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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
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Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
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Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
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Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia