Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and NephrocalcinosisDebayan Dasgupta, Clemens Bergwitz, Karl P. Schlingmann et al.|Journal of the American Society of Nephrology|2014Cited by 172
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh‐Charn Lin, Marco Tartaglia, Marcello Niceta et al.|The American Journal of Human Genetics|2020Cited by 66
Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Håkon Håkonarson, Qin Wang et al.|Science Advances|2021Cited by 32