Associated Papers
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.
Agarwala P et al.
Brain Communications, 2023
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
Zhu X et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 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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