List of works - Richard Caswell

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

scientific article published on 20 March 2017

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

scientific article published on 18 April 2019

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

scientific article

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

scientific article published on 01 November 2019

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

scientific article

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

scientific article published on September 2007

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

scientific article

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

scientific article

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

scientific article published on 23 January 2014

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

scientific article published on 29 June 2016

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

scientific article

Analysis of protein-protein interactions during cytomegalovirus infection.

scientific article

Bacterial alginases

scientific article published on 01 January 1989

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

scientific article published on 12 August 2015

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

scientific article published on December 2015

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

scientific article published on 10 March 2020

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

scientific article published on 17 October 2008

Copy number variation of in familial dystonic tremor

scientific article published on 04 February 2019

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

scientific article published on 27 December 2019

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

scientific article published on 2 November 2017

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

scientific article published in October 2010

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on May 1998

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

scientific article

GATA6 haploinsufficiency causes pancreatic agenesis in humans

scientific article

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

scientific article published in 2022

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

scientific article

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

Heterologous expression and cellular distribution in Escherichia coli of the gene from Klebsiella pneumoniae which encodes alginate lyase

scientific article published on 01 October 1990

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

scientific article

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

scientific article published on 30 January 2020

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

scientific article published on 01 June 2000

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

scientific article published on 15 June 2013

In vitro transcription/translation of the alginate lyase gene from Klebsiella pneumoniae and detection of a precursor form of the enzyme

scientific article published on 01 October 1990

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

scientific article published on 09 June 2016

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

scientific article published on 16 January 2018

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

article

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

scientific article published in December 2018

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

scientific article published on 01 January 1989

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

scientific article published on 23 January 2014

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

scientific article

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

scientific article published on 26 April 2012

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

scientific article published on October 15, 1992

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

scientific article published on 6 March 2018

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

scientific article

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

scientific article published on 3 April 2017

Posttranscriptional suppression of interleukin-6 production by human cytomegalovirus.

scientific article

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

scientific article

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

scientific article

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

scientific article published on 30 January 2020

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

scientific article published on 08 October 2019

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

scientific article

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

scientific article published on 16 March 2016

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

scientific article published on October 15, 1992

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

scientific article published on 25 August 2018

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

scientific article

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 regulatio

scientific article published on 01 December 1993

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

scientific article

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

scientific article published on 27 September 2019

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

scientific article

List of works by Richard Caswell

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

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

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

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

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

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

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

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

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

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

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

Analysis of protein-protein interactions during cytomegalovirus infection.

Bacterial alginases

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

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

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

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

Copy number variation of in familial dystonic tremor

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

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

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

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

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

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

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

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

GATA6 haploinsufficiency causes pancreatic agenesis in humans

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

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

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

Heterologous expression and cellular distribution in Escherichia coli of the gene from Klebsiella pneumoniae which encodes alginate lyase

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

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

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

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

In vitro transcription/translation of the alginate lyase gene from Klebsiella pneumoniae and detection of a precursor form of the enzyme

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

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

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

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

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

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

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

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

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

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

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

Posttranscriptional suppression of interleukin-6 production by human cytomegalovirus.

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

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

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

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

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

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

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

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

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

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 regulatio

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

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

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia