Associated Papers
Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.
Wang Z et al.
Genetics Research, 2025
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM et al.
Journal of Medical Genetics, 2023
Are SHROOM4 loss-of-function variants pathogenic?
Peduto C et al.
American Journal of Medical Genetics. Part A, 2022
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F et al.
Journal of Medical Genetics, 2016
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