Jenny Morton

Jenny Morton

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Jenny Morton

Jenny Morton

Publications by authors named "Jenny Morton"

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A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Hum Mutat 2018 06 30;39(6):822-826. Epub 2018 Mar 30.

National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.

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http://dx.doi.org/10.1002/humu.23420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001798PMC
June 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Am J Med Genet A 2016 10 13;170(10):2706-10. Epub 2016 Jul 13.

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.37804DOI Listing
October 2016

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

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

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.

Eur J Hum Genet 2011 Jun 9;19(6):634-9. Epub 2011 Mar 9.

Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1038/ejhg.2010.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110039PMC
June 2011

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Eur J Hum Genet 2010 Feb 9;18(2):157-62. Epub 2009 Sep 9.

Department of Genetics and Molecular Pathology, Neurogenetics Laboratory, SA Pathology, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987188PMC
February 2010

Understanding cleft lip and palate. 2: The first five years.

J Fam Health Care 2009 ;19(4):122-5

Cleft Service, West Midlands Regional Cleft Centre, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham.

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January 2010

Understanding cleft lip and palate. 1: an overview.

J Fam Health Care 2009 ;19(3):101-3

West Midlands Regional Cleft Centre, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham.

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October 2009

Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritance.

Childs Nerv Syst 2006 May 1;22(5):539-41. Epub 2005 Nov 1.

Department of Neurosurgery, Diana Princess of Wales Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK.

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http://dx.doi.org/10.1007/s00381-005-0007-1DOI Listing
May 2006

Ecstasy: pharmacology and neurotoxicity.

Authors:
Jenny Morton

Curr Opin Pharmacol 2005 Feb;5(1):79-86

Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, UK.

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http://dx.doi.org/10.1016/j.coph.2004.08.007DOI Listing
February 2005

An unusual family with multiple movement disorders.

J Neurol 2003 Jul;250(7):793-6

Sobell Department of Motor Neuroscience & Movement Disorders, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00415-003-1078-0DOI Listing
July 2003