Associated Papers
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Almubarak A et al.
Genes, 2022
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
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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