SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
2022 · Genetics in Medicine · 35 citations
https://doi.org/10.1016/j.gim.2022.02.013
R
Reem Al‐Jawahiri
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Reem Al‐Jawahiri is an academic researcher from MRC Cognition and Brain Sciences Unit. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Congenital heart defects research & Genomic variations and chromosomal abnormalities. The author has an h-index of 7, co-authored 17 publications.
ORCID: 0000-0002-5689-3368Papers by this author
worksCorrelation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder
2024 · EBioMedicine · 7 citations
https://doi.org/10.1016/j.ebiom.2024.105416
Polycomb-associated and Trithorax-associated developmental conditions—phenotypic convergence and heterogeneity
2025 · European Journal of Human Genetics · 2 citations
https://doi.org/10.1038/s41431-025-01784-2
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