Publications by authors named "Richard Caswell"

47Publications

Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

Am J Ophthalmol 2020 10 20;218:255-260. Epub 2020 May 20.

Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.

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October 2020

Using Structural Analysis to Assess the Impact of Missense Variants in MEN1.

J Endocr Soc 2019 Dec 27;3(12):2258-2275. Epub 2019 Sep 27.

Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.

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December 2019

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Hum Mol Genet 2019 11;28(21):3543-3551

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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November 2019

Copy number variation of in familial dystonic tremor.

Neurol Genet 2019 Feb 4;5(1):e307. Epub 2019 Feb 4.

Medical Research (Level 4) (V.A., B.A.C., G.V.H., H.H., A.S.-N., J.K.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, United Kingdom; Reta Lila Weston Institute of Neurological Studies (V.A., T.T.W.), UCL Institute of Neurology, London, United Kingdom; Department of Neurology (T.I.), Government Medical College, Thiruvananthapuram, Kerala, India; Department of Anatomy and Microbiology (R.S.), Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; Clinical Neuroscience (C.P.), Royal Free Campus, UCL Institute of Neurology, London, United Kingdom; Institute of Psychological Medicine and Clinical Neurosciences (K.P.), Cardiff University, Cardiff, United Kingdom; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.N.C.), Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY; Institute of Biomedical and Clinical Science (R.C., H.L.A., M.W.), University of Exeter Medical School, United Kingdom; and Departments of Neurology and Chronic Disease Epidemiology and Center for Neuroepidemiology and Clinical Neurological Research (E.D.L.), Yale School of Medicine and Yale School of Public Health, Yale University, New Haven, CT.

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February 2019

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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June 2017

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.

J Clin Endocrinol Metab 2016 05 16;101(5):1927-30. Epub 2016 Mar 16.

Pediatrics and Child Health (C.R.), University of Manitoba, Winnipeg MB R3E 0Z2, Canada; Department of Pediatrics (M.M.), Centre mère-enfant Soleil, Centre Hospitalier de l'Université de Quebec, QC G1V 4G2, Canada; Endocrinology (D.I., C.E.S., S.B., J.E., M.K.), Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; Department of Pathology (S.A.), McGill University, Montreal QC H4A 2J1, Canada; Molecular Genetics (R.C., B.B., S.E.), University of Exeter, Exeter EX4 4SB, United Kingdom; Institute of Medical Genetics (S.J., J.S.), School of Medicine, Cardiff University, Cardiff CF10 3XQ, United Kingdom; Centre de Pathologie Est (J.T.), Hospices Civils de Lyon, University of Lyon, 69622 Lyon, France; and Neuropathology (F.R.), University of Manchester, Manchester M13 9PL, United Kingdom.

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May 2016

Pitfalls of haplotype phasing from amplicon-based long-read sequencing.

Sci Rep 2016 Feb 17;6:21746. Epub 2016 Feb 17.

University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK.

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February 2016

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Eur J Hum Genet 2015 Dec 12;23(12):1744-8. Epub 2015 Aug 12.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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December 2015

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Eur J Hum Genet 2015 Mar 25;23(3):401-4. Epub 2014 Jun 25.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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March 2015

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nat Genet 2011 Dec 11;44(1):20-22. Epub 2011 Dec 11.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.

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December 2011

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

Prenat Diagn 2008 May;28(5):384-8

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.

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May 2008

Posttranscriptional suppression of interleukin-6 production by human cytomegalovirus.

J Virol 2005 Jan;79(1):472-85

Cardiff School of Biosciences, Cardiff University, Cardiff, Wales, United Kingdom.

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January 2005

Analysis of the human herpesvirus-6 immediate-early 1 protein.

J Gen Virol 2002 Nov;83(Pt 11):2811-2820

Department of Medical Microbiology1 and Section of Infection and Immunity2, University of Wales College of Medicine, Tenovus Building, Heath Park, Cardiff CF14 4XN, UK.

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November 2002