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- 2017
- Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
- ACTB loss-of-function mutations result in a pleiotropic developmental disorder
- Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
- 2016
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
- Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
- 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
- Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
- A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
- 2015
- Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia