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- Journal Article
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- open access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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- Journal Article
- A1
- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia