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Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.
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A new locus underlying Auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
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The developing mouse coronal suture at single-cell resolution.
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Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
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Erf affects commitment and differentiation of osteoprogenitor cells in cranial sutures via the retinoic acid pathway.
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The developing mouse coronal suture at single-cell resolution
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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
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Genome-wide association (GWAS) meta-analysis of skull bone mineral density identifies determinants of osteoporosis and craniosynostsis
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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
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A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.
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BMP2 or not BMP2? A SMAD6-related question in craniosynostosis
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Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes: overlapping disorders caused by somatic mutations in hedgehog-signalling genes - the mosaic Hedgehog spectrum.
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Recurrent mosaic SMO mutation in two patients confirms Happle-Tinschert Syndrome as a variant of Curry-Jones Syndrome
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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
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