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A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

artículo científico publicado en 2017

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

artículo científico publicado en 2019

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

artículo científico publicado en 2018

Deciphering congenital anomalies for the next generation

scientific article published on 21 August 2020

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

artículo científico publicado en 2020

Genetic diagnosis in the fetus

artículo científico publicado en 2020

Genomic Insights into Stillbirth

scientific article published on 12 August 2020

Infant mortality: the contribution of genetic disorders

scientific article published on 08 August 2019

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology

scientific article published on 03 August 2018

The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?

scientific article published on 15 September 2020

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

artículo científico publicado en 2018

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