Veronica van Heyningen

Veronica van Heyningen's AcademicInfluence.com Rankings

Biology

#6143

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#8795

Historical Rank

Genetics

#661

World Rank

#745

Historical Rank

Molecular Biology

#979

World Rank

#1003

Historical Rank

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Biology

Why Is Veronica van Heyningen Influential?

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According to Wikipedia, Veronica van Heyningen is an English geneticist who specialises in the etiology of anophthalmia as an honorary professor at University College London . She previously served as head of medical genetics at the MRC Human Genetics Unit in Edinburgh and the president of The Genetics Society. In 2014 she became president of the Galton Institute. she chairs the diversity committee of the Royal Society, previously chaired by Uta Frith.

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Veronica van Heyningen's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mouse Small eye results from mutations in a paired-like homeobox-containing gene (1991) (1415)
Pax6 Controls Progenitor Cell Identity and Neuronal Fate in Response to Graded Shh Signaling (1997) (1061)
Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005) (893)
The candidate Wilms' tumour gene is involved in genitourinary development (1990) (874)
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region (1991) (850)
The human PAX6 gene is mutated in two patients with aniridia (1992) (572)
Mutations in SOX2 cause anophthalmia (2003) (525)
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly (1994) (503)
Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing (1995) (494)
Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities (1996) (460)
Position effect in human genetic disease. (1998) (373)
Graded sonic hedgehog signaling and the specification of cell fate in the ventral neural tube. (1997) (350)
The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis (2009) (345)
Advances in Genetics (1947) (318)
Heterozygous mutations of OTX2 cause severe ocular malformations. (2005) (297)
Role of Pax6 in development of the cerebellar system. (1999) (277)
PAX6 mutations reviewed (1998) (267)
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (2002) (262)
Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors. (2002) (261)
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology (2002) (248)
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans (2001) (232)
The β2-microglobulin gene is on chromosome 15 and not in the HL-A region (1975) (231)
SOX2 anophthalmia syndrome (2005) (224)
PAX6 in sensory development. (2002) (222)
Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript. (1992) (218)
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. (2006) (212)
A clue to the basic defect in cystic fibrosis from cloning the CF antigen gene (1987) (210)
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. (2001) (204)
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3 (2009) (196)
Expression pattern of two related cystic fibrosis-associated calcium-binding proteins in normal and abnormal tissues. (1988) (194)
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2 (2006) (190)
Pax6: more than meets the eye. (1995) (186)
PAX6 mutations in aniridia. (1993) (176)
Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence (2008) (175)
Transmeiotic differentiation of male germ cells in culture (1993) (173)
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. (1999) (171)
EYA4, a novel vertebrate gene related to Drosophila eyes absent. (1999) (166)
Polymicrogyria and absence of pineal gland due to PAX6 mutation (2003) (164)
Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (1992) (161)
Differential expression and serologically distinct subpopulations of human Ia antigens detected with monoclonal antibodies to Ia alpha and beta chains (1982) (160)
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. (2009) (159)
Hsp90 Selectively Modulates Phenotype in Vertebrate Development (2007) (157)
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. (2013) (147)
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13 (1975) (146)
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (1993) (145)
The evolution of WT1 sequence and expression pattern in the vertebrates. (1995) (140)
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. (2002) (139)
High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. (1992) (137)
Long-range downstream enhancers are essential for Pax6 expression (2006) (135)
One gene—four syndromes (1994) (128)
Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription. (2004) (127)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (123)
Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13. (1998) (121)
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (2000) (117)
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. (1985) (116)
Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization (2006) (115)
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. (1995) (111)
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia (2008) (108)
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa (2016) (105)
Wilms' tumour: reconciling genetics and biology. (1992) (105)
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. (1992) (104)
Developmental eye disorders. (2005) (104)
GDF6, a novel locus for a spectrum of ocular developmental anomalies. (2007) (102)
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. (2009) (99)
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. (2014) (96)
Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy (2006) (93)
Role for the Wilms tumor gene in genital development? (1990) (91)
New 3′ elements control Pax6 expression in the developing pretectum, neural retina and olfactory region (2002) (90)
A simple method for ranking the affinities of monoclonal antibodies. (1983) (89)
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center (2013) (87)
Mechanisms of non-Mendelian inheritance in genetic disease. (2004) (86)
Multiple roles for the Wilms' tumor suppressor, WT1. (1999) (85)
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction (2009) (85)
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (2014) (83)
The Human PAX6 Mutation Database (1998) (81)
Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour (1998) (79)
The Developmental Regulator Pax6 Is Essential for Maintenance of Islet Cell Function in the Adult Mouse Pancreas (2013) (78)
Human cytochrome P-450 PB-1: a multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10. (1988) (77)
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect (2016) (75)
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. (2007) (71)
Transcription factors in disease. (1996) (70)
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence (2014) (68)
Dads and disomy and disease (1991) (67)
Related calcium-binding proteins map to the same subregion of chromosome 1q and to an extended region of synteny on mouse chromosome 3. (1990) (66)
The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14. (1992) (66)
PAX6 Mutations May Be Associated with High Myopia (2007) (60)
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. (1997) (60)
The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis. (1994) (58)
DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region (2011) (58)
Equivalent expression of paternally and maternally inherited WT1 alleles in normal fetal tissue and Wilms' tumours. (1992) (56)
Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene (1985) (52)
Discovery and assessment of conserved Pax6 target genes and enhancers. (2011) (51)
Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis (2008) (51)
Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11. (1988) (51)
Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome (2016) (51)
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. (2008) (50)
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation (2001) (50)
The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse. (1997) (49)
Genetic Control of Mitochondrial Enzymes in Human–Mouse Somatic Cell Hybrids (1973) (49)
Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences (2013) (48)
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. (1996) (46)
Quantitative MR image analysis in subjects with defects in the PAX6 gene (2003) (44)
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance (2002) (44)
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6. (1999) (44)
Report of the fourth international workshop on human chromosome 11 mapping 1994. (1995) (43)
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? (1997) (41)
A simple method for ranking the affinities of monoclonal antibodies. (1986) (41)
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. (1997) (40)
Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants (1986) (39)
A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos. (2014) (38)
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia (2007) (38)
An ordered sequence of expression of human MHC class-II antigens during B-cell maturation? (1983) (37)
Deficient auditory interhemispheric transfer in patients with PAX6 mutations (2004) (37)
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene (2002) (37)
Incapacitating the evolutionary capacitor: Hsp90 modulation of disease. (2008) (37)
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion (2007) (36)
Monoclonal antibodies to human alpha-foetoprotein: analysis of the behaviour of three different antibodies. (1982) (36)
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (2004) (35)
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse (2006) (34)
Enhanced expression of human Ia antigens by chronic lymphocytic leukemia cells following treatment with 12‐O‐tetradecanoylphorbol‐13‐acetate (1983) (33)
A new set of primers for mutation analysis of the human PAX6 gene (1998) (32)
Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers (1988) (31)
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish (2015) (31)
Colocalization of the human CD59 gene to 11p13 with the MIC11 cell surface antigen. (1993) (31)
Cognitive functioning in humans with mutations of the PAX6 gene (2004) (30)
