Not logged in SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum Lee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela Share Save
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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CHDgene: A Curated Database for Congenital Heart Disease Genes Yang, Andrian; Alankarage, Dimuthu; Cuny, Hartmut; Ip, Eddie K. K.; Almog, Moran; Lu, Jessica; Das, Debjani; Enriquez, Annabelle; Szot, Justin O.; Humphreys, David T.; Blue, Gillian M.; Ho, Joshua W. K.; Winlaw, David S.; Dunwoodie, Sally L.; Giannoulatou, Eleni Share Save
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
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
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
NAD Deficiency, Congenital Malformations, and Niacin Supplementation Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M. M. A.; Wang, Roni; Moreau, Julie; Lim, Chai K.; Szot, Justin O.; Ip, Eddie; Hughes, James N.; Sugimoto, Kotaro; Humphreys, David T.; McInerney-Leo, Aideen M.; Leo, Paul J.; Maghzal, Ghassan J.; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R.; Collins, Felicity; Sillence, David O.; Winlaw, David S.; Ho, Joshua W. K.; Guillemin, Gilles J.; Brown, Matthew A.; Kikuchi, Kazu; Thomas, Paul Q.; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L.; Sparrow, Duncan B.; Dunwoodie, Sally L. Share Save
The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease Blue, Gillian M.; Humphreys, David; Szot, Justin; Major, Joelene; Chapman, Gavin; Bosman, Alexis; Kirk, Edwin P.; Sholler, Gary F.; Harvey, Richard P.; Dunwoodie, Sally L.; Winlaw, David S. Share Save
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