Litcius/Paper detail

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Lauren Jeffries, Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S. Morrow, Armine Darbinyan, Krishna Iyer, Ritu B. Aul, Siddharth Banka, Katherine R. Chao, Laura C. Cobbold, Stacey Cohen, Helena Martins Custodio, Margaret Drummond‐Borg, Frances Elmslie, Erika Finanger, Bryan E. Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, M. Leach, Bryan C. Mak, David L. McCormick, Elisabeth McGee, Stanley F. Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P. Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M. Sisodiya, Karen Stals, Shelley Towner, William G. Wilson, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, J. Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz

2023Genetics in Medicine11 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationPhenotypeFrameshift mutationGene knockdownBiologyExome sequencingNeurodevelopmental disorderAlleleGeneticsGeneGenetic Syndromes and ImprintingConnective tissue disorders researchNeurogenesis and neuroplasticity mechanisms