Associated Papers
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T et al.
Clinical Genetics, 2023
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Sorokina EA et al.
Human Genetics, 2021
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E et al.
Clinical Genetics, 2020
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O et al.
American Journal of Human Genetics, 2019
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Reis LM et al.
American Journal of Human Genetics, 2019
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