Tessa Homfray
A5029544703- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Cardiac electrophysiology and arrhythmias
- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Genetic factors in colorectal cancer
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Genetic Syndromes and Imprinting
- RNA modifications and cancer
- RNA regulation and disease
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Colorectal Cancer Screening and Detection
- Tumors and Oncological Cases
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Cardiac Arrhythmias and Treatments
- BRCA gene mutations in cancer
- Connective tissue disorders research
- Sports injuries and prevention
- Genomics and Chromatin Dynamics
Harris Birthright Research Centre for Fetal Medicine
2014-2024
King's College Hospital
2014-2024
St George's Hospital
2007-2024
St George's, University of London
2014-2023
St George’s University Hospitals NHS Foundation Trust
2015-2023
Royal Brompton Hospital
2017-2023
Institute of Cancer Research
2022
Royal Brompton & Harefield NHS Foundation Trust
2016-2021
Harefield Hospital
2020-2021
University of London
2010-2020
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...
Abstract Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by uniform, widespread affecting all segments the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces pericardial effusions. This may present prenatally non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1 , resulting an autosomal recessive GLD high incidence hydrops fetalis childhood onset...
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.
Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription that plays key role in regulating adrenal and gonadal development, steroidogenesis, reproduction. Targeted deletion of Nr5a1 (Sf1) the mouse results agenesis, XY sex-reversal, persistent Müllerian structures males. Consistent with murine phenotype, human mutations SF1 were described initially two 46,XY individuals female external genitalia, (uterus), primary failure.Given recent case reports...
Background— Genetic predisposition to life-threatening cardiac arrhythmias such as congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) represent treatable causes of sudden death in young adults children. Recently, mutations calmodulin ( CALM1 , CALM2 ) have been associated with severe forms LQTS CPVT, occurring very early life. Additional mutation-positive cases are needed discern genotype–phenotype correlations mutations. Methods Results— We...
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals typical CdLS have novo heterozygous loss-of-function mutations in NIPBL mosaic representing significant proportion. Mutations other cohesin components, SMC1A, SMC3, HDAC8 RAD21 cause less CdLS.We screened 163 affected for coding region the known genes, 90 genomic rearrangements, 19 deep intronic variants 5 had...
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...
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, recurrence risk 1-2% is frequently quoted due to possibility parental germline mosaicism; but for any specific couple, this figure usually incorrect. We present systematic approach providing individualized risk. By combining locus-specific sequencing multiple tissues detect occult mosaicism with long-read determine parent-of-origin we show that can stratify majority couples into one seven discrete...
Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well point mutations affecting one allele of the zinc finger gene GLI3. In addition GCPS, Pallister-Hall syndrome (PHS; 146510) post-axial polydactyly type A (PAP-A; 174200), two other disorders human development, are caused GLI3 mutations. order gain more insight into mutational spectrum a single phenotype, we...
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency many clinical features has never been determined. We retrospectively investigated clinical, radiological, genotypic data in 93 patients molecularly confirmed SEDC or related disorder. The majority (80/93) had short stature, radiological (n = 64), others having SEMD 5), Kniest dysplasia 7), spondyloperipheral 2),...
Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential test for future pregnancies. We describe our novel strategy exome sequencing parental DNA samples to diagnose recessive monogenic an audit first 50 referred.Exome was carried out consecutive series who had 1 more pregnancies affected with lethal prenatal-onset disorder. In all cases, there insufficient...