Emma Burkitt‐Wright
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View article: Healthcare professionals' perspectives on supporting individuals with <scp>NF1</scp> during pregnancy and decision‐making processes
Healthcare professionals' perspectives on supporting individuals with <span>NF1</span> during pregnancy and decision‐making processes Open
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision‐making and pregnancy care particularly complex. While previous research has focused large…
View article: Pregnancy experiences of expectant parents with Neurofibromatosis type 1: A qualitative interview study
Pregnancy experiences of expectant parents with Neurofibromatosis type 1: A qualitative interview study Open
Pregnancy in the context of Neurofibromatosis type 1 (NF1) may be emotionally complex due to uncertainties surrounding inheritance and the condition’s variable presentation. This study aimed to explore how expectant parents with NF1 experi…
View article: Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1
Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 Open
View article: Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper 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: A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Open
Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 - have bee…
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
Objective This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with Neurofibromatosis 1 (NF1) compared with typically developing (TD) children withou…
View article: The <scp>8th International RASopathies Symposium</scp>: Expanding research and care practice through global collaboration and advocacy
The <span>8th International RASopathies Symposium</span>: Expanding research and care practice through global collaboration and advocacy Open
Germline pathogenic variants in the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum …
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: Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood
Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood Open
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: WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression Open
WFS1 variants result in heterogenous phenotypes influenced by the mode of inheritance and the disease-causing alleles. Biallelic WFS1 variants cause more variable, but generally more severe, vision and RGC loss compared with heterozygous v…
View article: Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study Open
View article: Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey Open
AIM: To date, there is a lack of international guidelines regarding the management of the endocrine features of individuals with Noonan syndrome (NS). The aim was to develop a clinical practice survey to gather information on current treat…
View article: European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe Open
View article: Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists Open
Background: The majority of children with Noonan syndrome (NS) or other diseases from the RASopathy spectrum suffer from congenital heart disease. This study aims to survey cardiac care of this patient cohort within Europe.
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View article: The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience Open
Congenital ear anomalies and hearing impairment are often present in patients with underlying genetic disorders. Germline genomic variants are responsible for at least 50% of congenital and/or childhood-onset sensorineural hearing loss (SN…
View article: Bone Research Society Abstracts 2020
Bone Research Society Abstracts 2020 Open
Introduction: Alkaptonuria (AKU) is an iconic autosomal recessive severe multisystem disorder of the tyrosine degradation pathway due to lack of homogentisate dioxygenase resulting in increased circulating and urinary homogentisic acid (HG…
View article: Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 Open
Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were c…
View article: Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders Open
Purpose The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool,…
View article: Autism Spectrum Disorder Symptom Profile Across the RASopathies
Autism Spectrum Disorder Symptom Profile Across the RASopathies Open
Dysregulation of the Ras MAPK signaling pathway is implicated in the pathogenesis of autism spectrum disorder (ASD). The RASopathies, a group of disorders caused by mutations of the Ras/MAPK pathway genes, share many overlapping clinical f…
View article: Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts Open
View article: The sixth international RASopathies symposium: Precision medicine—From promise to practice
The sixth international RASopathies symposium: Precision medicine—From promise to practice Open
The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS‐mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manif…
View article: <p>Brittle cornea syndrome: current perspectives [Response to Letter]</p>
Brittle cornea syndrome: current perspectives [Response to Letter] Open
Andrew Walkden,1,2 Emma Burkitt-Wright,3,4 Leon Au1,2 1Manchester Royal Eye Hospital, Manchester University Foundation Trust, Manchester, UK; 2Medical Academic Health Sciences Centre, University of Manchester, UK; 3Genetic Medicine, Instit…
View article: Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome
Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome Open
Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies in…
View article: Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Open
View article: Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<scp>MAPK</scp> pathway
Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<span>MAPK</span> pathway Open
Aim To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/ MAPK pathway, namely Noonan, cardiofaciocutaneous ( CFC ), and Costello syndromes, particularly prevalence of autism spectrum disorder ( ASD ) and att…
View article: The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway Open
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaci…
View article: Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only Open