Samantha J L Knight

Samantha J L Knight

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Samantha J L Knight

Samantha J L Knight

Publications by authors named "Samantha J L Knight"

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Clinical spectrum of -related epileptic disorders.

Neurology 2019 Mar 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

Activation of an exonic splice-donor site in exon 30 of in a patient with severe microcephaly and pigmentary abnormalities.

Clin Case Rep 2016 Oct 23;4(10):952-956. Epub 2016 Aug 23.

Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.

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http://dx.doi.org/10.1002/ccr3.663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054469PMC
October 2016

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

J Med Genet 2014 Nov 16;51(11):737-47. Epub 2014 Sep 16.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK NIHR Biomedical Research Centre, Oxford, UK Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269PMC
November 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

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http://www.nature.com/articles/ejhg2012306
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http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings.

J Cancer Res Clin Oncol 2010 Dec 15;136(12):1869-80. Epub 2010 Mar 15.

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN Wales, UK.

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http://dx.doi.org/10.1007/s00432-010-0846-3DOI Listing
December 2010

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Pediatrics 2010 Aug 19;126(2):e391-400. Epub 2010 Jul 19.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1542/peds.2009-3491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535761PMC
August 2010

The phenotype of Floating-Harbor syndrome in 10 patients.

Am J Med Genet A 2010 Apr;152A(4):821-9

Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33294DOI Listing
April 2010

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Potocki-Lupski syndrome mimicking a connective tissue disorder.

Clin Dysmorphol 2008 Jul;17(3):211-3

Magdalen College, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328303b9c2DOI Listing
July 2008

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.

Eur J Hum Genet 2007 Oct 20;15(10):1098-101. Epub 2007 Jun 20.

Unit of Pediatrics and Medical Genetics, Department for Mental Retardation, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201880DOI Listing
October 2007

Characterization of a recurrent 15q24 microdeletion syndrome.

Hum Mol Genet 2007 Mar 14;16(5):567-72. Epub 2007 Mar 14.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/hmg/ddm016DOI Listing
March 2007

The use of subtelomeric probes to study mental retardation.

Methods Cell Biol 2004 ;75:799-831

The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Headington, Oxford, Oxfordshire OX3 7BN, United Kingdom.

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http://dx.doi.org/10.1016/s0091-679x(04)75035-9DOI Listing
March 2005

Multi-telomere FISH.

Methods Mol Biol 2002 ;204:155-79

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1385/1-59259-300-3:155DOI Listing
March 2003