Paul P. R. Iyyanar

The paper identifies synergistic variants in CTBP1 and ALPL causing mandibular hypoplasia through impaired Wnt signaling in a mouse model.

The paper identifies a TGFBR2 variant in patients with micrognathia and cleft palate, tests its causality in mice, and finds it does not cause craniofacial anomalies, highlighting challenges in translating genetic findings to models.

The paper identifies Cse1l as critical for neural crest cell survival, showing that its genetic ablation leads to embryonic lethality and increased apoptosis with p53 expression.