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- 2017
- Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
- 2016
- Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
- Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
- A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
- Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
- 2015
- Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
- Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
- MAT2A Mutations predispose individuals to thoracic aortic aneurysms