V. Buckle

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A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter

Vip Viprakasit, Jan-Fang Cheng, Edward M. Rubin, 2006, Science.

G. Germino, V. Buckle, R. A. Wells, 1990, Genomics.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Association between active genes occurs at nuclear speckles and is modulated by chromatin environment

F. Iborra, J. Hughes, D. Higgs, 2008, The Journal of cell biology.

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

J. Telenius, J. Hughes, D. Higgs, 2017, Nature Communications.

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

Åsa Hedman, John Broxholme, Jiannis Ragoussis, 2005, Nucleic acids research.

Cohesin Disrupts Polycomb-Dependent Chromosome Interactions in Embryonic Stem Cells

Juan M. Vaquerizas, K. Nasmyth, J. Vaquerizas, 2020, Cell reports.

Cohesin disrupts polycomb-dependent chromosome interactions

Juan M. Vaquerizas, Kim Nasmyth, Veronica J. Buckle, 2019, bioRxiv.

Chromatin arranges in chains of mesoscale domains with nanoscale functional topography independent of cohesin

H. Hess, C. Xu, James D. P. Rhodes, 2020, Science Advances.

Chromatin arranges in chains of mesoscale domains with nanoscale functional topography independent of cohesin

H. Hess, C. Xu, James D. P. Rhodes, 2019, Science Advances.

Single-cell chromatin interactions reveal regulatory hubs in dynamic compartmentalized domains

J. Dekker, J. Telenius, R. Schwessinger, 2018, bioRxiv.

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

Simona Bianco, Mario Nicodemi, Damien J Downes, 2018, Nature Genetics.

Dissecting the centromere of the human Y chromosome with cloned telomeric DNA.

W. Brown, V. Buckle, K. Brown, 1994, Human molecular genetics.

An integrated platform to systematically identify causal variants and genes for polygenic human traits

Calliope A. Dendrou, J. Todd, G. Lunter, 2019, bioRxiv.

A Dynamic Folded Hairpin Conformation Is Associated with α-Globin Activation in Erythroid Cells.

J. Telenius, J. Hughes, M. Nicodemi, 2020, Cell reports.

Expression of alpha- and beta-globin genes occurs within different nuclear domains in haemopoietic cells.

A. Fisher, D. Higgs, V. Buckle, 2001, Nature cell biology.

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.

A. Monaco, J. Ramser, R. Reinhardt, 2000, Genomics.

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

J. Peden, L. Kearney, D. Higgs, 2001, Human molecular genetics.

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

J. Lamb, A. Wilkie, P. Harris, 1990, American journal of human genetics.

DNA rearrangements proximal to the EVI1 locus associated with the 3q21q26 syndrome.

J. Ihle, D. Oscier, V. Buckle, 1994, Blood.

Dynamics of the 4D genome during in vivo lineage specification and differentiation

Daniel Hidalgo, M. Socolovsky, J. Telenius, 2020, Nature Communications.

Targeted breakage of a human chromosome mediated by cloned human telomeric DNA

W. Brown, V. Buckle, M. A. Barnett, 1992, Nature Genetics.

Targeted high-resolution chromosome conformation capture at genome-wide scale

J. Telenius, R. Schwessinger, Matthew E. Gosden, 2020, bioRxiv.

Wide confocal cytometry: a new approach to study proteomic and structural changes in the cell nucleus during the cell cycle

F. Iborra, V. Buckle, 2007, Histochemistry and Cell Biology.

A new translocation, t(1;3) (p36;q21), in myelodysplastic disorders.

V. Buckle, J. Pearson, D. Moir, 1984, Blood.

Stabilization of chromatin topology safeguards genome integrity

G. Karemore, J. Lukas, C. Lukas, 2019, Nature.

Localisation of human alpha globin to 16p13.3----pter.

A. Wilkie, D. Weatherall, D. Higgs, 1988, Journal of medical genetics.

Localisation of human a globin to 16 p 13 . 3-- pter

D. Weatherall, D. Higgs, V. Buckle, 2022 .

Chromosomal localization of human genes for arylamine N-acetyltransferase.

A. Risch, N. Spurr, S. Jeremiah, 1994, The Biochemical journal.

Clinical Features andMolecular Analysis ofthea Thalsemia/Mental Retardation Syndromes. 1.CasesDueto Deletions Involving ChromosomeBand16pl3.3

J. Lamb, J. Tolmie, D. Weatherall, 1990 .

DETECTION OF BREAKPOINTS IN SUBMICROSCOPIC CHROMOSOMAL TRANSLOCATION, ILLUSTRATING AN IMPORTANT MECHANISM FOR GENETIC DISEASE

J. Lamb, D. Weatherall, D. Higgs, 1989, The Lancet.

Global gene expression analysis of human erythroid progenitors.

