Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Christopher Gray, George E. Tiller et al.|Genetics in Medicine|2021Cited by 91
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Homa Tajsharghi, Felicitas Becker et al.|Brain|2020Cited by 32
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencingNicolas Chatron, Yohann Jourdy, Caroline Schluth‐Bolard et al.|Journal of Thrombosis and Haemostasis|2019Cited by 15
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Jill R. Murrell, Tojo Nakayama et al.|medRxiv|2020Cited by 9
Complete characterisation of two new large Xq28 duplications involving <i>F8</i> using whole genome sequencing in patients without haemophilia AYohann Jourdy, Caroline Schluth‐Bolard, Claire Bardel et al.|Haemophilia|2021Cited by 5