Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Antonio Miranda‐Vizuete, Tobias B. Haack et al.|The American Journal of Human Genetics|2016Cited by 125
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Yuanping Du, Clara Savary et al.|Brain|2018Cited by 59
SURFBAT: a surrogate family based association test building on large imputation reference panelsAnthony F. Herzig, Simone Rubinacci, Gaëlle Marenne et al.|G3 Genes Genomes Genetics|2024Cited by 3