Publications


Neurodevelopmental disorders (by gene)

GPI biosynthesis: GPAA1, PGAP2, PIGB, PIGC, PIGF, PIGH, PIGK, PIGL, PIGN, PIGP, PIGQ, PIGS, multiple

SWI-SNF complex: ACTL6A, ACTL6B, ARID1B, SMARCB1, SMARCC2, SMARCD1

Other epigenetic: BCL11B, BRPF1, CHD3, CHD4, CHD7, HDAC4, JARID2, KAT5, KAT6A, KAT6B, KAT8, TRRAP

Other, mostly epilepsy genes: ATP6V1B2, DDX3X, FAM172A, FGF12, FRMPD4, GOT2, IQSEC2,

KCNJ8, KCNH1, KCNN3, MAF, OXR1, POU3F2, SYN1, TBC1D24, TUBB3, UBE3B, UBR7, VPS13D


Musculoskeletal diseases (by gene)

ALG12, ANAPC1, B3GALT6, COL2A1, DDRGK1, FGFR1, FIG4, FN1, GALNS

GLE1, IFITM5, LBR, MYOD1, PAX7, PDGFRB, PLOD2, POLR3GL, PGM3, RNU4ATAC,

SLC29A3, SP7, TONSL, VAC14, WNT1, Scoliosis, Osteoporosis and OI

Funding

FRQS, CIHR, Epilepsy Canada

Fondation du Grand Défi Pierre Lavoie

Quebec Network for Oral and Bone Health Research