Pola Smirin-Yosef

TL;DR: It is suggested that the nonsense mutation identified accounts for the POI phenotype, highlighting the importance of the synaptonemal complex and meiosis in ovarian function.

TL;DR: It is shown that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF3 complex, and this findings directly link intellectual disability to impaired translation initiation.

TL;DR: It is concluded that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies.

TL;DR: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.

TL;DR: A stop-gain homozygous mutation in the SPIDR gene revealed that a biallelic mutation in this gene may be associated with ovarian dysgenesis in cases of autosomal recessive inheritance and is important for ovarian function in humans.