SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Angelo Selicorni, Dihong Zhou et al.|The American Journal of Human Genetics|2021Cited by 90
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth Bhoj, Alain Verloès, Isabelle Thiffault et al.|European Journal of Medical Genetics|2018Cited by 35