Publications by authors named "Clare V Logan"

45Publications

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Hum Mutat 2019 08 23;40(8):1063-1070. Epub 2019 Jun 23.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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August 2019

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Am J Med Genet A 2018 02 19;176(2):465-469. Epub 2017 Dec 19.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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February 2018

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Am J Hum Genet 2016 Oct 29;99(4):984-990. Epub 2016 Sep 29.

Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK; School of Dentistry, Department of Oral Biology, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK. Electronic address:

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October 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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April 2016

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

J Allergy Clin Immunol 2016 Mar 10;137(3):955-7.e8. Epub 2015 Nov 10.

Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; School of Dentistry, University of Leeds, Leeds, United Kingdom. Electronic address:

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March 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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August 2015

Mutations in TJP2 cause progressive cholestatic liver disease.

Nat Genet 2014 Apr 9;46(4):326-8. Epub 2014 Mar 9.

1] Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK. [2] Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.

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April 2014

A meckelin-filamin A interaction mediates ciliogenesis.

Hum Mol Genet 2012 Mar 25;21(6):1272-86. Epub 2011 Nov 25.

Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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March 2012

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Mol Neurobiol 2011 Feb 27;43(1):12-26. Epub 2010 Nov 27.

Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

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February 2011

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

J Cell Sci 2009 Aug 13;122(Pt 15):2716-26. Epub 2009 Jul 13.

Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK.

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August 2009