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Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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Insufficient evidence for a role of SERPINF1 in otosclerosis
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
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Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes
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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems