Kate Chandler

Kate Chandler

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Kate Chandler

Kate Chandler

Publications by authors named "Kate Chandler"

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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Am J Med Genet A 2017 Nov 25;173(11):3003-3012. Epub 2017 Sep 25.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.38492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555908PMC
November 2017

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

Eur J Med Genet 2017 Oct 12;60(10):527-532. Epub 2017 Jul 12.

Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9PL, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173026
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http://dx.doi.org/10.1016/j.ejmg.2017.07.009DOI Listing
October 2017

My year as a Fulbrighter.

Authors:
Kate Chandler

Vet Rec 2016 Jul;179(2):i-ii

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http://veterinaryrecord.bmj.com/lookup/doi/10.1136/vr.i3747
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http://dx.doi.org/10.1136/vr.i3747DOI Listing
July 2016

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

Eur J Paediatr Neurol 2016 Mar 18;20(2):286-295. Epub 2015 Dec 18.

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.11.012DOI Listing
March 2016

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

Am J Med Genet A 2016 Jan 23;170A(1):170-5. Epub 2015 Sep 23.

Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.37400
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http://dx.doi.org/10.1002/ajmg.a.37400DOI Listing
January 2016

A Fulbright Scholar in New York.

Authors:
Kate Chandler

Vet Rec 2015 Sep;177(9):i-ii

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http://veterinaryrecord.bmj.com/lookup/doi/10.1136/vr.h4688
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http://dx.doi.org/10.1136/vr.h4688DOI Listing
September 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

CRTAP mutation in a patient with Cole-Carpenter syndrome.

Am J Med Genet A 2015 Mar 21;167A(3):587-91. Epub 2015 Jan 21.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.36916DOI Listing
March 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.

Br J Haematol 2014 Sep 3;166(6):807. Epub 2014 Jul 3.

Department of Imaging Science, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/bjh.12996
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http://dx.doi.org/10.1111/bjh.12996DOI Listing
September 2014

Raine syndrome: an overview.

Eur J Med Genet 2014 Sep 12;57(9):536-42. Epub 2014 Jul 12.

Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Exeter, United Kingdom.

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http://dx.doi.org/10.1016/j.ejmg.2014.07.001DOI Listing
September 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Fragile X syndrome testing in the North West.

Arch Dis Child 2013 Mar 18;98(3):239. Epub 2013 Jan 18.

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http://dx.doi.org/10.1136/archdischild-2012-302934DOI Listing
March 2013

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.

Fam Cancer 2012 Dec;11(4):661-5

Department of Clinical Genetics and Human Genetics, University Medical Centre, Free University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10689-012-9553-3DOI Listing
December 2012

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Arch Dis Child 2012 Sep 14;97(9):812-7. Epub 2012 Jul 14.

Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary's Hospital, Oxford Rd, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2012-302125DOI Listing
September 2012

Distribution of syringomyelia along the entire spinal cord in clinically affected Cavalier King Charles Spaniels.

Vet J 2011 Dec 8;190(3):359-63. Epub 2011 Jan 8.

Department of Veterinary Clinical Sciences, The Royal Veterinary College, University of London, Hawkshead Lane, North Mymns, Hatfield, Hertfordshire AL9 7TA, UK.

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http://dx.doi.org/10.1016/j.tvjl.2010.12.002DOI Listing
December 2011

Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

Am J Med Genet A 2010 Sep;152A(9):2390-3

The School of Biomedicine, Faculty of Medical and Human Sciences, School of Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.33569DOI Listing
September 2010

Significance of surface epithelial cells in canine cerebrospinal fluid and relationship to central nervous system disease.

Vet Clin Pathol 2010 Sep 18;39(3):358-64. Epub 2010 Aug 18.

Division of Companion Animal Science, Institute of Comparative Medicine, Faculty of Veterinary Medicine, University of Glasgow Veterinary School, Glasgow, UK.

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http://doi.wiley.com/10.1111/j.1939-165X.2010.00248.x
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http://dx.doi.org/10.1111/j.1939-165X.2010.00248.xDOI Listing
September 2010

Inhibition of long-term potentiation by valproic acid through modulation of cyclic AMP.

Epilepsia 2010 Aug 1;51(8):1533-42. Epub 2009 Dec 1.

UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02412.xDOI Listing
August 2010

What is your diagnosis? Foreign body.

J Am Vet Med Assoc 2010 Aug;237(4):359-60

Department of Veterinary Clinical Sciences, The Royal Veterinary College, University of London, North Mymms, Hertfordshire, AL9 7TA, England.

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http://dx.doi.org/10.2460/javma.237.4.359DOI Listing
August 2010

Ischaemic and haemorrhagic stroke in the dog.

Vet J 2009 Jun 24;180(3):290-303. Epub 2008 Jun 24.

Division of Companion Animal Science, Institute of Comparative Medicine, Faculty of Veterinary Medicine, University of Glasgow Veterinary School, 464 Bearsden Road, Bearsden, Glasgow G61 1QH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S109002330800009
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http://dx.doi.org/10.1016/j.tvjl.2007.12.023DOI Listing
June 2009

The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs.

Vet J 2008 Jun 30;176(3):310-9. Epub 2007 Apr 30.

Department of Veterinary Clinical Sciences, Neurology, Royal Veterinary College, Hatfield, UK.

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http://dx.doi.org/10.1016/j.tvjl.2007.03.002DOI Listing
June 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Canine epilepsy: what can we learn from human seizure disorders?

Authors:
Kate Chandler

Vet J 2006 Sep 12;172(2):207-17. Epub 2005 Sep 12.

Royal Veterinary College, North Mymms, Hatfield, Hertfordshire, AL9 7TA, United Kingdom.

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http://dx.doi.org/10.1016/j.tvjl.2005.07.001DOI Listing
September 2006

Use of ketamine for the management of refractory status epilepticus in a dog.

J Vet Intern Med 2006 Jan-Feb;20(1):194-7

Queen Mother Hospital for Animals, Small Animal Medicine and Surgery Group, Department of Veterinary Clinical Sciences, Royal Veterinary College, London, UK.

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http://dx.doi.org/10.1892/0891-6640(2006)20[194:uokftm]2.0.co;2DOI Listing
April 2006

Plasticity of GABA(B) receptor-mediated heterosynaptic interactions at mossy fibers after status epilepticus.

J Neurosci 2003 Dec;23(36):11382-91

Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6740526PMC
December 2003