1. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
   Cécile Méjécase et al, 2019, Clinical Genetics CrossRef
2. Fetal Brain Structure and CNS Anomalies
   Ritsuko K Pooh et al, 2022, Donald School Journal of Ultrasound in Obstetrics and Gynecology CrossRef
3. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family
   Muhammad Ismail Khan et al, 2021, The Journal of Gene Medicine CrossRef
4. Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants
   Zena Lam et al, 2020, Clinical Dysmorphology CrossRef
5. Neuroimaging and Genetics in Brain Maldevelopment
   Ritsuko K. Pooh, 2021, Fetal Morph Functional Diagnosis CrossRef
6. Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
   Miguel Barroso‐Gil et al, 2021, Molecular Genetics & Genomic Medicine CrossRef
7. Review of Ocular Manifestations of Joubert Syndrome
   Stephanie F. Wang et al, 2018, Genes CrossRef