De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureThierry Bienvenu, Julien Thévenon, Ange‐Line Bruel et al.|European Journal of Human Genetics|2020Cited by 38
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Loïc Garçon, Florence Jobic et al.|American Journal of Medical Genetics Part A|2023Cited by 12