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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Salem Alwadaee, Atieh Eslahi et al.|Acta Neuropathologica|2019Cited by 71
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
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E. Schneeberger, Ashley Andrews, Fanny Kortüm et al.|Brain|2020Cited by 59
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg‐Oldfors, Yalda Jamshidi, Alexandra Abramsson et al.|Human Molecular Genetics|2019Cited by 59