Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type IIIDavid B. Simon, Richard P. Lifton, Juan Rodríguez‐Soriano et al.|Nature Genetics|1997Cited by 869
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T. Wilson, Ian Wilson, Zornitza Stark et al.|Genetics in Medicine|2015Cited by 172
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Julie Vogt, Gemma Poke et al.|Journal of Medical Genetics|2014Cited by 171
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Nataliya Di Donato, Tahsin Stefan Barakat et al.|Nature Reviews Neurology|2020Cited by 137
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura Vandervore, Grazia M.S. Mancini, Rachel Schot et al.|The American Journal of Human Genetics|2019Cited by 48