CtIP

Publications

Qvist et al. CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011 Oct;7(10):e1002310. PMID: 21998596.

Griffith et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008 Feb;40(2):232-6. PMID: 18157127.

Hassan et al. A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. Hum Genet. 2008 Feb;123(1):77-82. PMID: 18071751.

Batool et al. Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models. J Hum Genet. 2023 Jul;68(7):469-475. PMID: 36864288.

Jayaraman D et al. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 Aug 31;19:177-200. PMID: 29799801.