ALBERTO
FERNANDEZ JAEN
PROFESOR
University of Washington
Seattle, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Washington (3)
2022
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling
Journal of Clinical Investigation, Vol. 132, Núm. 19
2020
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347