Associated Papers
CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families.
Archer J et al.
Genes, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy.
D'Alessandro M et al.
Brain Communications, 2025
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK et al.
Nature Genetics, 2024
39313616 (PubMed )
Supplement: 41588_2024_1910_MOESM4_ESM.xlsx › Supp_Table_6
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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