Veronica van Heyningen

Veronica van Heyningen

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Veronica van Heyningen

Veronica van Heyningen

Publications by authors named "Veronica van Heyningen"

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Genome sequencing-the dawn of a game-changing era.

Heredity (Edinb) 2019 Jul 12;123(1):58-66. Epub 2019 Jun 12.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1038/s41437-019-0226-yDOI Listing
July 2019

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

J Cell Biol 2017 04 28;216(4):999-1013. Epub 2017 Feb 28.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK

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http://dx.doi.org/10.1083/jcb.201607032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379941PMC
April 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Clinical utility gene card for: Aniridia.

Eur J Hum Genet 2016 11 6;24(11). Epub 2016 Jul 6.

Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1038/ejhg.2016.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110069PMC
November 2016

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Ann Clin Transl Neurol 2016 05 12;3(5):314-30. Epub 2016 Apr 12.

Department of Clinical and Experimental Epilepsy UCL Institute of Neurology National Hospital for Neurology and Neurosurgery London WC1N 3BG United Kingdom; Epilepsy Society Chalfont-St-Peter Bucks SL9 0RJ United Kingdom.

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http://dx.doi.org/10.1002/acn3.297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863745PMC
May 2016

Pleiotropic effects of Sox2 during the development of the zebrafish epithalamus.

PLoS One 2014 31;9(1):e87546. Epub 2014 Jan 31.

Biomedical Systems Analysis Section, Medical Developmental Genetics Section, Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087546PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909122PMC
October 2014

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis.

Mol Biol Cell 2014 Apr 19;25(8):1216-33. Epub 2014 Feb 19.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1HH, United Kingdom Biomedical Sciences Research Complex Mass Spectrometry and Proteomics Facility, University of St. Andrews, St. Andrews, Fife KY16 9ST, United Kingdom.

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http://dx.doi.org/10.1091/mbc.E13-08-0471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982988PMC
April 2014

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.

Dev Biol 2014 Mar 17;387(2):214-28. Epub 2014 Jan 17.

MRC Human Genetics Unit at the MRC IGMM at the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2014.01.007DOI Listing
March 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

Regulation from a distance: long-range control of gene expression in development and disease.

Philos Trans R Soc Lond B Biol Sci 2013 6;368(1620):20120372. Epub 2013 May 6.

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

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http://dx.doi.org/10.1098/rstb.2012.0372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682733PMC
December 2013

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas.

PLoS One 2013 11;8(1):e54173. Epub 2013 Jan 11.

Medical Research Council Human Genetics Unit at the Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0054173PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543312PMC
July 2013

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Mol Genet Genomic Med 2013 May 27;1(1):15-31. Epub 2013 Mar 27.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Western General Hospital Edinburgh, EH4 2XU, United Kingdom.

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http://dx.doi.org/10.1002/mgg3.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893155PMC
May 2013

Aniridia.

Eur J Hum Genet 2012 Oct 13;20(10):1011-7. Epub 2012 Jun 13.

Ophthalmology, Hinchingbrooke Hospital, Cambridgeshire, UK.

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http://dx.doi.org/10.1038/ejhg.2012.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449076PMC
October 2012

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.

PLoS One 2011 29;6(12):e28616. Epub 2011 Dec 29.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028616PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248410PMC
April 2012

Discovery and assessment of conserved Pax6 target genes and enhancers.

Genome Res 2011 Aug 26;21(8):1349-59. Epub 2011 May 26.

Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://genome.cshlp.org/lookup/doi/10.1101/gr.124115.111
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http://dx.doi.org/10.1101/gr.124115.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149501PMC
August 2011

Clinical utility gene card for: WAGR syndrome.

Eur J Hum Genet 2011 Apr 12;19(4). Epub 2011 Jan 12.

Department of Pediatrics, University of New Mexico, Albuquerque, NM, USA.

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http://dx.doi.org/10.1038/ejhg.2010.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060328PMC
April 2011

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

Folia Neuropathol 2009 ;47(4):372-82

Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02-957 Warsaw, Poland.

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March 2010

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Invest Ophthalmol Vis Sci 2009 Jun 14;50(6):2581-90. Epub 2009 Feb 14.

Moorfields Eye Hospital, London, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2827DOI Listing
June 2009

Long-range control of gene expression. Preface.

Adv Genet 2008 ;61:xiii-xv

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http://dx.doi.org/10.1016/S0065-2660(07)00014-4DOI Listing
November 2008

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis.

Development 2008 Sep 24;135(17):2939-48. Epub 2008 Jul 24.

Department of Biochemistry and Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1242/dev.021097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654719PMC
September 2008

Incapacitating the evolutionary capacitor: Hsp90 modulation of disease.

Curr Opin Genet Dev 2008 Jun 28;18(3):264-72. Epub 2008 Aug 28.

Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S0959437X0800083
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http://dx.doi.org/10.1016/j.gde.2008.07.004DOI Listing
June 2008

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Am J Med Genet A 2008 Mar;146A(5):558-69

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1002/ajmg.a.32209DOI Listing
March 2008

PAX6 mutations may be associated with high myopia.

Ophthalmic Genet 2007 Sep;28(3):179-82

Department of Ophthalmology, Flinders University, Adelaide, Australia.

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http://dx.doi.org/10.1080/13816810701356676DOI Listing
September 2007

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Eur J Hum Genet 2007 Aug 4;15(8):898-901. Epub 2007 Apr 4.

Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201826DOI Listing
August 2007

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

Arch Pediatr Adolesc Med 2007 May;161(5):463-9

Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK.

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http://dx.doi.org/10.1001/archpedi.161.5.463DOI Listing
May 2007

Hsp90 selectively modulates phenotype in vertebrate development.

PLoS Genet 2007 Mar 8;3(3):e43. Epub 2007 Feb 8.

Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.0030043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1839141PMC
March 2007

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

Am J Hum Genet 2007 Feb 29;80(2):306-15. Epub 2006 Dec 29.

Department of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2H7, Canada.

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http://dx.doi.org/10.1086/511280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785352PMC
February 2007

Molecular analysis of a human PAX6 homeobox mutant.

Eur J Hum Genet 2006 Jun;14(6):744-51

Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, Udine, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201579DOI Listing
June 2006

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Epilepsia 2006 Mar;47(3):534-42

Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00464.xDOI Listing
March 2006

Developmental eye disorders.

Curr Opin Genet Dev 2005 Jun;15(3):348-53

Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1016/j.gde.2005.04.013DOI Listing
June 2005

Long-range control of gene expression: emerging mechanisms and disruption in disease.

Am J Hum Genet 2005 Jan 17;76(1):8-32. Epub 2004 Nov 17.

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom.

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http://dx.doi.org/10.1086/426833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196435PMC
January 2005

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Invest Ophthalmol Vis Sci 2004 Nov;45(11):3871-6

Institute of Ophthalmology, University College London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.04-0641DOI Listing
November 2004

Mechanisms of non-Mendelian inheritance in genetic disease.

Hum Mol Genet 2004 Oct;13 Spec No 2:R225-33

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1093/hmg/ddh254DOI Listing
October 2004

Deficient auditory interhemispheric transfer in patients with PAX6 mutations.

Ann Neurol 2004 Oct;56(4):503-9

Neuro-otology Department, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.20227DOI Listing
October 2004

Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription.

Dev Biol 2004 Jan;265(2):462-77

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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January 2004

Quantitative MR image analysis in subjects with defects in the PAX6 gene.

Neuroimage 2003 Dec;20(4):2281-90

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WCIN 3BG, UK.

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December 2003

Turned off by RNA.

Nat Genet 2003 Jun;34(2):125-6

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http://www.nature.com/articles/ng0603-125
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http://dx.doi.org/10.1038/ng0603-125DOI Listing
June 2003

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Ann Neurol 2003 May;53(5):658-63

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London.

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http://dx.doi.org/10.1002/ana.10576DOI Listing
May 2003

Mutations in SOX2 cause anophthalmia.

Nat Genet 2003 Apr 3;33(4):461-3. Epub 2003 Mar 3.

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/ng1120DOI Listing
April 2003

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Am J Hum Genet 2002 Nov 17;71(5):1138-49. Epub 2002 Oct 17.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom.

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http://dx.doi.org/10.1086/344396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC385089PMC
November 2002

Advice to governments: scientific give and take.

Nat Rev Genet 2002 08;3(8):631-6

Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/nrg860DOI Listing
August 2002

PAX6 in sensory development.

Hum Mol Genet 2002 May;11(10):1161-7

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1093/hmg/11.10.1161DOI Listing
May 2002

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.

Mech Dev 2002 Mar;112(1-2):89-100

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

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March 2002

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance.

Mamm Genome 2002 Feb;13(2):102-7

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1007/s00335-001-3058-yDOI Listing
February 2002

Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors.

Development 2002 Jan;129(2):455-66

Department of Biomedical Sciences, University of Edinburgh Medical School, Hugh Robson Building, George Square, Edinburgh EH8 9XD, UK.

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January 2002