A. Nandi, S. McGowan, D. Higgs, 2011, Blood.

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.

L. Kearney, D. Higgs, S. Horsley, 1996, Human molecular genetics.

Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome.

H. Willard, P. Rigby, I. Craig, 1985, Journal of molecular biology.

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

A. Ballabio, M. Rocchi, I. Craig, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease

P. Seeburg, P. Schofield, J. Derry, 1989, Neuron.

Radiation-induced genomic instability: delayed cytogenetic aberrations and apoptosis in primary human bone marrow cells.

D. Goodhead, M. Kadhim, E. Wright, 1995, International journal of radiation biology.

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)

J. Clayton-Smith, L. Kearney, A. Wilkie, 1995 .

Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease.

X. Breakefield, I. Craig, V. Buckle, 1989, Genomics.

Clonality of cell populations in refractory anaemia using combined approach of gene loss and X‐linked restriction fragment length polymorphism‐methylation analyses

D. Oscier, V. Buckle, J. Boultwood, 1991, British journal of haematology.

Detection of nascent RNA transcripts by fluorescence in situ hybridization.

V. Buckle, Jill M. Brown, 2010, Methods in molecular biology.

Comparison of cytogenetic and restriction fragment length polymorphism analyses for the detection of loss of chromosome material in clonal hemopoietic disorders

D. Oscier, V. Buckle, J. Wainscoat, 1993, American journal of hematology.

Allelic Loss of IRFl in Myelodysplasia and Acute Myeloid Leukemia : Retention of IRFl on the 5 q-Chromosome in Some Patients With the 5 q-Syndrome

D. Oscier, Susan, V. Buckle, 2003 .

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

J. Peden, L. Kearney, D. Higgs, 2001, European Journal of Human Genetics.

Clinical Features and Molecular Analysis of the a Thalassemia / Mental Retardation Syndromes . II . Cases without Detectable Abnormality of the a Globin Complex A .

D. Weatherall, D. Higgs, V. Buckle, 2006 .

Homologous expressed genes in the human sex chromosome pairing region

I. Craig, V. Buckle, C. Mondello, 1985, Nature.

Chromosome maps of man and mouse. IV

M. Lyon, J. Edwards, V. Buckle, 1989, Annals of human genetics.

Localisation of Y chromosome sequences in normal and 'XX' males.

P. Goodfellow, I. Craig, V. Buckle, 1987, Journal of medical genetics.

Erythroid differentiation in CGL cells from a patient with blast crisis.

D. Weatherall, V. Buckle, W. Wood, 1984, Leukemia research.

Muscular dystrophy in girls with X;autosome translocations.

I. Craig, V. Buckle, Y. Boyd, 1986, Journal of medical genetics.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

A. Pagnamenta, G. Mirza, J. Parr, 2014, Journal of Medical Genetics.

Intragenic enhancers act as alternative promoters.

Monika S. Kowalczyk, Thomas A Milne, Douglas R Higgs, 2012, Molecular cell.

RASER-FISH: non-denaturing fluorescence in situ hybridization for preservation of three-dimensional interphase chromatin structure

L. Schermelleh, V. Buckle, Jill M. Brown, 2022, Nature Protocols.

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models

Davide Marenduzzo, Jim R. Hughes, Dominic Waithe, 2016, Genome Biology.

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.

V. Buckle, R. Wade-Martins, Jill M. Brown, 2015, Human molecular genetics.

Coregulated human globin genes are frequently in spatial proximity when active

Veronica J. Buckle, Ann Atzberger, Francisco J. Iborra, 2006, The Journal of cell biology.

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

W. Brown, A. Wilkie, D. Higgs, 1991, Cell.

Structure and polymorphism of human telomere-associated DNA

W. Brown, A. Villasanté, N. Spurr, 1990, Cell.

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

J. Sharpe, J. Sloane-Stanley, L. Strmečki, 2000, Human molecular genetics.

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

J. Clayton-Smith, L. Kearney, J. Burn, 1995, American journal of medical genetics.

Identification of a CA repeat at the TCRA locus using yeast artificial chromosomes: a general method for generating highly polymorphic markers at chosen loci.

