A5047803961- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Assisted Reproductive Technology and Twin Pregnancy
- Chromatin Remodeling and Cancer
- 14-3-3 protein interactions
- S100 Proteins and Annexins
- Cancer, Hypoxia, and Metabolism
- Connective tissue disorders research
- Congenital Ear and Nasal Anomalies
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Municipal Solid Waste Management
- Dermatological and Skeletal Disorders
- Sympathectomy and Hyperhidrosis Treatments
- Prenatal Screening and Diagnostics
- Macrophage Migration Inhibitory Factor
- Gestational Trophoblastic Disease Studies
- Aortic Disease and Treatment Approaches
- RNA modifications and cancer
- Growth Hormone and Insulin-like Growth Factors
- RNA regulation and disease
Birmingham Women’s and Children’s NHS Foundation Trust
2024
Sheffield Children's NHS Foundation Trust
2018-2024
Birmingham Women's Hospital
2022
Northern General Hospital
2020
Sheffield Children's Hospital
2020
Okanagan University College
2020
University of British Columbia
2020
Sandwell & West Birmingham Hospitals NHS Trust
2017
Abstract Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization essential membrane proteins, signal transduction, cellular scaffolding. assembled from α β subunits, encoded by SPTA1 SPTAN1 (α) SPTB , SPTBN1 SPTBN2 SPTBN4 SPTBN5 (β). Pathogenic variants in various spectrin genes associated with erythroid cell disorders ( ) neurologic ), but no phenotypes have been definitively or . Through exome sequencing case...
Abstract Developmental and Epileptic encephalopathies (DEE) describe heterogeneous epilepsy syndromes, characterized by early‐onset, refractory seizures developmental delay (DD). Several DEE associated genes have been reported. With increased access to whole exome sequencing (WES), new candidate are being identified although there fewer large cohort papers describing the clinical phenotype in such patients. We 6 unreported individuals provide updated information on an additional previously...
Abstract The CAMTA1 ‐associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, or without intellectual disability. Here, we describe 10 individuals variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift nonsense variants, missense variant of unknown significance. Six were diagnosed following whole exome sequencing exome‐based targeted panel analysis. Most...
Abstract TAB2 is a gene located on chromosome 6q25.1 and plays key role in development of the heart. Existing literature describes congenital heart disease as common recognized phenotype variants, with evidence distinct syndromic also existing beyond this. Here we describe 14 newly identified individuals nine novel, pathogenic variants. The majority were through Deciphering Developmental Disorders study trio whole exome sequencing. Eight had de novo other six found to have maternally...
Abstract Two 1p36 contiguous gene deletion syndromes are known so far: the terminal syndrome and a with critical region located more proximal at 1p36.23‐1p36.22. We present even proximally overlapping deletions from seven individuals, smallest of overlap comprising 1 Mb 1p36.13‐1p36.12 (chr1:19077793‐20081292 (GRCh37/hg19)) defining new syndrome. The characteristic features this learning disability or mild intellectual disability, speech delay, behavioral abnormalities, ptosis. genes UBR4...
We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Individuals in study who had pathogenic/likely pathogenic genotype DECIPHER database were selected inclusion (n = 5010). Clinical notes regional genetics services reviewed assess predefined relating interventions, prenatal choices, and information provision. Outcomes recorded 4237 diagnosed probands (85% of those eligible) all 24 recruiting centers across...
We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as result of maternal isodisomy the X chromosome. Targeted Sanger sequencing and targeted next-generation ARSL were used to test for familial variant. This patient was homozygous NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) variant, consistent diagnosis CDPX1. Uniparental disomy is type chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders recessive in females, be autosomal...
Kanani, Farah; Mordekar, Santosh; Parker, Michael J.; Balasubramanian, Meena; DDD Study Author Information