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction (2019) (30)
Monoclonal antibodies for use in an immunoradiometric assay for α-foetoprotein (1982) (29)
PAX6, brain structure and function in human adults: advanced MRI in aniridia (2016) (29)
Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998 (1999) (29)
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome (2015) (29)
KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability (2017) (28)
PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS WITH A MONOCLONAL ANTIBODY SPECIFIC FOR ACETYLCHOLINESTERASE (1985) (27)
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. (1997) (27)
Mouse Small eye results from mutation in a paired-like homebox-containing gene (1992) (26)
Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map. (1994) (26)
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. (1993) (26)
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. (1989) (25)
The distal region of 11p13 and associated genetic diseases. (1991) (24)
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. (2009) (23)
Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids (1988) (23)
Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis (2014) (23)
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus (2017) (23)
Clinical utility gene card for: WAGR syndrome (2011) (22)
Regulation from a distance: long-range control of gene expression in development and disease (2013) (22)
Wilms’ tumour - a case of disrupted development (1994) (22)
Serum concentrations of a granulocyte-derived calcium-binding protein in cystic fibrosis patients and heterozygotes. (1987) (21)
Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18. (2005) (21)
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma (2017) (21)
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation (2007) (20)
PAX 6 in sensory development (2002) (20)
Development and utility of a monoclonal-antibody-based, highly sensitive immunoradiometric assay of thyrotropin. (1987) (20)
Regional localization of the sperm‐specific lactate dehydrogenase, LDHC, gene on human chromosome 11 (1989) (20)
Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase (1984) (19)
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen (2019) (19)
Mouse mutations and human disorders are paired. (1992) (19)
Clinical utility gene card for: Aniridia (2016) (18)
Biological properties of a tumour cell line (NB1-G) derived from human neuroblastoma. (1987) (18)
Hemolytic uremic syndrome associated with Denys-Drash syndrome (2000) (17)
Report of the second chromosome 11 workshop. (1992) (17)
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy (2019) (16)
Possible role for two calcium-binding proteins of the S-100 family, co-expressed in granulocytes and certain epithelia. (1990) (16)
Monoclonal antibodies to cystic fibrosis antigen. (1986) (16)
Subunit structure of calgranulins A and B obtained from sputum, plasma, granulocytes and cultured epithelial cells. (1992) (15)
Subsets of Human D Locus Products Identified by a Series of Monoclonal Antibodies (1982) (15)
Gene games of the future (2000) (15)
UKCCCR guidelines for the use of cell lines in cancer research (1999) (15)
A monoclonal antibody-based immunoassay for human lactoferrin. (1985) (15)
A simple method for ranking the affinities of monoclonal antibodies. (1986) (15)
Probable assignment of the locus determining human red cell acid phosphatase ACP1 to chromosome 2 using somatic cell hybrids (1974) (15)
A new PAX6 mutation in familial aniridia. (1995) (14)
Human-mouse hybrids carrying fragments of single human chromosomes selected by tumor growth. (1989) (14)
Does the Wilms’ tumour suppressor gene, WT1, play roles in both splicing and transcription? (1995) (13)
Micronucleus frequencies in lymphoblastoid cell lines measured with the cytokinesis-block technique and flow cytometry. (1995) (13)
Cultured epithelial cells from patients with cystic fibrosis have an increased expression of the 14 kDa Ca2(+)-binding protein CFA. (1991) (12)
Developmental eye disease--a genome era paradigm. (1998) (12)
Production of high affinity monoclonal antibodies to deoxycorticosterone. (1984) (12)
In utero nephropathy, Denys-Drash syndrome and Potter phenotype (1998) (12)
Influence of monoclonal anti-Ia like antibodies on activation of human lymphocytes. (1982) (12)
Sugar and spice and all things splice? (1997) (12)
Aniridia (2012) (11)
The generation of ordered sets of cosmid DNA clones from human chromosome region 11p. (1992) (11)
Human MHC class II molecules as differentiation markers (2004) (11)
Monoclonal antibodies against HLA‐DR antigens acting on stimulator cells prevent OKT8+ T lymphocytes from acquiring sensitivity to interleukin 2 and expressing suppressor function (1983) (11)
Genetics. One gene--four syndromes. (1994) (11)
MITOCHONDRIAL ENZYMES IN MAN-MOUSE HYBRID CELLS (1974) (9)
Molecular analysis of a human PAX6 homeobox mutant (2006) (9)
Biochemical variation of human Ia like antigens detected with monoclonal antibodies. (1983) (9)
Enzyme-linked immunospecific assays for human alphafetoprotein using monoclonal antibodies. (1982) (9)