C. Julier, V. Buckle, F. Cornélis, 1992, Genomics.

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression

I. Tomlinson, P. Ratcliffe, V. Buckle, 2012, Nature Genetics.

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

J. Flint, R. Winter, A. Holland, 1995, Nature Genetics.

Heritable gene silencing in lymphocytes delays chromatid resolution without affecting the timing of DNA replication

A. Fisher, R. Festenstein, N. Dillon, 2003, Nature Cell Biology.

Complex genotype-phenotype relationships shape the response to treatment of Down Syndrome Childhood Acute Lymphoblastic Leukaemia

A. Trumpp, P. Woll, A. Marciniak-Czochra, 2022, bioRxiv.

New methods in cytogenetics.

L. Kearney, V. Buckle, 1994, Current opinion in genetics & development.

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

M. Brand, D. Ferguson, R. Schwessinger, 2020, Haematologica.

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2019, bioRxiv.

Chromosome maps of man and mouse, III.

M. Lyon, J. Edwards, V. Buckle, 1987, Genomics.

High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale

R. Schwessinger, Matthew E. Gosden, D. Downes, 2021, Nature Communications.

A biophysical model for transcription factories

Shamit Soneji, Tariq Enver, T. Enver, 2013, BMC biophysics.

Characterization of the telomeric region of human chromosome 16p

P. Vyas, D. Higgs, P. Harris, 1993 .

α-particle-induced chromosomal instability in human bone marrow cells

D. T. Goodhead, E. G. Wright, D. Goodhead, 1994, The Lancet.

Telomere directed fragmentation of mammalian chromosomes

Michael A. Barnett, Edward P. Evans, Veronica J. Buckle, 1993, Nucleic Acids Res..

Loss of both CSF1R (FMS) alleles in patients with myelodysplasia and a chromosome 5 deletion.

D. Oscier, L. M. Wang, V. Buckle, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Molecular mapping of uncharacteristically small 5q deletions in two patients with the 5q- syndrome: delineation of the critical region on 5q and identification of a 5q- breakpoint.

V. Buckle, J. Boultwood, J. Wainscoat, 1994, Genomics.

Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome

D. Oscier, V. Buckle, J. Boultwood, 1993 .

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

S. McGowan, V. Buckle, C. Babbs, 2019, Rheumatology.

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

J. Hughes, D. Higgs, N. Roberts, 2017, bioRxiv.

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

J. Dekker, R. Schwessinger, D. Downes, 2018, Nature Genetics.

Hematological features of patients with myelodysplastic syndromes associated with a chromosome 5q deletion

J Boultwood, D. Oscier, F. Ross, 1995, American journal of hematology.

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

A. Wilkie, D. Weatherall, D. Higgs, 1990, American journal of human genetics.

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

A. Pombo, W. Bickmore, D. Higgs, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Structure of the granulocyte macrophage colony‐stimulating factor gene in patients with the myelodysplastic syndromes

D. Oscier, V. Buckle, J. Boultwood, 1990, American journal of hematology.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Peter Donnelly, Gil McVean, Chris P. Ponting, 2013, Haematologica.

Expression of α- and β-globin genes occurs within different nuclear domains in haemopoietic cells

A. Fisher, D. Higgs, V. Buckle, 2001, Nature Cell Biology.

Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level

D. Higgs, V. Buckle, C. Babbs, 2022, British journal of haematology.

Genetic and functional insights into CDA-I prevalence and pathogenesis

J. Marsh, P. McHugh, D. Downes, 2020, Journal of Medical Genetics.

Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)

M. Brand, D. Ferguson, R. Schwessinger, 2019, bioRxiv.

Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemia

P. Woll, C. Lutz, A. Schuh, 2013, Leukemia.

Alpha-particle-induced chromosomal instability in human bone marrow cells.

D T Goodhead, D. Goodhead, E. Wright, 1994, Lancet.

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.

A. Wilkie, D. Higgs, J. Sharpe, 1990, Blood.

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.

D. Ferguson, L. Bird, D. Higgs, 2010, Blood.

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

A. Wilkie, D. Higgs, V. Buckle, 1992, American journal of human genetics.

On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation

D. Higgs, J. Sharpe, J. Sloane-Stanley, 2021, bioRxiv.

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors

S. Knight, D. Higgs, Yukio Nakamura, 2018, Methods and protocols.

How transcriptional and epigenetic programmes are played out on an individual mammalian gene cluster during lineage commitment and differentiation.

