A5102761403- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- Congenital Anomalies and Fetal Surgery
- Genetic and rare skin diseases.
- Genomics and Rare Diseases
- Congenital Heart Disease Studies
- Chromosomal and Genetic Variations
- Urological Disorders and Treatments
- Cancer and Skin Lesions
- Fetal and Pediatric Neurological Disorders
- Skin and Cellular Biology Research
- Genetics and Neurodevelopmental Disorders
- Congenital Ear and Nasal Anomalies
- Neurogenetic and Muscular Disorders Research
- Cutaneous lymphoproliferative disorders research
- RNA regulation and disease
- Immunodeficiency and Autoimmune Disorders
- Autoimmune Bullous Skin Diseases
- Nail Diseases and Treatments
- Glycosylation and Glycoproteins Research
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
University of Calgary
2016-2025
Alberta Children's Hospital
2011-2024
Alberta Health Services
2020-2024
Walter Reed National Military Medical Center
2023
Clinical Research Consortium
2022
VA Southern Nevada Healthcare System
2021
Medical Genetics Center
2020
Calgary Laboratory Services
2020
Poornima University
2017-2019
The University of Sydney
2018
The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use chromosomal microarray analysis (CMA) prenatal diagnosis. This replaces 2011 Society Obstetricians Gynaecologists Canada (SOGC)-Canadian College Medical Geneticists (CCMG) Joint Technical Update.A multidisciplinary group consisting specialists was assembled review...
In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair movement, leading arthrogryposis multiplex congenita (AMC). Fetal AChR have also been implicated in apparently rare, milder myopathic presentations termed inactivation syndrome (FARIS). The full spectrum associated with fAChR is still poorly understood. Moreover, since some mothers no myasthenic symptoms, condition likely underreported, resulting failure implement effective...
Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate prevalence and time trends gastroschisis among programs in International Clearinghouse for Birth Defects Surveillance Research (ICBDSR), focusing on regional variations maternal age changes population.
Keratosis pilaris (KP) is characterized by keratinous plugs in the follicular orifices and varying degrees of perifollicular erythema. The most accepted theory its pathogenesis proposes defective keratinization epithelium resulting a keratotic infundibular plug. We decided to test this hypothesis doing dermoscopy patients diagnosed clinically as keratosis pilaris.Patients with clinical diagnosis KP seen between September 2011 December were included study. A history was obtained examination...
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it the most common form syndromic clefting may account for ~2% all OFCs. The majority VWS attributed to genetic variants IRF6 (~70%) or GRHL3 (~5%), leaving up 25% individuals with without molecular diagnosis. Both function transcriptional regulatory network governing differentiation periderm, single layer...
To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations LMNA, which encodes nuclear lamin A/C (Mendelian 150330).The objective the study was to carry out mutational analysis LMNA two sisters with a particularly severe FPLD2 phenotype.This descriptive case report molecular studies.The conducted at referral center.We South Asian origin. The first presented acanthosis nigricans age 5 yr, diabetes insulin resistance,...
Evaluate whether fragile X syndrome (FXS) testing should be transitioned to a second-tier test in global developmental delay, intellectual disability, and autism spectrum disorder the absence of family history suggestive clinical features.Determine diagnostic yield FXS performed by Alberta Children's Hospital (ACH) Molecular Diagnostic Laboratory between 2012 2017. Retrospective chart review FXS-positive patients determine presence or features history.Of 2486 pediatric with...
Introduction: Congenital cytomegalovirus (cCMV) is a common congenital viral infection. Testing for cCMV usually begins with assessing maternal CMV serology, specifically IgM and IgG antibodies. A negative suggests low risk of recent infection, thereby suggesting in the fetus. Consequently, often ruled out when negative. Methods: In our perinatal autopsy placental pathology database, we identified 5 cases despite results second trimester. Results: all cases, fetal abnormalities were first...
A 21-year-old man with atopic diathesis presented multiple pin-head-sized erythematous to light brown-colored, non-scaly, keratotic follicular papules, closely clustered over the anterior aspect of thighs [Figure 1] and outer arms for past 6–7 years, associated occasional itching. His sibling had similar lesions. There was no evidence facial/truncal acne, seborrheic dermatitis, or spiny papules knees elbows. Palms, soles, nails, mucosae were unremarkable. differential diagnosis keratosis...
Introduction Van der Woude syndrome (VWS) is an autosomal dominant disorder responsible for 2% of all syndromic orofacial clefts (OFCs), with IRF6 being the primary causal gene (70%). Cases may present lip pits and either cleft lip, palate, or marked phenotypic discordance even among individuals carrying same mutation. This suggests that genetic epigenetic modifiers play additional roles in syndrome's etiology variability expression. We report first DNA methylation profiling two pairs...
Abstract The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or FISH‐detectable microdeletions 17p13.3 region, which carries gene. These have various patterns phenotypic presentations, including Miller–Dieker syndrome (MDS). Approximately 20% these deletions are associated with a derivative chromosome 17 inherited from parent who has balanced reciprocal translocation involving and another chromosome. We report case maternally unbalanced arms 17p 20p. This...
Abstract Background Orofacial clefts (OFCs) include cleft palate (CP), lip (CL), and with (CLP) require multidisciplinary healthcare services. Alberta, Canada has a publicly funded, universal access system. This study determined funded costs for children an OFC compared these to without congenital anomalies. Methods retrospective population‐based cohort analysis used the Alberta Congenital Anomalies Surveillance System identify born between 2002 2018 isolated OFC. They were matched 1:1...
To compare thyroid function tests in preterm neonates (<30 weeks and >48 hour old) exposed to iodine-based contrast with controls ascertain the certainty of peripherally inserted central catheter (PICC) tip position.Infants requiring a PICC were randomised receive 0.3 mL iodine-containing or normal saline. The primary outcome was difference thyroid-stimulating hormone (TSH) levels on day 14 post insertion 28 life.41 infants no significant differences TSH level (mIU/L) at (3.1 vs 2) life (2.2...