Associated Papers
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L et al.
Hgg Advances, 2023
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Harvey DC et al.
Frontiers in Cardiovascular Medicine, 2023
37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1
Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.
Ecovoiu AA et al.
International Journal of Molecular Sciences, 2022
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes.
Rao VG et al.
Genesis (new York, N.y. : 2000), 2021
Xenopus as a platform for discovery of genes relevant to human disease.
Kostiuk V et al.
Current Topics in Developmental Biology, 2021
Novel insights into the genetic landscape of congenital heart disease with systems genetics.
Gabriel GC et al.
Progress in Pediatric Cardiology, 2019
WDR5 regulates left-right patterning via chromatin-dependent and -independent functions.
Kulkarni SS et al.
Development (cambridge, England), 2018
Cilia and Ciliopathies in Congenital Heart Disease.
Klena NT et al.
Cold Spring Harbor Perspectives in Biology, 2017
High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.
Zhu JY et al.
Elife, 2017
De novo mutations in histone-modifying genes in congenital heart disease.
Zaidi S et al.
Nature, 2013
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