J. Hughes, D. Higgs, M. De Gobbi, 2006, Biochemical Society symposium.

Dissection of the 4D chromatin structure of the α-globin locus through in vivo erythroid differentiation with extreme spatial and temporal resolution

Daniel Hidalgo, M. Socolovsky, Matthew E. Gosden, 2019, bioRxiv.

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

K. Davies, M. Francis, K. Morrison, 1992, American journal of human genetics.

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

K. Davies, V. Dubowitz, M. Francis, 1993, Human Genetics.

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

C. Mathew, K. Davies, M. Bobrow, 1997, Journal of medical genetics.

Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1)

P. Bolton, M. Rutter, A. Monaco, 1995, Psychiatric genetics.

Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus

K. Davies, J. Guénet, V. Buckle, 1990, Human Genetics.

a-Thalassemia Caused by a Large ( 62 kb ) Deletion Upstream of the Human a Globin Gene Cluster

Sharpe, V. Buckle, H. Ayyub, 2003 .

Acute promyelocytic transformation in a case of acute myelomonocytic leukemia.

V. Buckle, J. Pearson, D. Moir, 1984, Cancer genetics and cytogenetics.

Chromatin arranges in filaments of blobs with nanoscale functional zonation

James D. P. Rhodes, L. Schermelleh, V. Buckle, 2019 .

for allograft rejection in peripheral blood samples Interference of globin genes with biomarker discovery

W. Xiao, Ronald W. Davis, A. Nandi, 2015 .

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

K. Davies, S. Knight, J. Barber, 1993, Journal of medical genetics.

Structure of the human DNA repair gene HAP1 and its localisation to chromosome 14q 11.2-12.

C. Robson, I. Hickson, D. Hochhauser, 1992, Nucleic acids research.

A large duplicated area in the polycystic kidney disease 1 (PKD1) region of chromosome 16 is prone to rearrangement.

R. Stallings, P. Ratcliffe, P. Harris, 1994, Genomics.

Translocation 1;7 in hematologic disorders--a report of three further cases. Absence of amplification of the gene for the epidermal growth factor receptor.

D. Oscier, V. Buckle, J. Wainscoat, 1991, Cancer genetics and cytogenetics.

The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE.

K. Davies, M. Bobrow, V. Buckle, 1993, Human molecular genetics.

Initiating and Cancer-Propagating Cells in TEL-AML1-Associated Childhood Leukemia

T. Enver, M. Greaves, M. Greaves, 2008, Science.

HOMOZYGOUS DELETION OF FMS IN A PATIENT WITH THE 5q— SYNDROME

D. Oscier, V. Buckle, J. Boultwood, 1990, British journal of haematology.

Complex genotype-phenotype relationships shape the response to treatment of Down Syndrome Childhood Acute Lymphoblastic Leukaemia

A. Trumpp, P. Woll, A. Marciniak-Czochra, 2022, bioRxiv.

Relationship between Novel Isoforms, Functionally Important Domains, and Subcellular Distribution of CD164/Endolyn*

A. Zannettino, C. Ward, V. Buckle, 2001, The Journal of Biological Chemistry.

Dynamics of the 4D genome during lineage specification, differentiation and maturation in vivo

Daniel Hidalgo, M. Socolovsky, Matthew E. Gosden, 2019 .

Association between active genes occurs at nuclear speckles and is modulated by chromatin environment

F. Iborra, J. Hughes, D. Higgs, 2008 .

Association between active genes occurs at nuclear speckles and is modulated by chromatin environment

F. Iborra, J. Hughes, D. Higgs, 2008 .

Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome.

D. Oscier, V. Buckle, J. Boultwood, 1993, Blood.

Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).

N. Brockdorff, J. Gault, A. Clarke, 1993, Human Molecular Genetics.

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models

D. Marenduzzo, C. Brackley, J. Hughes, 2016, Genome Biology.

Chromosome maps of man and mouse II

M. Lyon, J. Edwards, V. Buckle, 1984 .

Global gene expression analysis of human erythroid progenitors.

A. Nandi, S. McGowan, D. Higgs, 2011, Blood.

ATR-16 syndrome: mechanisms linking monosomy to phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2020, Journal of Medical Genetics.

Coregulated human globin genes are frequently in spatial proximity when active

F. Iborra, D. Higgs, A. Atzberger, 2006, The Journal of cell biology.

Dynamics of the 4D genome during in vivo lineage specification and differentiation

Daniel Hidalgo, M. Socolovsky, D. Higgs, 2020, Nature Communications.