R. Caswell

发表

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Anna Murray, Khalid Hussain, Ludovic Vallier, 2013, Nature Genetics.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

A. Green, M. Weedon, M. O'sullivan, 2013, American journal of human genetics.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

A. Hattersley, S. Ellard, C. Shaw-Smith, 2015, European Journal of Human Genetics.

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY

S. Ellard, A. Gloyn, R. Caswell, 2011, Diabetologia.

GATA6 haploinsufficiency causes pancreatic agenesis in humans

A. Hattersley, S. Ellard, C. Shaw-Smith, 2011, Nature Genetics.

Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912

S. Ellard, N. Oliver, A. Gloyn, 2020, Diabetes Care.

Functional analysis of the Huntington's disease (HD) gene promoter.

D. Rubinsztein, R. Caswell, R. Coles, 1998, Human molecular genetics.

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

Adam C Gunning, S. Ellard, C. Wright, 2019, bioRxiv.

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

Adam C Gunning, S. Ellard, C. Wright, 2019, bioRxiv.

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

S. Ellard, N. Oliver, A. Gloyn, 2020, Diabetes Care.

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

A. Offiah, R. Caswell, S. Naik, 2021, American journal of medical genetics. Part A.

Human cytomegalovirus mediates cell cycle progression through G(1) into early S phase in terminally differentiated cells.

R. Caswell, J. Sinclair, J. Baillie, 2000, The Journal of general virology.

Basic science232. Certolizumab pegol prevents pro-inflammatory alterations in endothelial cell function

H. L. Wright, R. Moots, T. Spector, 2012 .

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Adam C Gunning, S. Ellard, C. Wright, 2022, Genome medicine.

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

S. Ellard, H. Lango Allen, H. L. Allen, 2017, Pediatric diabetes.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation

Ellard, M. Weedon, N. Sebire, 2017 .

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

F. Denoyelle, S. Lyonnet, R. Caswell, 2022, European journal of human genetics : EJHG.

A survey of virus infections of the respiratory tract of cattle and their association with disease

R. Caswell, G. Smith, L. Thomas, 1980, Journal of Hygiene.

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

A. Hattersley, S. Ellard, F. Urano, 2017, Diabetes.

Studies on the binding of the Escherichia coli MelR transcription activator protein to operator sequences at the MelAB promoter.

S. Busby, R. Caswell, C. Webster, 1992, The Biochemical journal.

Analysis of the human herpesvirus-6 immediate-early 1 protein.

J. Fox, R. Stanton, G. Wilkinson, 2002, The Journal of general virology.

Regulation of human and mouse procathepsin E gene expression.

J. Kay, R. Caswell, R. Richards, 2001, European journal of biochemistry.

Copy number variation of LINGO1 in familial dystonic tremor

J. Chilton, T. Iype, E. Louis, 2019, Neurology: Genetics.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

P. Chanson, S. Ellard, R. Stein, 2018, Proceedings of the National Academy of Sciences.

A MAFA missense mutation causes familial insulinomatosis and diabetes mellitus 1 2

P. Chanson, S. Ellard, R. Stein, 2018 .

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta neuropathologica communications.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta Neuropathologica Communications.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

P. Mehta, R. Caswell, C. Tysoe, 2012, Rheumatology.

Human cytomegalovirus immediate-early 2 (IE2) protein can transactivate the human hsp70 promoter by alleviation of Dr1-mediated repression

R. Caswell, J. Sinclair, L. Bryant, 1996, Journal of virology.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Robert W. Taylor, J. Lupski, S. Ellard, 2020, American journal of human genetics.

Primate-specific ZNF808 is essential for pancreatic development in humans

A. Hattersley, S. Ellard, C. Wright, 2021, medRxiv.

Functional interaction between the HCMV IE2 transactivator and the retinoblastoma protein.

T. Kouzarides, R. Caswell, G. Hayhurst, 1994, The EMBO journal.

The human cytomegalovirus 86K immediate early (IE) 2 protein requires the basic region of the TATA-box binding protein (TBP) for binding, and interacts with TBP and transcription factor TFIIB via regions of IE2 required for transcriptional regulation.

T. Kouzarides, G. Hayward, C. Chiou, 1993, The Journal of general virology.

Overexpression, purification and characterization of the Escherichia coli MelR transcription activator protein.

S. Busby, R. Caswell, J. Williams, 1992, The Biochemical journal.

The human cytomegalovirus 80-kilodalton but not the 72-kilodalton immediate-early protein transactivates heterologous promoters in a TATA box-dependent mechanism and interacts directly with TFIID

T. Kouzarides, R. Caswell, J. Sinclair, 1992, Journal of virology.

A multicentre study on the reliability of qualitative and quantitative nail-fold videocapil-laroscopy

R. Caswell, C. Tysoe, A. Mitchell, 2012 .

Prenatal testing for a novel EBP missense mutation causing X‐linked dominant chondrodysplasia punctata

S. Ellard, P. Clayton, R. Caswell, 2008, Prenatal diagnosis.

An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

H. Waterham, R. Caswell, C. Tysoe, 2014, American journal of medical genetics. Part A.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

S. Ellard, A. Offiah, E. Baple, 2019, Human molecular genetics.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

M. Weedon, S. Ellard, K. Paszkiewicz, 2011, American journal of human genetics.

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders.

J. Mill, K. Lunnon, C. Troakes, 2015, BioTechniques.

An activation-defective mutant of the human cytomegalovirus IE2p86 protein inhibits NF-kappaB-mediated stimulation of the human interleukin-6 promoter.

