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CT coronary angiography to identify patients at increased risk of developing chronic kidney disease Chapman, Gavin; Gallacher, Peter; Miller-Hodges, Eve; Kimenai, Dorien; de Bakker, Marie; Tzolos, Evangelos; van Beek, Edwin; Dweck, Marc; Mills, Nicholas; Newby, David; Williams, Michelle; Dhaun, Neeraj Share Save
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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Szot, Justin O.; Cuny, Hartmut; Martin, Ella M. M. A.; Sheng, Delicia Z.; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M.; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M.; Vincent-Delorme, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S.; Tan, Tiong Y.; Pitt, James; Wise, Cheryl A.; Wright, Helen; Andrews, Israel D.; Pruniski, Brianna; Grebe, Theresa A.; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J.; Hunter, Matthew F.; Heath, Oliver; Lakhani, Saquib A.; McDermott, John H.; Ascher, David B.; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L. Share Save
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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto-Gonzalez, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles-Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz-Kienle, Halenur; Skladny, Heyko; Miller, Kristen; Riera, Miereia D. T.; Martinez, Silvia A.; Tizzano, Eduardo F.; Dupuis, Lucie; James Stavropoulos, Dimitri; McNiven, Vanda; Mendoza-Londono, Roberto; Elliott, Alison M.; Phillips, Robert S.; Chapman, Gavin; Dunwoodie, Sally L. Share Save
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice Martin, Ella M. M. A.; Enriquez, Annabelle; Sparrow, Duncan B.; Humphreys, David T.; McInerney-Leo, Aideen M.; Leo, Paul J.; Duncan, Emma L.; Iyer, Kavitha R.; Greasby, Joelene A.; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clemantine; Amiel, Jeanne; Capri, Yline; Lehalle, Daphne; Mory, Adi; Wilnai, Yael; Lebenthal, Yael; Gharavi, Ali G.; Krzemien, Grazyna G.; Miklaszewska, Monika; Steiner, Robert D.; Raggio, Cathy; Blank, Robert; Feldman, Hagit Baris; Rasouly, Hila Milo; Sobreira, Nara L. M.; Jobling, Rebekah; Gordon, Christopher T.; Giampietro, Philip F.; Dunwoodie, Sally L.; Chapman, Gavin Share Save
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders Szot, Justin O.; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R.; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A.; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria M.; Dunwoodie, Sally L. Share Save
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants Chapman, Gavin; Moreau, Julie L. M.; Ip, Eddie; Szot, Justin O.; Iyer, Kavitha R.; Shi, Hongjun; Yam, Michelle X.; O'Reilly, Victoria C.; Enriquez, Annabelle; Greasby, Joelene A.; Alankarage, Dimuthu; Martin, Ella M. M. A.; Hanna, Bernadette C.; Edwards, Matthew; Monger, Steven; Blue, Gillian M.; Winlaw, David S.; Ritchie, Helen E.; Grieve, Stuart M.; Giannoulatou, Eleni; Sparrow, Duncan B.; Dunwoodie, Sally L. Share Save
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Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease Alankarage, Dimuthu; Szot, Justin O.; Pachter, Nick; Slavotinek, Anne; Selleri, Licia; Shieh, Joseph T.; Winlaw, David; Giannoulatou, Eleni; Chapman, Gavin; Dunwoodie, Sally L. Share Save
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease Alankarage, Dimuthu; Ip, Eddie; Szot, Justin O.; Munro, Jacob; Blue, Gillian M.; Harrison, Katrina; Cuny, Hartmut; Enriquez, Annabelle; Troup, Michael; Humphreys, David T.; Wilson, Meredith; Harvey, Richard P.; Sholler, Gary F.; Graham, Robert M.; Ho, Joshua W. K.; Kirk, Edwin P.; Pachter, Nicholas; Chapman, Gavin; Winlaw, David S.; Giannoulatou, Eleni; Dunwoodie, Sally L. Share Save
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data 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. Share Save
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T.; Monaghan, Kristin G.; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C.; Stegmann, Alexander P. A.; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O.; Chapman, Gavin; Pachter, Nicholas S.; Winlaw, David S.; Mendelsohn, Bryce A.; Dalton, Joline; Sarafoglou, Kyriakie; Karachunski, Peter I.; Lewis, Jane M.; Pedro, Helio; Dunwoodie, Sally L.; Selleri, Licia; Shieh, Joseph Share Save
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