Publicaciones en colaboración con investigadores/as de Hospital for Sick Children (7)

2024

  1. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

    American Journal of Human Genetics, Vol. 111, Núm. 6, pp. 1206-1221

2022

  1. 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

2020

  1. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

    Pediatric Neurology, Vol. 112, pp. 94-100

  2. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112

  3. The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

    American Journal of Medical Genetics, Part A, Vol. 182, Núm. 9, pp. 2058-2067

2016

  1. Clinical delineation of the PACS1-related syndrome-Report on 19 patients

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 670-675

2011

  1. Point-of-care ultrasound in the neonatal intensive care unit: International perspectives

    Seminars in Fetal and Neonatal Medicine, Vol. 16, Núm. 1, pp. 61-68