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Seyedeh Sedigheh Abedini

Publications -  39
Citations -  2052

Seyedeh Sedigheh Abedini is an academic researcher. The author has contributed to research in topics: Disease gene identification & Gene. The author has an hindex of 14, co-authored 37 publications receiving 1789 citations.

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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

TL;DR: This finding provides the first proof that GLU(K6) is indispensable for higher brain functions in humans, and future studies of this and other ionotropic kainate receptors will shed more light on the pathophysiology of mental retardation.
Journal ArticleDOI

Genetics of intellectual disability in consanguineous families

TL;DR: This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.