Latest Publications

Missense variant of endoplasmic reticulum region of WFS1 gene causes autosomal dominant hearing loss without syndromic phenotype

Nkx2.3 Transcription factor is a key regulator of mucous cell identity in salivary glands

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4

Ouabain induces transcript changes and activation of RhoA/ROCK signaling in cultured epithelial cells (MDCK)

A missense variation in PHACTR2 associates with impaired actin dynamics, dilated cardiomyopathy, and left ventricular non-compaction in humans

Genetic load of alternations of transcription factor genes in non-syndromic deafness and the associated clinical phenotypes: experience from two tertiary referral centers

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup

Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia

FOXP3 exon 2 controls Treg stability and autoimmunity

hnRNPH1 recruites PTBP2 and SRSF3 to modulate alternative splicing in germ cells

DNA damage-induced block of sporulation in Streptomyces venezuelae involves downregulation of ssgB