Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Hesham Aldhalaan, Bruno Reversade et al.|Nature Communications|2020Cited by 55
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, Damien Haye et al.|European Journal of Medical Genetics|2018Cited by 35