Wendy D. Jones
A5014189662- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Genetic and phenotypic traits in livestock
- Immunodeficiency and Autoimmune Disorders
- Rural development and sustainability
- Agricultural Economics and Policy
- Epilepsy research and treatment
- Horticultural and Viticultural Research
- Plant Physiology and Cultivation Studies
- Livestock and Poultry Management
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Sustainable Agricultural Systems Analysis
- Prenatal Screening and Diagnostics
- RNA regulation and disease
- Cancer-related gene regulation
- Historical Studies of British Isles
- Rangeland and Wildlife Management
- Archaeology and Natural History
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Forest Insect Ecology and Management
University College London
2012-2025
Great Ormond Street Hospital
2012-2025
Adelphi Group (United Kingdom)
2025
Great Ormond Street Hospital for Children NHS Foundation Trust
2017-2024
National Hospital for Neurology and Neurosurgery
2021
National Sheep Association
2020
Wellcome Sanger Institute
2014-2019
National Health Service
2018
St George's Hospital
2011-2012
University of London
2012
Human genome sequencing has transformed our understanding of genomic variation and its relevance to health disease, is now starting enter clinical practice for the diagnosis rare diseases. The question whether how some categories findings should be shared with individual research participants currently a topic international debate, development robust analytical workflows identify communicate clinically relevant variants paramount.
We estimated the genome-wide contribution of recessive coding variation in 6040 families from Deciphering Developmental Disorders study. The proportion cases attributable to variants was 3.6% patients European ancestry, compared with 50% explained by de novo mutations. It higher (31%) Pakistani owing elevated autozygosity. Half this burden is known genes. identified two genes not previously associated developmental disorders, KDM5B and EIF3F, functionally validated them mouse cellular...
Background Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such frequently suspected but unidentified at PICU Compassionate and effective is greatly assisted by definitive diagnostic information. There therefore a need to provide rapid diagnosis inform clinical management. To date, whole genome sequencing (WGS) approaches have proved successful in diagnosing proportion of children with rare diseases, results may...
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...
SMARCC2 (BAF170) is one of the invariable core subunits ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis corticogenesis. Pathogenic variants genes encoding other components have been associated with intellectual disability syndromes. Despite its significant biological role, not directly human disease previously. Using whole-exome sequencing web-based gene-matching program, we identified 15 individuals variable degrees...
Objective The term ‘precision medicine’ describes a rational treatment strategy tailored to one person that reverses or modifies the disease pathophysiology. In epilepsy, single case and small cohort reports document nascent precision medicine strategies in specific genetic epilepsies. aim of this multicentre observational study was investigate deeper complexity epilepsy. Methods A systematic survey patients with epilepsy molecular diagnosis conducted six tertiary centres including children...
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem arising from pathogenic variants in anchor pathway (GPI-AP) genes. Despite associating 24 at least 31 GPI-AP genes with human neurogenetic disease, prior reports limited to single without consideration the as whole and natural history data. In this multinational retrospective observational study, we systematically analyse molecular spectrum, phenotypic characteristics 83 individuals 75 unique...
Abstract An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge manifestations mutational spectrum is lacking. To address this, we performed detailed analysis 42 -related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, reviewed 35 additional previously reported patients. Analysis 77 affected identified 60 unique disease-causing (30...
Delineating the genetic causes of developmental disorders is an area active investigation. Mosaic structural abnormalities, defined as copy number or loss heterozygosity events that are large and present in only a subset cells, have been detected 0.2–1.0% children ascertained for clinical testing. However, frequency among healthy community not well characterized, which, if known, could inform better interpretation pathogenic burden this mutational category with disorders. In case–control...
Abstract Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families individuals DDs, and meta-analysed these data published on 3,287 similar disorders. show that the most significant factors influencing diagnostic yield of sex affected individual, relatedness their parents age both father mother. identified 94 genes mutation at genome-wide significance (P < 7 ×...
Abstract Background Upadacitinib (UPA), a Janus kinase inhibitor, was approved in 2022 to treat adults with moderate-severe ulcerative colitis (UC). While clinical trials have shown its efficacy, there are limited real-world data on the utilization and effectiveness of UPA routine practice across different countries. This study aimed assess impact disease remission symptom control for optimizing treatment outcomes patients UC. Methods Data were drawn from Adelphi Real World UC Disease...
Abstract Background Wiedemann–Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into behavioral characteristics. Importantly, parental perspectives particularly lacking. This study investigated commonalities in the characteristics through of parents’ lived experiences. Method We conducted in-depth interviews 25 parents children WSS United States...
Abstract Loss of function mutations in FREM1 have been demonstrated Manitoba‐oculo‐tricho‐anal (MOTA) syndrome and Bifid Nose Renal Agenesis Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with remains to be defined. We screened three probands features MOTA syndrome. In one severely affected infant who was diagnosed because bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos vaginal atresia, we found two nonsense likely result...
Abstract Context Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps Prader-Willi syndrome, patients also manifesting arthrogryposis. L1 a group of X-linked disorders that include hydrocephalus and lower limb spasticity, presents Objective We investigated the molecular basis underlying CH arthrogryposis five patients. Patients The heterozygous p.Q666fs*47 mutation maternally...
TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of is unknown. clinical features, the mutation spectrum, and underlying mechanisms ARED14 are poorly understood. Combining data from new previously published individuals established that primarily characterized by dental anomalies such as conical tooth cusps hypodontia, like those seen in with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed most pathogenic...
We report new genetic diagnoses of Dravet syndrome in a group adults with complex epilepsy unknown cause, under follow-up at tertiary center. Individuals and other features cause from our unit underwent whole-genome sequencing through the 100 000 Genomes Project. Virtual gene panels were applied to frequency-filtered variants based on phenotype summary. Of 1078 individuals recruited, 8 (0.74%) identified have pathogenic or likely variant SCN1A. Variant types as follows: nonsense (stopgain)...
Abstract DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target rapamycin (mTOR) pathway and is commonly implicated in sporadic familial focal epilepsies, both non-lesional association with cortical dysplasia. Germline pathogenic variants are typically heterozygous inactivating. We describe a novel phenotype caused by germline biallelic missense DEPDC5. Cases were identified clinically. Available records, including magnetic resonance imaging...
Abstract Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP 3 ) receptor type 1 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants cause congenital spinocerebellar ataxia 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. pathophysiological basis of different phenotypes is poorly understood. Objectives We aimed to identify novel SCA29 GLSP cases define core phenotypes, describe spectrum...