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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
The performance of Platypus is demonstrated by comparing with SAMtools and GATK on whole-genome and exome-capture data, by identifying de novo variation in 15 parent-offspring trios with high sensitivity and specificity, and by estimating human leukocyte antigen genotypes directly from variant calls.
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
- S. Twigg, R. Kan, A. Wilkie
- Biology, MedicineProceedings of the National Academy of Sciences…
- 8 June 2004
It is proposed that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephin-B 1, an alternative mechanism maintains the normal boundary.
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
The spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
A Genetic-Pathophysiological Framework for Craniosynostosis.
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
The first cohort-based analysis of the impact of genetic disorders in craniosynostosis is described and genetic testing of nonsyndromic cases should be targeted to patients with coronal or multisuture synostoses.
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Ectopic expression of KGFR in the fibroblast lines correlated with the severity of limb abnormalities provides the first genetic evidence that signaling through KG FR causes syndactyly in Apert syndrome.
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
Reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2, causes complex craniosynostosis in humans and mice and is identified as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes.
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
It is suggested that PFM and craniosynostosis result, respectively, from loss and gain of activity in an MSX2-mediated pathway of calvarial osteogenic differentiation.