Associated Papers
Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.
Heathfield LJ et al.
International Journal of Legal Medicine, 2024
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2023
36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.
Bogari NM et al.
Frontiers in Genetics, 2020
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
Dello Russo C et al.
Journal of Prenatal Medicine, 0
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