Long-range structure of H-ras 1-selected transgenomes (1989) (9)
PAX genes in human developmental anomalies (1994) (9)
Ranking the Affinities of Monoclonal Antibodies (1987) (9)
The facts on cystic fibrosis testing (1986) (8)
Pleiotropic Effects of Sox2 during the Development of the Zebrafish Epithalamus (2014) (8)
Mapping a chromosome to find a gene (1986) (8)
Assignment of the human RT6 gene to 11q13 by PCR screening of somatic cell hybrids and in situ hybridization. (1993) (8)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (8)
Reassessment of breakpoints in chromosome 11p15. (1993) (7)
Approaches to the production of monoclonal antibodies specific for concanavalin A binding and non-binding forms of alphafetoprotein. (1984) (7)
Human RAG2, like RAGI, is on chromosome II band p13 and therefore not linked to ataxia telangiectasia complementation groups (1992) (7)
Wilms tumour: a developmental anomaly. (1989) (7)
Use of catalase polymorphisms in the study of sporadic aniridia (1986) (7)
Clinical Value of Imaging Using Antibody to Alpha Fetoprotein in Germ Cell Tumours (1989) (7)
Short cut to disease genes. (2001) (6)
Further intricacy of HLA-DR antigens. (1982) (6)
Molecular genetic mapping of the multiple endocrine neoplasia type 1 locus. (1992) (6)
Cystic fibrosis: from linked markers to the gene (1986) (6)
Developmental eye disease — a genome era paradigm (1998) (5)
Embryonic kidney rudiments grown in adult mice fail to mimic the Wilms' phenotype, but show strain-specific morphogenesis. (1993) (5)
Analysis of the Mitochondrial Enzymes Citrate Synthase (EC 4.1.3.7) and Malate Dehydrogenase (EC 1.1.1.37) in Human-Mouse Somatic Cell Hybrids (1974) (5)
Report of the committee on the genetic constitution of chromosome 11. (1990) (5)
The Calgranulins, Members of the S-100 Protein Family: Structural Features, Expression, and Possible Function (1991) (5)
Assignment of a gene necessary for the expression of mitochondrial glutamic-oxaloacetic transaminase in human-mouse hybrid cells. (1978) (5)
Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1.) (1980) (5)
Model Organisms Illuminate Human Genetics and Disease (1997) (4)
Model organisms illuminate human genetics and disease. (1997) (4)
Cystic fibrosis: In search of the gene (1984) (4)
Immortalized cell lines. Their creation and use in gene mapping. (1994) (4)
Towards an understanding of Wilms' tumour. (1994) (4)
SV40-mediated tumor selection and chromosome transfer to enrich for cystic fibrosis region (1990) (4)
Physical mapping of 38 highly informative genetic markers to 10 intervals of chromosome 11q: integration of the physical and genetic maps (1994) (4)
Turned off by RNA (2003) (3)
Identification of MIC 11 antigen as an epitope of the CD59 molecule. (1995) (3)
Long-range control of gene expression. Preface. (2008) (3)
Genome Analysis-Strategies for Physical Mapping. Vol. 4. Edited by Kay E. Davies and Shirley M. Tilghman. Cold Spring Harbor Laboratory Press. 1992. 165 pages. Price $49. ISBN 0 87969 412 2. (1993) (3)
Changing tack on the map (1996) (3)
Serological distinction between DR antigens and lymphocyte activating determinants. (2008) (3)
Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics (European Journal of Human Genetics) (2008) vol. 16 (405-411) 10.1038/sj.ejhg.5201929) (2008) (3)
Involvement of GDF6 in Oculo-Skeletal Development (2007) (2)
Monoclonal Anti-B Cell Antibodies: their Effects on Human Mixed Lymphocyte Reactions (1982) (2)
Explorer Hsp 90 selectively modulates phenotype in vertebrate development (2017) (2)
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities (2017) (2)
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (2)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (2)
Placement and Refined Mapping of Established and New Markers on Human Chromosome 11q Using a Small Panel of Somatic Cell Hybrids (1995) (2)
Advice to governments: scientific give and take (2002) (2)
Genome sequencing—the dawn of a game-changing era (2019) (2)
Linkage relationships of the HL-A system and beta 2 microglobulin. (1975) (2)
Chemistry: An end to the protection racket (2001) (2)
One gene—four syndromes (1994) (2)
Monoclonal antibodies for use in an immunoradiometric assay for alpha-foetoprotein. (1982) (2)
A screening assay for monoclonal antibodies based on the availability of a polyclonal antiserum. (1984) (2)
Genome Analysis: A Practical Approach. Edited by K. E. Davies. Oxford: IRL Press Ltd. 1988. 192 pages. $27·00/US$54·00. ISBN 1 85221 109 1. (1989) (2)
Assignment of the genes for mitochondrial malate dehydrogenase and for SV40 T-antigen to human chromosome 7. (1976) (1)
Immortalized Cell Lines (1994) (1)
Cystic Fibrosis: Horizons. Proceedings of the 9th International Congress, Brighton, England, June 9th–15th 1984 . Edited by D. Lawson. Chichester: John Wiley. 1984. 446 pages. £15.00. ISBN 0 471 90439 2. (1984) (1)
Sugar and spice and all things splice? (1997) (1)
Phenotype Associated With Two Novel OTX2 Mutations (2010) (1)
ACETYLCHOLINESTERASE IMMUNOASSAYS IN DETECTION ON NEURAL-TUBE DEFECTS (1985) (1)
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia (2022) (1)
CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13 (2018) (1)
Contents Vol. 55, 1990 (1990) (1)
Mitochondrial and other enzymes in somatic cell hybrids (1973) (1)
Changing tack on the map. (1996) (1)
Explorer PAX 6 , brain structure and function in human adults : advanced MRI in aniridia (2016) (1)
Dinucleotide repeat polymorphism at the D11S995 locus. (1993) (1)
Correlation Between Genotype and Retinal Alterations in Aniridia as Measured With the Full–field and Multifocal Electroretinogram (2005) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Association between pregnancy-associated alpha2-glycoprotein (alpha2-PAG) and mixed leucocyte reaction determinants on the leucocyte surface. (1979) (0)
Genome Analysis, Volume 1: Genetic and Physical Mapping. Edited by Kay E. Da Vies and Shirley M. Tilghman. Cold Spring Harbor Laboratory 1990. 189 pages. Cloth $40 ISBN 0 87969 358 4. (1991) (0)
Congenital Abnormalities and SOX2 Mutations (2016) (0)
The genetical society Abstracts of papers presented at the two hundred and fifth meeting of the Society held on Friday, 14th and Saturday, 15th November 1986 at University College, London (1987) (0)
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus (2017) (0)
Faculty Opinions recommendation of Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. (2007) (0)
Look Back to the Future. The Cells of the Body: A History of Somatic Cell Genetics (1996) (0)
Genetic Heterogeneity In Aniridia (2009) (0)
Cystic fibrosis: In search of the gene (1984) (0)
SOX2 anophthalmia syndrome. Commentary (2005) (0)
A Journey Through Genetics to Biology. (2022) (0)
Monoclonals and DNA Probes in Diagnostic and Preventive Medicine (1988) (0)
Linkage relationships of the HL-A system and beta2 microglobulin. (1975) (0)
Pax6 is essential for maintenance of islet cell function in adult mice (2012) (0)
HGM2008 plenary abstracts: genomics and the future of medicine (2009) (0)
Towardsan understanding ofWilms'tumour (1994) (0)
A new PAX6mutation infamilial aniridia (1995) (0)
Faculty Opinions recommendation of Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. (2006) (0)
Correction for “ Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX , SOX 4 , and IRX (2011) (0)
Genetics in Clinical Oncology . Edited by R. S. K Chaganti and J. L. German. Oxford University Press. 1985 280 pages £35.00. ISBN 0 19 503609 3 (1986) (0)
Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (2007) (0)
Subject Index Vol. 86, 1999 (1999) (0)
TOWARD ANALYSIS OF THE HLA-DR SYSTEM WITH MONOCLONAL ANTIBODIES (1982) (0)
Explorer Discovery and assessment of conserved Pax 6 target genes and enhancers (2017) (0)
SELECTION OF MONOCLONAL ANTIBODIES FOR DESIGNATED USES (1982) (0)
Edinburgh Research Explorer Complete sequencing of the Fugu WAGR region from WT1 to PAX6 (2018) (0)
Non‐Coding Sequence Variation Effects on Tissue‐Specific Gene Expression (2013) (0)
PAX6, Aniridia, and Related Phenotypes* (2016) (0)
References to the committee reports (1975) (0)
Identification ofMIC 11antigen as an epitope oftheCD59 molecule (1995) (0)
FISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions (2001) (0)
Subject Index Vol. 22, 1978 (1978) (0)
Explorer The developmental regulator Pax 6 is essential for maintenance of islet cell function in the adult mouse pancreas (2017) (0)
Molecular andPhysical Arrangements ofHumanDNA inHRASI- Selected, Chromosome-Mediated Transfectants (1986) (0)
Genetics of disease. (2005) (0)
Subject Index, Vol. 69, 1995 (2004) (0)
Professor Sue Povey (1942-2019). Former Editor-in-Chief of the Annals of Human Genetics, died January 11th 2019. (2019) (0)
Phenotypic Variability and Incomplete Penetrance Are Features of GDF6 Mutations (2008) (0)
Distribution of nonmuscle actin during Xenopus laevis development. (1992) (0)
Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease (2020) (0)
A FISHapproach todefining theextentand possible clinical significance ofdeletions atthe WAGR locus (1997) (0)
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability (2021) (0)
Assignment of the genes for mitochondrial malate dehydrogenase and for SV40 T-antigen to human chromosome 7. (1976) (0)
Results Characterization and Validation of the Knockdown Effect of the sox 2 Morpholino Strategy (2014) (0)
Molecular analysis of the aniridia--Wilms' tumor syndrome. (1988) (0)
Faculty Opinions recommendation of Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (2006) (0)
Mutational Analysis In A Large Number Of Patients With Uni- Or Bilateral Anophthalmia (2011) (0)
Generation of a 'Pax6 GFP reporter' transgenic mouse (2002) (0)
Introduction: Genetic approaches to human developmental syndromes (1994) (0)
Explorer A rare de novo nonsense mutation in OTX 2 causes early onset retinal dystrophy and pituitary dysfunction (2018) (0)
Correction: Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish (2015) (0)
Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome (2016) (0)
Gene games of the future (2000) (0)
Analysis of patients with various anterior segment disorders for mutations in PITX2, PITX3, FOXE3 and VSX1 genes (2002) (0)

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