Fitzgerald et al., 2015 - Large-scale discovery of novel genetic causes of developmental disorders. Nature   519(7542):223-228 Full text @ Nature
24 Genes / Markers
Marker Type Symbol Name
Gene btbd9 BTB (POZ) domain containing 9
Gene chd3 chromodomain helicase DNA binding protein 3
Gene cnot1 CCR4-NOT transcription complex, subunit 1
Gene ddx3xb DEAD-box helicase 3 X-linked b
Gene dpep2 dipeptidase 2
Gene dtwd2 DTW domain containing 2
Gene etf1b eukaryotic translation termination factor 1b
Gene fryl furry homolog, like
Gene ilvbl ilvB (bacterial acetolactate synthase)-like
Gene nono non-POU domain containing, octamer-binding
Gene pkn2a protein kinase N2a
Gene pogza pogo transposable element derived with ZNF domain a
Gene psd2 pleckstrin and Sec7 domain containing 2
Gene psmd3 proteasome 26S subunit, non-ATPase 3
Gene sap130a Sin3A-associated protein a
Gene sap130b Sin3A-associated protein b
Gene scgn secretagogin, EF-hand calcium binding protein
Gene setd5 SET domain containing 5
Gene smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Gene thnsl2 threonine synthase-like 2
Gene tp53 tumor protein p53
Gene wwc1 WW and C2 domain containing 1
Gene zranb1a zinc finger, RAN-binding domain containing 1a
Gene zranb1b zinc finger, RAN-binding domain containing 1b