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- W4247789449 abstract "Clinical genetics and neurology have always worked closely since neurological presentations are the most frequent phenotypic expression of genetic perturbation in humans. “Vulnerability in complexity” applies readily to the complex human nervous system, which is vulnerable to a very wide array of genetic insults. The evolution of this insight closely follows the evolution of clinical genetics from karyotype- and single gene-based to the genomics-based field it is currently. Old labels such as developmental delay, intellectual disability and cerebral palsy are being refined at an unprecedented pace to their individual molecular components thanks to the widespread application of clinical genomics tools that circumvent the human fallibility inherent to the unaided clinical approaches of the past. Despite the massive input from outbred populations into this race to deconvolute neurological disorders molecularly, there remains a considerable gap in our knowledge of the molecular underpinning of normal neurological development and function that can only be filled by exploring recessive disorders that are exceedingly rare. Consanguineous populations, which are enriched for autozygosity and thus the right set up for unmasking the recessiveness of highly informative deleterious alleles, have much to contribute, therefore, to molecular precision in neurology as I will highlight in this presentation." @default.
- W4247789449 created "2022-05-12" @default.
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- W4247789449 date "2019-10-01" @default.
- W4247789449 modified "2023-10-05" @default.
- W4247789449 title "Neurogenetics" @default.
- W4247789449 doi "https://doi.org/10.1016/j.jns.2019.10.002" @default.
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