about
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth diseaseAn in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyPitfalls of haplotype phasing from amplicon-based long-read sequencingGermline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.GATA6 haploinsufficiency causes pancreatic agenesis in humans.Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetesImproved genetic testing for monogenic diabetes using targeted next-generation sequencing.Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.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.An activation-defective mutant of the human cytomegalovirus IE2p86 protein inhibits NF-kappaB-mediated stimulation of the human interleukin-6 promoter.A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders.Posttranscriptional suppression of interleukin-6 production by human cytomegalovirus.Functional interaction between the HCMV IE2 transactivator and the retinoblastoma protein.Functional analysis of the Huntington's disease (HD) gene promoter.A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotoniaBiallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.Analysis of protein-protein interactions during cytomegalovirus infection.Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.Differential relocation and stability of PML-body components during productive human cytomegalovirus infection: detailed characterization by live-cell imaging.An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesTRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Richard Caswell
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Richard Caswell
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Richard Caswell
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Richard Caswell
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Richard Caswell
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type
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Richard Caswell
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Richard Caswell
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Richard Caswell
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Richard Caswell
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Richard Caswell
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prefLabel
Richard Caswell
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Richard Caswell
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Richard Caswell
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Richard Caswell
@nl
Richard Caswell
@sl
P106
P21
P31
P496
0000-0003-0713-4602