Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Stylianos E. Antonarakis, Reza Maroofian et al.|European Journal of Human Genetics|2018Cited by 69
Somatic mosaicism reveals clonal distributions of neocortical developmentMartin W. Breuss, Michael A. Lodato, Valentina Stanley et al.|Nature|2022Cited by 62
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G. Ghosh, Joseph G. Gleeson, Sangmoon Lee et al.|Genetics in Medicine|2020Cited by 37
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Joseph G. Gleeson, Dillon Y. Chen et al.|The American Journal of Human Genetics|2019Cited by 23