Article
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Genome medicine - 21 May 2021
Mannucci Ilaria, Dang Nghi D P, Huber Hannes, Murry Jaclyn B, Abramson Jeff, Althoff Thorsten, Banka Siddharth, Baynam Gareth, Bearden David, Beleza-Meireles Ana, Benke Paul J, Berland Siren, Bierhals Tatjana, Bilan Frederic, Bindoff Laurence A, Braathen Geir Julius, Busk Øyvind L, Chenbhanich Jirat, Denecke Jonas, Escobar Luis F, Estes Caroline, Fleischer Julie, Groepper Daniel, Haaxma Charlotte A, Hempel Maja, Holler-Managan Yolanda, Houge Gunnar, Jackson Adam, Kellogg Laura, Keren Boris, Kiraly-Borri Catherine, Kraus Cornelia, Kubisch Christian, Le Guyader Gwenael, Ljungblad Ulf W, Brenman Leslie Manace, Martinez-Agosto Julian A, Might Matthew, Miller David T, Minks Kelly Q, Moghaddam Billur, Nava Caroline, Nelson Stanley F, Parant John M, Prescott Trine, Rajabi Farrah, Randrianaivo Hanitra, Reiter Simone F, Schuurs-Hoeijmakers Janneke, Shieh Perry B, Slavotinek Anne, Smithson Sarah, Stegmann Alexander P A, Tomczak Kinga, Tveten Kristian, Wang Jun, Whitlock Jordan H, Zweier Christiane, McWalter Kirsty, Juusola Jane, Quintero-Rivera Fabiola, Fischer Utz, Yeo Nan Cher, Kreienkamp Hans-Jürgen, Lessel Davor
Abstract excerpt
BACKGROUND: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. METHODS: Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and...
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