A5049601909- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Assisted Reproductive Technology and Twin Pregnancy
- Genetics and Neurodevelopmental Disorders
- Congenital Anomalies and Fetal Surgery
- Genomics and Rare Diseases
- Parvovirus B19 Infection Studies
- Pharmaceutical studies and practices
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Reproductive Biology and Fertility
- Pluripotent Stem Cells Research
- Renal and related cancers
- Autism Spectrum Disorder Research
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Biomedical Ethics and Regulation
- Congenital Ear and Nasal Anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Chromatin Remodeling and Cancer
- Metabolism and Genetic Disorders
Astley Ainslie Hospital
2024
Guy's Hospital
2008-2022
Guy's and St Thomas' NHS Foundation Trust
2011-2020
King's College London
1999-2020
Sorbonne Université
2019
Assistance Publique – Hôpitaux de Paris
2019
Pitié-Salpêtrière Hospital
2019
Institute of Genetics and Cancer
2019
University of Edinburgh
2019
University of Newcastle Australia
2018
Autism is characterized by impairments in reciprocal social interaction and communication, restricted stereotyped patterns of interests activities. Developmental difficulties are apparent before 3 years age there evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search loci autism was performed on 87 affected sib pairs plus 12 non-sib relative-pairs, from a total 99 families identified an international consortium. Regions six...
Preimplantation genetic diagnosis (PGD) offers polymerase chain reaction tests for an increasing range of single gene defects, and fluorescence in situ hybridization sex determination (for X-linked conditions) aneuploidy detection. Patients carrying chromosome translocations with a high reproductive risk are increasingly seeking to increase their chances normal pregnancy the help PGD, which they present special challenge. This paper describes behaviour reciprocal at meiosis, discusses...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
<h3>Objective:</h3> To define a distinct <i>SCN1A</i> developmental and epileptic encephalopathy with early onset, profound impairment, movement disorder. <h3>Methods:</h3> A case series of 9 children were identified mutation. <h3>Results:</h3> We 3 to 12 years age; 7 male. Seizure onset was at 6 weeks hemiclonic seizures, bilateral tonic-clonic or spasms. All had impairment nonverbal nonambulatory, required gastrostomy. hyperkinetic disorder occurred in all characterized by dystonia...
Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course severity described for these conditions but the biological environmental factors underlying such sex-specific features remain unclear. We tested burden possible sex-biased effect CNVs sample 10,397 individuals conditions, clinically referred array comparative...
The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression survival. Like other genes encoding members of the CHD family, pathogenic mutations are expected be implicated human disease. In fact, there is emerging evidence suggesting might contribute broad spectrum...
To analyse the results of first 2 years a QF-PCR stand-alone testing strategy for prenatal diagnosis aneuploidy in London region and to determine advantages disadvantages this policy.A review 9737 samples received exclusion chromosome abnormalities. All were subjected common aneuploidies but only fulfilling specific criteria subsequently had full karyotype analysis.Of received, 10.3% abnormality detected by testing. Of 7284 with no indication analysis, 25 (0.3%) normal result an abnormal...
15q11.2 deletions flanked by BP1 and BP2 of the Prader‐Willi/Angelman syndrome region have recently been linked to a range neurodevelopment disorders including intellectual disability, speech language delay, motor autism spectrum disorders, epilepsy, schizophrenia. Array CGH analysis 14,605 patients referred for diagnostic cytogenetic testing found that 83 (0.57%) carried 15q11.2(BP1‐BP2) deletion. Phenotypic frequencies in deleted cohort (n = 83) were compared with non‐deleted 14,522);...
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within region, parental origin these duplications may be key pathogenicity. maternal are disease, whereas pathogenicity paternal ones is unclear. To clarify role duplications, we conducted largest most detailed study date interstitial in DD, ASD SZ cohorts. We...
Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and now recommended as a first line test place of G-banded chromosome analysis. At our centre, testing by oligonucleotide array all referrals imbalance has been since June 2008, using patient vs hybridisation strategy to minimise costs. Out total 13,412 patients tested with CGH, 8,794 (66%) had the test. Referral indications this group ranged from neonatal congenital anomalies through adult...
Discordant growth is a common complication of monochorionic/diamniotic pregnancies; in approximately 50% cases, the cause unknown. The case presented here suggests that discordant monozygotic twins could start during preimplantation development. Two inner cell masses (ICMs) within same blastocyst may originate uneven splitting single "parental" ICM, or two ICMs be formed independently de novo. We studied transcriptomes morphologically distinct using high-resolution RNA sequencing. data...
Multicolour fluorescence in situ hybridisation (FISH) analysis of interphase nuclei cleavage stage human embryos has highlighted a high incidence postzygotic chromosomal mosaicism, including both aneuploid and ploidy mosaicism. Indeed, some appear to have chaotic complement majority nuclei, suggesting that cell cycle checkpoints may not operate early cleavage. Most these studies, however, only analysed limited number chromosomes (3–5), making it difficult distinguish FISH artefacts from true...
The recent development of multiplex ligation-dependent probe amplification (MLPA) has provided an efficient and reliable assay for dosage screening multiple loci in a single reaction. However, drawback to this method is the time-consuming process generating set by cloning single-stranded bacteriophage vectors. We have developed synthetic screen deletions region spanning 18.5 Mb within chromosome 3q. In pilot study, we tested 15 probes on 4 control samples 2 patients previously found possess...