Natalie Canham
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View article: Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics Open
View article: Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 Open
Background Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospecti…
View article: Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly Open
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 ( FGFR3 ) gene variants and loss-of-function elongatio…
View article: The Use of Expanded Carrier Screening in Reproductive Medicine
The Use of Expanded Carrier Screening in Reproductive Medicine Open
Plain language summary Expanded carrier screening (ECS) is a genetic screening test carried out by analysing a blood sample. This screen can be used to detect whether the individual unknowingly carries gene variants associated with common …
View article: Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences Open
Introduction In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory …
View article: The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project Open
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome sequencing data for 33,924 familie…
View article: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation Open
View article: Prenatal exome sequencing and impact on perinatal outcome: cohort study
Prenatal exome sequencing and impact on perinatal outcome: cohort study Open
Objectives First, to determine the uptake of prenatal exome sequencing (pES) and the diagnostic yield of pathogenic (causative) variants in a UK tertiary fetal medicine unit following the introduction of the NHS England Rapid Exome Sequenc…
View article: Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes Open
This is the largest case-control whole-exome analysis of enriched breast cancer published to date. Whilst additional breast cancer susceptibility genes likely exist, those of high penetrance are likely to be of very low mutational frequenc…
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: Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Open
Objective To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design Cohort study. Setting National Health Service, England, including secondary and tertiary care. Part…
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
View article: Table of Contents, Volume 182A, Number 7, July 2020
Table of Contents, Volume 182A, Number 7, July 2020 Open
View article: Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review
Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review Open
With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first‐line investigation in clinical work‐up of children with developmental delay/intellectual disability (ID). As a result, the ne…
View article: Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Open
View article: Significant Benefits of <i>AIP</i> Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
Significant Benefits of <i>AIP</i> Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors Open
Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective T…
View article: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome Open
KMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in dis…
View article: Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data Open
View article: Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Open
View article: S14-08 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III A COMPREHENSIVE PHENOTYPIC STUDY OF ERF-RELATED CRANIOSYNOSTOSIS
S14-08 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III A COMPREHENSIVE PHENOTYPIC STUDY OF ERF-RELATED CRANIOSYNOSTOSIS Open
Introduction: Heterozygous mutations in the ERF gene cause a form of craniosynostosis thought to account for about 2% of all syndromic presentations. Reports have implicated ERF mutations in both single and multi-sutural synostosis, Chiari…
View article: CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Open
View article: Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Open
View article: ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome Open
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari‐1 malformation, speech a…
View article: Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Open
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of…
View article: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Open
View article: A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma
A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma Open
Summary Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas occur in a familial setting, either in isolated or syndromic form. Recently, loss…
View article: Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes Open
View article: Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Open
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders…
View article: High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Open