Suzanne Lillis

Suzanne Lillis

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Suzanne Lillis

Suzanne Lillis

Publications by authors named "Suzanne Lillis"

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15Publications

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Post-mortem Characterisation of a Case With an Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.

Front Physiol 2019 24;10:623. Epub 2019 May 24.

Centre for the Developing Brain, Division of Imaging Sciences and Biomedical Engineering, King's College London, St Thomas' Hospital, London, United Kingdom.

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http://dx.doi.org/10.3389/fphys.2019.00623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558385PMC
May 2019

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Pediatr Neurol 2015 May 7;52(5):548-51. Epub 2015 Feb 7.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.018DOI Listing
May 2015

Genetic and functional diversity of propagating cells in glioblastoma.

Stem Cell Reports 2015 Jan 18;4(1):7-15. Epub 2014 Dec 18.

Centre for Evolution and Cancer, Division of Molecular Pathology, The Institute of Cancer Research, London SM2 5NG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297869PMC
January 2015

Clinical utility gene card for: Central core disease.

Eur J Hum Genet 2012 Feb 12;20(2). Epub 2011 Oct 12.

GSTS Pathology, Guy's Hospital, Great Maze Pond, London, UK.

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http://www.nature.com/articles/ejhg2011179
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http://dx.doi.org/10.1038/ejhg.2011.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260933PMC
February 2012

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.03.006DOI Listing
June 2011

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Neuromuscul Disord 2010 Jan 22;20(1):49-52. Epub 2009 Nov 22.

Clinical Neuroscience Division, King's College, London, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900658
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http://dx.doi.org/10.1016/j.nmd.2009.10.005DOI Listing
January 2010

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Hum Mutat 2009 Sep;30(9):1267-77

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.

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http://dx.doi.org/10.1002/humu.21059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784950PMC
September 2009