Litcius/Paper detail

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Kerith‐Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey‐Anne Evans, Pınar Bayrak‐Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N. Bainbridge, Jennifer Friedman, John Pappas, Rachel Rabin, C. Nowak, Jessica Douglas, Theodore E. Wilson, María J. Guillen Sacoto, Sureni V. Mullegama, Timothy Blake Palculict, Edwin P. Kirk, Jason Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian A. Glass, Heather C. Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P. Schaaf, Anne Slavotinek, Irina Voineagu, John C. Carey, Michael F. Buckley, Annette Schenck, Robert J. Harvey, Tony Roscioli

2022Genetics in Medicine13 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationBiologyGene knockdownExome sequencingGeneticsNeurodevelopmental disorderTranscription factorExomeGeneMutationGenomics and Rare DiseasesCongenital heart defects researchGenomic variations and chromosomal abnormalities