Jane A. Hurst
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View article: Contrast‐Enhanced Ultrasound (CEUS) Reveals Perfusion of Human Bone in Acute Fracture Healing: A Pilot Study
Contrast‐Enhanced Ultrasound (CEUS) Reveals Perfusion of Human Bone in Acute Fracture Healing: A Pilot Study Open
Bone fractures are common injuries with reported non‐union rates of up to 9%. Current treatments for non‐union include surgery with complication rates of up to 17% and significant costs. Microbubbles are used clinically in ultrasonography …
View article: Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications Open
Background Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and requires a technology able to span the entire dup…
View article: Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders Open
Background Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute. Littl…
View article: Germline homozygous missense <i>DEPDC5</i> variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Germline homozygous missense <i>DEPDC5</i> variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria Open
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with fo…
View article: The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic <i>de novo</i> mutation
The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic <i>de novo</i> mutation Open
Next-generation sequencing has led to a dramatic improvement in molecular diagnoses of serious pediatric disorders caused by apparently de novo mutations (DNMs); by contrast, clinicians’ ability to counsel the parents about the risk of rec…
View article: Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Open
PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyze…
View article: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Open
Purpose Heterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-I…
View article: Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era Open
This is a Class II diagnostic accuracy study showing that the combination of CSF and plasma biochemical tests plus neuroimaging could predict the presence or absence of exome sequencing confirmed mitochondrial disorders.
View article: Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features Open
Exome sequencing and Drosophila modeling revealed variants in SMARCA5 as a novel cause of a neurodevelopmental disorder.
View article: Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Open
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutatio…
View article: 14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia Open
Cenani-Lenz syndactyly (CLS) is a rare autosomal recessive syndrome characterized by disorganized oligosyndactyly of upper and lower limbs as well as radioulnar synostosis. Structural renal abnormalities are also common. We report two aff…
View article: Pathogenic variants in<i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Pathogenic variants in<i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features Open
Intellectual disability (ID) encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for over 50% of the patients remains elusive. We describe mutations in SMA…
View article: Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>
Genotype–phenotype correlation at codon 1740 of <span><i>SETD2</i></span> Open
The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual‐function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskelet…
View article: Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome Open
CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell–cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in n…
View article: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction Open
Altering the affinity and specificity of PAX6-binding genome-wide provides a plausible mechanism for the worse-than-null effects of MAC-associated missense variants.
View article: Novel truncating mutations in<i>CTNND1</i>cause a dominant craniofacial and cardiac syndrome
Novel truncating mutations in<i>CTNND1</i>cause a dominant craniofacial and cardiac syndrome Open
CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signaling. Due to advances in ne…
View article: Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children Open
Background Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected but unidentified at PICU admission. Compassionate and effectiv…
View article: Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children
Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children Open
Background Rare genetic conditions are frequent risk factors for, or direct causes of, organ failure requiring paediatric intensive care unit (PICU) support. Such conditions are frequently suspected but unidentified at PICU admission. Comp…
View article: Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency Open
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 …