sally L., PhD, Ho, Joshua W.K., PhD, Hilton, Desiree C.K., PhD, White, Susan M., MBBS, Sholler, Gary F., MBBS (Hons), Harvey, Richard P., PhD, Winlaw, David S., MBBS, MD

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Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants von Monger, Steven, Troup, Michael, Ip, Eddie, Dunwoodie, Sally L, Giannoulatou, Eleni

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NAD deficiency due to environmental factors or gene–environment interactions causes congenital malformations and miscarriage in mice von Cuny, Hartmut, Rapadas, Melissa, Gereis, Jessica, Martin, Ella M. M. A., Kirk, Rosemary B., Shi, Hongjun, Dunwoodie, Sally L.

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CITED2 inhibits STAT1‐IRF1 signaling and atherogenesis von Zafar, Atif, Pong Ng, Hang, Diamond‐Zaluski, Rachel, Kim, Gun‐Dong, Ricky Chan, Ernest, Dunwoodie, Sally L., Smith, Jonathan D., Mahabeleshwar, Ganapati H.

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CITED2 limits pathogenic inflammatory gene programs in myeloid cells von Pong Ng, Hang, Kim, Gun‐Dong, Ricky Chan, E., Dunwoodie, Sally L., Mahabeleshwar, Ganapati H.

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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot von Page, Donna J, Miossec, Matthieu J, Williams, Simon G, Monaghan, Richard M, Fotiou, Elisavet, Cordell, Heather J, Sutcliffe, Louise, Topf, Ana, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Dunwoodie, Sally L, Winlaw, David S, Bhattacharya, Shoumo, Breckpot, Jeroen, Devriendt, Koenraad, Gewillig, Marc, Brook, J David, Setchfield, Kerry J, Bu’Lock, Frances A, O’Sullivan, John, Stuart, Graham, Bezzina, Connie R, Mulder, Barbara J.M, Postma, Alex V, Bentham, James R, Baron, Martin, Bhaskar, Sanjeev S, Black, Graeme C, Newman, William G, Hentges, Kathryn E, Lathrop, G Mark, Santibanez-Koref, Mauro, Keavney, Bernard D

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ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data von Gudkov, Mikhail, Thibaut, Loïc, Khushi, Matloob, Blue, Gillian M, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni

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Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease von Alankarage, Dimuthu, Szot, Justin O, Pachter, Nick, Slavotinek, Anne, Selleri, Licia, Shieh, Joseph T, Winlaw, David, Giannoulatou, Eleni, Chapman, Gavin, Dunwoodie, Sally L

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A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data von Szot, Justin O, Cuny, Hartmut, Blue, Gillian M, Humphreys, David T, Ip, Eddie, Harrison, Katrina, Sholler, Gary F, Giannoulatou, Eleni, Leo, Paul, Duncan, Emma L, Sparrow, Duncan B, Ho, Joshua W K, Graham, Robert M, Pachter, Nicholas, Chapman, Gavin, Winlaw, David S, Dunwoodie, Sally L

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