Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga‐Jauregui, James R. Lupski, Yavuz Bayram et al.|European Journal of Human Genetics|2020Cited by 39
<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Yaping Yang, Pirjo Isohanni et al.|Annals of Neurology|2021Cited by 25