Clinical and Molecular Phenotype of Aicardi-Goutières SyndromeGillian Rice, Rasieka Jayatunga, Alec Aeby et al.|The American Journal of Human Genetics|2007Cited by 449
Regional Sympathetic Nervous Activity and Oxygen Consumption in Obese Normotensive Human SubjectsMário Vaz, Murray Esler, Garry Jennings et al.|Circulation|1997Cited by 404
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingKaren Stals, Sian Ellard, Matthew N. Wakeling et al.|Prenatal Diagnosis|2017Cited by 78
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Tobias B. Haack, Fubo Cheng et al.|Brain|2024Cited by 10