A5078790439- Genomic variations and chromosomal abnormalities
- Carcinogens and Genotoxicity Assessment
- DNA Repair Mechanisms
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Glutathione Transferases and Polymorphisms
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Gene expression and cancer classification
- Glycosylation and Glycoproteins Research
- Muscle Physiology and Disorders
- Ocular Disorders and Treatments
- Trace Elements in Health
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- Head and Neck Cancer Studies
- Cellular transport and secretion
- Hereditary Neurological Disorders
- Advanced MRI Techniques and Applications
- Plant Genetic and Mutation Studies
- Hearing, Cochlea, Tinnitus, Genetics
British Columbia Children's Hospital
2022
University of British Columbia
2012-2022
B.C. Women's Hospital & Health Centre
2022
Child and Family Research Institute
2012-2015
Children's & Women's Health Centre of British Columbia
2015
University of Alberta
2005-2009
Wroclaw Medical University
2000-2005
University of Wrocław
1997-2000
Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, the major class glycoconjugates expressed by neurons. Deficiencies in catabolic pathways give rise to a large well-studied group inherited disorders, lysosomal storage diseases. Although many glycosphingolipid defects have been defined, only one proven disease arising from defect ganglioside biosynthesis is known. This disease, because first step (GM3 synthase),...
ObjectiveTo inform clinicians of the first known case a live born diagnosed with syndromic partial trisomy 15 and maternal uniparental disomy resulting from mosaic embryo transfer (MET). We believe that this will highlight need for standardized practice guidelines to address potential risk MET importance prenatal follow-up after pregnancy is achieved MET.DesignCase report.SettingIn vitro fertilization preimplantation genetic testing aneuploidy (PGT-A) was completed at fertility clinic in...
The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum neurodevelopmental impairments including developmental delay intellectual disability, epilepsy, autism psychiatric disorders which are all subject to incomplete penetrance variable expressivity. A variety brain MRI abnormalities were reported in patients with rearrangements, but no systematic correlation has been studied among similar anomalies, their clinical phenotypes....
Ring chromosome 14 is a rare cytogenetic disorder. Individuals with r(14) generally have developmental delay and seizures. Other features include hypotonia, microcephaly, mild facial dysmorphism, retinal pigmentation. Most of these are also found in patients linear terminal deletions 14, except for seizures abnormalities. The objective the study was to determine if deletion specific region possible explanation occurrence ring 14. Patients diagnosed either (six patients) or distal 14q (three...
Abstract Osteogenesis imperfecta type VI (OI VI) is a rare autosomal recessive disorder caused by mutations in the SERPINF1 gene that encodes pigment epithelium‐derived factor (PEDF). Cystinosis an lysosomal transport CTNS gene. Both and are located on chromosome 17p13.3. We describe individual presenting with both OI cystinosis. The patient was diagnosed cystinosis at age of 11 months bone biopsy 8 years. He has sustained over 30 fractures during his lifetime, 19 years entered end‐stage...
Patients with terminal deletions of chromosome 14 usually share a number clinical features. The syndrome is thought not to be associated multiple congenital anomalies. We report on patient having deletion about 3.2 Mb, the breakpoint in 14q32.32. Multiple health problems led his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence situ (FISH)), we identified two previously reported patients part almost exactly same size compare phenotypes all...
Chromosomal aberrations (CAs) are important genetic alterations in the development and progression of majority human cancers. The frequency with which such occur depends to a large extent on polymorphisms DNA-repair genes coding for xenobiotic metabolizing enzymes, involved processes activation inactivation xenobiotics. bleomycin (BLM)-induced CAs is an indirect measure effectiveness DNA repair mechanisms, predictor environment-related risk cancer. Our study was conducted peripheral blood...
Analysis of the combined effects polymorphisms in genes encoding xenobiotic metabolizing enzymes (XMEs) and DNA repair proteins may be a key to understanding role these susceptibility individuals mutagens. In present study, we performed an vitro experiment on lymphocytes from 118 healthy donors that measured frequency diepoxybutane (DEB) induced sister chromatid exchanges (SCEs) relation genetic coding for XMEs (CYP1A1, CYP2E1, GSTT1, EPHX, NAT2), as well (XRCC1, XRCC2, XRCC3, XPD, XPA, XPC,...
Abstract Inheritance of two pathogenic Single nucleotide polymorphism microarray and Sanger sequencing were performed. Western blot, rubidium efflux, patch clamp recordings interrogated the expression activity mutant protein. A 16-month-old girl consanguineous descent manifested hypoglycemia. She had dysregulation insulin secretion, with postprandial hyperglycemia followed by Microarray revealed homozygosity for regions encompassing This is first description a homozygous p.R1419H mutation....
Abstract An interstitial deletion in the middle and distal part of chromosome 14 is a rare chromosomal abnormality characterized by wide spectrum phenotypic manifestations. We present patient with nearly 20 Mb 14q24.3q32.13 determined FISH, that associated minor dysmorphic features, developmental delay, absent speech auditory neuropathy. The deleted region contains 130 known genes, among them 48 reported function or association human disease. patient's phenotype compared deletions...
Abstract Microphthalmia, anophthalmia, and coloboma (MAC) are a heterogeneous spectrum of anomalous eye development degeneration with genetic environmental etiologies. Structural copy number variants chromosome 13 have been implicated in MAC; however, the specific loci involved disease pathogenesis not well‐defined. Herein we report newborn syndromic degenerative anophthalmia complex de novo rearrangement 13q. Long‐read genome sequencing improved resolution clinical interpretation...
Abstract Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder characterized by complex dysgenesis of the eyelids and premature ovarian insufficiency. FOXL2 located at 3q22.3, encoding forkhead transcription factor, only gene known to be responsible for BPES. We describe patient diagnosed with BPES atypical failure, normal levels gonadotropins, who was found have trisomy X as well translocation (3;11)(q22.3;q14.1). The breakpoint 3q22.3 upstream...
Prenatal detection of structural variants uncertain significance, including copy number (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification phenotypic severity CNVs are currently assessed by familial segregation, prediction the effect on reading frame, precedent data. Delineation pathogenicity segregation is limited time suitable family members, whereas analytical tools can rapidly delineate potential...