Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Goethe University Frankfurt
Francfort, AlemaniaPublicacións en colaboración con investigadores/as de Goethe University Frankfurt (5)
2022
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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2019
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
2014
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Common variant at 16p11.2 conferring risk of psychosis
Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215