Ruth Newbury‐Ecob
A5076574479- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Congenital limb and hand anomalies
- Hedgehog Signaling Pathway Studies
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Protein Tyrosine Phosphatases
- Connective tissue disorders research
- Chromatin Remodeling and Cancer
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Congenital Heart Disease Studies
- Ion channel regulation and function
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Chromosomal and Genetic Variations
- Hereditary Neurological Disorders
St Michael's Hospital
2015-2024
University Hospitals Bristol NHS Foundation Trust
2015-2024
St Michael’s Hospital
2003-2022
St Michaels Hospital
2011-2022
Bristol Royal Hospital for Children
1999-2020
University of Bristol
2012-2020
University College London
2020
Versus Arthritis
2020
Great Ormond Street Hospital
2020
Royal Devon & Exeter NHS Foundation Trust
2020
BackgroundFetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; detectable microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy CNVs is routine during the investigation fetal but there little information on clinical usefulness genome-wide next-generation sequencing prenatal setting. We therefore aimed to evaluate proportion fetuses with...
This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, diagnostic genetic mutation was identified 8.5% fetuses, more commonly those multisystem anomalies (15.4%), skeletal or cardiac (11.1%). The lowest yield, only 3.2%, isolated increased nuchal translucency first trimester.
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in United Kingdom involving 55 cases designated syndrome, together with their parents sibs. Data from assessment both familial isolated were used to define HOS phenotype outline spectrum abnormalities, especially factors affecting severity. Skeletal defects affected upper limbs exclusively bilateral asymmetrical. They ranged minor signs such as clinodactyly, limited supination, sloping shoulders severe...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
<b>Objective:</b> To determine the frequency of mutations in <i>CDKL5</i> both male and female patients with infantile spasms or early onset epilepsy unknown cause, to consider whether breadth reported phenotype would be extended by studying a different patient group. <b>Methods:</b> Two groups were investigated for mutations. Group 1 comprised 73 (57 female, 16 male) referred Cardiff analysis, whom 49 (42 7 had epileptic seizure first six months life. 2 26 (11 15 previously recruited...
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay caused mutations in ANKRD11 , one of the ankyrin repeat‐containing cofactors. We describe 32 patients aged 2–47 years from 27 families ascertained via two pathways: targeted sequencing (TS) a group who had clinical diagnosis whole exome (ES) second whom was unknown. Speech learning difficulties were almost universal variable behavioral problems frequent. Macrodontia permanent upper...
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability first described in 2014 with a report of 13 individuals constitutive heterozygous DNMT3A variants. Here we have undertaken detailed clinical study 55 de novoDNMT3A variants, including previously reported individuals. An and were >80% TBRS designated major associations. Additional frequent associations (reported 20-80% individuals) included evolving facial...
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations several chromatin ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation CHD3, identified whole genome sequencing cohort children rare speech To gain comprehensive view features associated disruption this gene, we use genotype-driven approach, collecting and characterizing 35 individuals CHD3 mutations overlapping phenotypes. Most...