Publications by authors named "Denice Belandres"
Article Synopsis
- The study investigates whether genetic diagnosis through next generation sequencing (NGS) helps families who have a child with a rare recessive brain disease reduce the risk of recurrence in future pregnancies.
- It involved analyzing data from families diagnosed between 2010 and 2016, where some couples opted for fetal genotyping to inform decisions about carrying pregnancies to term or electively terminating them.
- Results showed that families who used genetic testing had a lower than expected recurrence rate of disease in their subsequent pregnancies, dropping from the expected 25% to only 12%.
Current status of spent embryo media research for preimplantation genetic testing.
J Assist Reprod Genet
May 2019
Article Synopsis
- A review of recent studies shows that using spent embryo media (SEM) for preimplantation genetic testing for aneuploidy (PGT-A) has had moderate success rates, highlighting the need for better methods.
- Research indicates a varied agreement between SEM results and traditional embryo testing methods, with many studies noting a correlation of about 50-70%.
- The analysis will cover SEM collection techniques, strategies for whole genome amplification, chromosome detection, and bioinformatics tools, while suggesting enhancements to improve testing accuracy and sensitivity before clinical application of PGT-A with SEM.
Objective: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome.
Methods: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression.
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.
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