Cherith Somerville^1,2, Kelsey Kalbfleisch^1,2, Roozbeh Manshaei^1,2, Qiliang Ding^1,2, John B.A. Okello^1,2,3, Rachel Silver⁴, David Chitayat^2,4, Varsha Thakur⁵, Olivier Villemain^5,6,7, Rebekah Jobling^1,2,8,*

Congenital Heart Disease, Vol.18, No.2, pp. 213-218, 2023, DOI:10.32604/chd.2023.023042

Abstract We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child. Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling. This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype. More >

Riaz Ahmad¹, Muhammad Akbar Anjum^1,*, Rashad Mukhtar Balal²

Phyton-International Journal of Experimental Botany, Vol.89, No.2, pp. 183-204, 2020, DOI:10.32604/phyton.2020.08537

Abstract Molecular markers, genome sequencing and genome editing are considered as efficient tools to accomplish demands of plant breeders for crop improvement programs. Morphological and biochemical markers have not been extensively used as these are greatly influenced by environmental factors. Different molecular markers and sequencing techniques are routinely used in evaluation of genetic diversity and evolutionary relationship, accurate classification or taxonomy, characterization of germplasm, identification of hybrids and phylogenetic studies. Desired and undesired traits controlled by genes can be identified through different molecular markers technology all over the globe. These molecular markers are well established and have successfully been used for… More >