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.

Endothelin antagonism: stepping into the spotlight

LANCET

IF88.5

2023-11-011

OAAI

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

HUMAN MUTATION

IF3.7

2021-05-1619

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.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

HUMAN MOLECULAR GENETICS

IF3.2

2020-12-0416

OAAI

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

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-01-0133

OAAI

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

HUMAN MOLECULAR GENETICS

IF3.2

2019-12-0932

OAAI

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants

GENOMICS PROTEOMICS & BIOINFORMATICS