Associated Papers
Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture.
Aparicio JG et al.
Ophthalmic Genetics, 2025
Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.
Khowal S et al.
Journal of Neuro-oncology, 2024
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Whole exome sequencing study of a Chinese concurrent cancer family.
Yin Y et al.
Oncology Letters, 2019
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
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