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  1. Article

    Open Access

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are of...

    Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor… in Genome Medicine (2023)

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  2. No Access

    Article

    A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

    Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second ...

    Cristina M. Justice, Araceli Cuellar, Krithi Bala, Jeremy A. Sabourin… in Human Genetics (2020)

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    Article

    Perrault syndrome: further evidence for genetic heterogeneity

    Emma M. Jenkinson, Jill Clayton-Smith, Sarju Mehta… in Journal of Neurology (2012)

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    Article

    Carole H Browner, H Mabel Prelora: Neurogenetic diagnoses: the power of hope, and the limits of today’s medicine

    Karen Forrest Keenan, Deirdre Cilliers in Human Genetics (2010)

  5. No Access

    Article

    Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

    17q11 microdeletions that encompass NF1 cause 5%–10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that ...

    Jenny Douglas, Deirdre Cilliers, Kim Coleman, Katrina Tatton-Brown… in Nature Genetics (2007)