The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
AJ Hamilton, C Bingham, TJ McDonald… - Journal of medical …, 2014 - jmg.bmj.com
Background Mutation specific effects in monogenic disorders are rare. We describe atypical
Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous …
Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous …
[HTML][HTML] Pitfalls of haplotype phasing from amplicon-based long-read sequencing
TW Laver, RC Caswell, KA Moore, J Poschmann… - Scientific reports, 2016 - nature.com
The long-read sequencers from Pacific Bioscience (PacBio) and Oxford Nanopore
Technologies (ONT) offer the opportunity to phase mutations multiple kilobases apart …
Technologies (ONT) offer the opportunity to phase mutations multiple kilobases apart …
Noninvasive fetal genotyping by droplet digital PCR to identify maternally inherited monogenic diabetes variants
RC Caswell, T Snowsill, JAL Houghton… - Clinical …, 2020 - academic.oup.com
Background Babies of women with heterozygous pathogenic glucokinase (GCK) variants
causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the …
causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the …
[HTML][HTML] Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
RC Caswell, AC Gunning, MM Owens, S Ellard… - Genome Medicine, 2022 - Springer
Background The widespread clinical application of genome-wide sequencing has resulted
in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of …
in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of …
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
MJ Hamilton, RC Caswell, N Canham, T Cole… - Journal of medical …, 2018 - jmg.bmj.com
Introduction Recent evidence has emerged linking mutations in CDK13 to syndromic
congenital heart disease. We present here genetic and phenotypic data pertaining to 16 …
congenital heart disease. We present here genetic and phenotypic data pertaining to 16 …
[HTML][HTML] Primate-specific ZNF808 is essential for pancreatic development in humans
Identifying genes linked to extreme phenotypes in humans has the potential to highlight
biological processes not shared with all other mammals. Here, we report the identification of …
biological processes not shared with all other mammals. Here, we report the identification of …
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
AM Muir, JF Gardner, RH van Jaarsveld… - Genetics in …, 2021 - nature.com
Abstract Purpose Neurodevelopmental disorders (NDDs) encompass a spectrum of
genetically heterogeneous disorders with features that commonly include developmental …
genetically heterogeneous disorders with features that commonly include developmental …
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1
RC Caswell, MM Owens, AC Gunning… - Journal of the …, 2019 - academic.oup.com
Despite the rapid expansion in recent years of databases reporting either benign or
pathogenic genetic variations, the interpretation of novel missense variants remains …
pathogenic genetic variations, the interpretation of novel missense variants remains …
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition
characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia …
characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia …
[PDF][PDF] Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
E Wakeling, M McEntagart, M Bruccoleri… - Human Genetics and …, 2021 - cell.com
Histone deacetylases play crucial roles in the regulation of chromatin structure and gene
expression in the eukaryotic cell, and disruption of their activity causes a wide range of …
expression in the eukaryotic cell, and disruption of their activity causes a wide range of …