Veronica van Heyningen

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David R FitzPatrickProfessor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of EdinburghVerified email at nhs.net
W BickmoreMRC Human Genetics Unit, University of EdinburghVerified email at igmm.ed.ac.uk
Anthony MooreUCL Institute of OphthalmologyVerified email at ucsf.edu
Andreas SchedlUniversité Cote d'AzurVerified email at unice.fr
Marcel MannensHoogleraar genoomdiagnostiek in het bijzonder epigenetica van ziektenVerified email at amsterdamumc.nl
W F BodmerEmertitus Professor Oncology Oxford UniversityVerified email at hertford.ox.ac.uk
Kathryn Pritchard-JonesProfessor of Paediatric Oncology, Institute of Child Health, University College LondonVerified email at ucl.ac.uk
Brigid HoganDuke Medical SchoolVerified email at duke.edu
James BriscoeThe Francis Crick InstituteVerified email at crick.ac.uk
Johan EricsonProfessorVerified email at ki.se
Black G, Black GC, Black GCMManchester UniversityVerified email at manchester.ac.uk
Birgit LorenzProfessor für Augenheilkunde und Ophthalmogenetik, Justus-Liebig-Universität Gießen, DeutschlandVerified email at uniklinikum-giessen.de
Joe RaingerUKRI Future Leaders Fellow, Roslin Institute, Edinburgh UniversityVerified email at roslin.ed.ac.uk
Giuseppe DamanteUniversità di UdineVerified email at uniud.it
M.P. ClarkeNewcastleVerified email at ncl.ac.uk
Dian DonnaiProfessor of medical genetics University of ManchesterVerified email at cmft.nhs.uk
John O. MasonProfessor of Molecular Neural Development, University of EdinburghVerified email at ed.ac.uk
Ian SimpsonReader in Biological Informatics, School of Informatics, University of EdinburghVerified email at ed.ac.uk
Paula Monaghan-NicholsUniversity of Pittsburgh school of medicineVerified email at pitt.edu
Robyn JamiesonSydney UniversityVerified email at cmri.org.au

Veronica van Heyningen

Honorary Professor University of Edinburgh; Honorary Professor University College London

Verified email at ed.ac.uk - Homepage

Human Genetics Developmental biology Cis-regulatory control phenotype variability PAX6


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Mouse small eye results from mutations in a paired-like homeobox-containing gene VH RE Hill, J Favor, BL Hogan, CC Ton, GF Saunders, IM Hanson, J Prosser, T ... Nature 354, 4, 1991	1537*	1991
Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling J Ericson, P Rashbass, A Schedl, S Brenner-Morton, A Kawakami, ... Cell 90 (1), 169-180, 1997	1176	1997
Long-range control of gene expression: emerging mechanisms and disruption in disease DA Kleinjan, V Van Heyningen The American Journal of Human Genetics 76 (1), 8-32, 2005	1042	2005
Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region CCT Ton, H Hirvonen, H Miwa, MM Weil, P Monaghan, T Jordan, ... Cell 67 (6), 1059-1074, 1991	1009	1991
The candidate Wilms' tumour gene is involved in genitourinary development K Pritchard-Jones, S Fleming, D Davidson, W Bickmore, D Porteous, ... Nature 346 (6280), 194-197, 1990	989	1990
The human PAX6 gene is mutated in two patients with aniridia T Jordan, I Hanson, D Zaletayev, S Hodgson, J Prosser, A Seawright, ... Nature genetics 1 (5), 328-332, 1992	617	1992
Mutations in SOX2 cause anophthalmia J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ... Nature genetics 33 (4), 462-463, 2003	607	2003
Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing SH Larsson, JP Charlieu, K Miyagawa, D Engelkamp, M Rassoulzadegan, ... Cell 81 (3), 391-401, 1995	586	1995
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly IM Hanson, JM Fletcher, T Jordan, A Brown, D Taylor, RJ Adams, ... Nature genetics 6 (2), 168-173, 1994	563	1994
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities A Schedl, A Ross, M Lee, D Engelkamp, P Rashbass, V van Heyningen, ... Cell 86 (1), 71-82, 1996	498	1996
Position effect in human genetic disease DJ Kleinjan, V Van Heyningen Human molecular genetics 7 (10), 1611-1618, 1998	451	1998
Graded sonic hedgehog signaling and the specification of cell fate in the ventral neural tube J Ericson, J Briscoe, P Rashbass, V Van Heyningen, TM Jessell Cold Spring Harbor symposia on quantitative biology 62, 451-466, 1997	419	1997
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis SN Sansom, DS Griffiths, A Faedo, DJ Kleinjan, Y Ruan, J Smith, ... PLoS genetics 5 (6), e1000511, 2009	417	2009
The β₂-microglobulin gene is on chromosome 15 and not in the HL-A region PN Goodfellow, EA Jones, V Van Heyningen, E Solomon, M Bobrow, ... Nature 254 (5497), 267-269, 1975	357	1975
Role of Pax6 in development of the cerebellar system D Engelkamp, P Rashbass, A Seawright, V Heyningen Development 126 (16), 3585-3596, 1999	329	1999
Heterozygous mutations of OTX2 cause severe ocular malformations NK Ragge, AG Brown, CM Poloschek, B Lorenz, RA Henderson, ... The American Journal of Human Genetics 76 (6), 1008-1022, 2005	324	2005
PAX6 mutations reviewed J Prosser, V van Heyningen Human mutation 11 (2), 93-108, 1998	313	1998
Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors G Estivill-Torrus, H Pearson, V van Heyningen, DJ Price, P Rashbass Oxford University Press for The Company of Biologists Limited 129 (2), 455-466, 2002	306	2002
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology D Morrison, D FitzPatrick, I Hanson, K Williamson, V Van Heyningen, ... Journal of medical genetics 39 (1), 16-22, 2002	302	2002
Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ... Human molecular genetics 11 (1), 33-42, 2002	297	2002

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