Publications by authors named "Thomas Cullup"

24Publications

Reply.

Ophthalmology 2020 04;127(4):e22-e23

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children, NHS Foundation Trust and University College London, London, UK; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2019.12.020DOI Listing
April 2020

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Clin Genet 2020 03 5;97(3):509-515. Epub 2019 Dec 5.

Department of Pediatrics, Faculty of Medicine, Alexandria University Children's Hospital, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13661DOI Listing
March 2020

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Ophthalmology 2019 06 14;126(6):888-907. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
Publisher Site
http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
June 2019

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Brain 2016 09 24;139(Pt 9):e53. Epub 2016 Jun 24.

1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK 3 Department of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK 4 Randall Division of Cell and Molecular Biophysics, King's College London, British Heart Foundation Centre of Excellence, London, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww136DOI Listing
September 2016

Congenital myopathies: Natural history of a large pediatric cohort.

Neurology 2015 Jan 26;84(1):28-35. Epub 2014 Nov 26.

From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders (I.C., M.S., A.Y.M., S.A.R., V.G., C.S., F.M.), University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Neuromuscular Unit (I.C.), Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan; Muscle Pathology and Neuroimmunology Unit (L.M.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy; DNA Laboratory (T.C., M.Y.), GSTS Pathology, Guy's Hospital, London; University College London Department of Neurology (R.P.), National Hospital for Neurology and Neurosurgery, London; Wolfson Centre for Inherited Neuromuscular Diseases RJAH (C.S.), Oswestry; Department of Paediatric Neurology (H.J.), Evelina Children's Hospital, London; Randall Division for Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London; and Clinical Neuroscience Division (H.J.), IoP, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336094PMC
January 2015

Clinical utility gene card for: Vici Syndrome.

Eur J Hum Genet 2014 Mar 10;22(3). Epub 2013 Jul 10.

1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, UK [3] Clinical Neuroscience Division, IoP, King's College, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925270PMC
March 2014