M. Stinski, R. Caswell, C. Humphreys, 2007, The Journal of general virology.

Short Communication An activation-defective mutant of the human cytomegalovirus IE2p86 protein inhibits NF-kB-mediated stimulation of the human interleukin-6 promoter

M. Stinski, R. Caswell, C. Humphreys, 2007 .

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

CCAAT box-dependent activation of the TATA-less human DNA polymerase alpha promoter by the human cytomegalovirus 72-kilodalton major immediate-early protein

R. Caswell, G. Hayhurst, J. Sinclair, 1995, Journal of virology.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

M. Weedon, A. Hattersley, S. Ellard, 2013, Diabetologia.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

S. Ellard, H. Lango Allen, K. Stals, 2014, European Journal of Human Genetics.

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

S. Ellard, J. Baptista, R. Caswell, 2019, European journal of medical genetics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Sian Ellard, Karen A Moore, M. Weedon, 2016, Scientific Reports.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

A. Hattersley, S. Ellard, M. Herr, 2009, Diabetes Care.

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management

S. Ellard, M. Korbonits, S. Albrecht, 2016, The Journal of clinical endocrinology and metabolism.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

M. Weedon, A. Hattersley, K. Kos, 2013, Nature Genetics.

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

A. Hattersley, S. Ellard, B. Knight, 2020, Clinical chemistry.

Mitochondrial Retinopathy.

P. Charbel Issa, R. Caswell, W. Kunz, 2021, Ophthalmology. Retina.

Posttranscriptional Suppression of Interleukin-6 Production by Human Cytomegalovirus

G. Wilkinson, R. Caswell, C. Humphreys, 2005, Journal of Virology.

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

A. Hattersley, S. Ellard, D. Ron, 2019, Diabetes.

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

J. Kere, A. Hattersley, Å. Lernmark, 2014, Nature Genetics.

Attempts to engineer an Escherichia coli DNA-binding protein as a tool for affinity purification of heterologous proteins

S. Busby, R. Caswell, A. Lyddiatt, 1993 .

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Richard Caswell, Sian Ellard, Peter D Turnpenny, 2014, Journal of Medical Genetics.

Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2

M. Weedon, S. Ellard, N. Sebire, 2017 .

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

M. Weedon, S. Ellard, N. Sebire, 2017, Journal of the American Society of Nephrology : JASN.

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

B. Shields, M. Weedon, A. Hattersley, 2013, Journal of Medical Genetics.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Christophe Béroud, Nicolas Lévy, Richard Caswell, 2017, Metabolism: clinical and experimental.

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

W. Newman, S. Roberts, R. Caswell, 2020, Journal of Human Genetics.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

S. Ellard, H. L. Allen, P. Brennan, 2016, Clinical endocrinology.

Differential relocation and stability of PML-body components during productive human cytomegalovirus infection: detailed characterization by live-cell imaging.

G. Wilkinson, D. Spandidos, G. Sourvinos, 2010, European journal of cell biology.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Bethan E. Hoskins, A. Reymond, S. Ellard, 2022, Human molecular genetics.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

C. Lelliott, A. Hattersley, R. Siebert, 2019, American journal of human genetics.

Molecular cloning and heterologous expression of a Klebsiella pneumoniae gene encoding alginate lyase.

R. Caswell, A. Weightman, P. Gacesa, 1989, Gene.

Detection of alginate lyases by isoelectric focusing and activity staining

R. Caswell, A. Weightman, P. Gacesa, 1986 .

Sedaghatian spondylometaphyseal dysplasia in two siblings.

S. Ellard, R. Caswell, U. Kariholu, 2022, European journal of medical genetics.

Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes

A. Hattersley, S. Ellard, V. Iotova, 2016, Diabetic medicine : a journal of the British Diabetic Association.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

A. Hattersley, S. Ellard, C. Shaw-Smith, 2016, Diabetes.

Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

P. Charbel Issa, R. Caswell, C. Tysoe, 2020, American journal of ophthalmology.

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model

S. Ellard, Edgar Buhl, K. Stals, 2022, Clinical genetics.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

S. Ellard, R. Caswell, S. Smithson, 2018, American journal of medical genetics. Part A.

in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

M. Weedon, S. Ellard, K. Paszkiewicz, 2011 .

The HNF 4 A R 76 W

B. Shields, M. Weedon, A. Hattersley, 2014 .

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

J. D. Mills, I. Scheffer, S. Sisodiya, 2023, Brain : a journal of neurology.

Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.

J. Baptista, H. Stewart, R. Caswell, 2023, European Journal of Medical Genetics.

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2

T. Laver, S. Flanagan, R. Caswell, 2023, medRxiv.

Analysis of large‐scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia

M. Weedon, S. Ellard, T. Laver, 2017, Human mutation.

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

M. Weedon, S. Ellard, M. Wabitsch, 2020, Wellcome open research.

Control and heterologous expression in Escherichia coli of the Klebsiella pneumoniae gene encoding alginate lyase

R. Caswell, P. Gacesa, 1990, Hydrobiologia.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

J. Clayton-Smith, S. Ellard, K. Stals, 2018, European Journal of Human Genetics.

Analysis of protein-protein interactions during cytomegalovirus infection.

R. Caswell, 2000, Methods in Molecular Medicine.

R. Caswell, I. Scurr, M. Babiker, 2019, European journal of medical genetics.

Differential relocation and stability of PML-body components during productive human cytomegalovirus infection: detailed characterization by live-cell imaging.

G. Wilkinson, D. Spandidos, G. Sourvinos, 2010, European journal of cell biology.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, B. Gener, D. Pilz, 2018, American journal of human genetics.