Jane A Hurst

Jane A Hurst

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Jane A Hurst

Jane A Hurst

Publications by authors named "Jane A Hurst"

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

STAR syndrome: a further case and the first report of maternal mosaicism.

Clin Dysmorphol 2017 Jul;26(3):157-160

aOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Headington bDepartment of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000176DOI Listing
July 2017

Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.

Clin Dysmorphol 2017 Jan;26(1):13-17

aNorth East Thames Regional Genetics Service bDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000151DOI Listing
January 2017

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 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

A new acro-osteolysis syndrome caused by duplications including PTHLH.

J Hum Genet 2014 Sep 10;59(9):484-7. Epub 2014 Jul 10.

Department of Genetics, The Hospital for Sick Children, London, UK.

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http://dx.doi.org/10.1038/jhg.2014.58DOI Listing
September 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

The postnatal features of bent bone dysplasia-FGFR2 type.

Clin Dysmorphol 2014 Jan;23(1):8-11

aNorth East Thames Regional Genetics Service, Great Ormond Street Hospital bClinical and Molecular Genetics Unit, Institute of Child Health cDepartment of Radiology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000022DOI Listing
January 2014

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

BMC Med Genet 2012 Nov 9;13:104. Epub 2012 Nov 9.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1186/1471-2350-13-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3532175PMC
November 2012

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

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

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

Puzzling out disclosure programs: where do you fit into the picture?

Authors:
Jane A Hurst

Nursing 2011 Feb;41(2):50-4

RN Services Legal Nursing Consulting, Piqua, Ohio, USA.

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http://dx.doi.org/10.1097/01.NURSE.0000391401.98074.5dDOI Listing
February 2011

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

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Am J Med Genet A 2010 Jun;152A(6):1383-9

Department of Clinical Genetics, The Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33435DOI Listing
June 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

'I don't see any point in telling them': attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic.

Ethn Health 2009 Apr;14(2):205-24

Department of Public Health and Primary Care, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1080/13557850802071140DOI Listing
April 2009

"What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

J Genet Couns 2008 Aug 8;17(4):373-83. Epub 2008 Jul 8.

Ethox Centre, Department of Public Health and Primary Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, Oxford OX3 7LG, England.

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http://dx.doi.org/10.1007/s10897-008-9156-1DOI Listing
August 2008

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2007 Aug;143A(16):1941-9

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

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http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2006 Dec;140(23):2631-9

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

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http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006

Skeletal dysplasias.

Semin Fetal Neonatal Med 2005 Jun;10(3):233-41

Oxford Radcliffe Hospitals, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.siny.2004.12.001DOI Listing
June 2005

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nat Genet 2004 Sep 8;36(9):955-7. Epub 2004 Aug 8.

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng1407DOI Listing
September 2004