Sophia Ceulemans
A5000442261- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Cell Adhesion Molecules Research
- Fetal and Pediatric Neurological Disorders
- Signaling Pathways in Disease
- Genomics and Chromatin Dynamics
- Neurological disorders and treatments
- Ubiquitin and proteasome pathways
- Metabolism and Genetic Disorders
- Hypertrophic osteoarthropathy and related conditions
- Genetic and Kidney Cyst Diseases
- Autoimmune Bullous Skin Diseases
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Traumatic Brain Injury Research
- Ion channel regulation and function
- Epilepsy research and treatment
- Diabetes and associated disorders
Rady Children's Hospital-San Diego
2016-2025
University of California, San Diego
2025
Myriad Genetics
2013-2014
While there have been several reports of patients with dominantly acting COL12A1 variants, few cases the more severe recessive Collagen XII-related disorders previously documented. We present detailed clinical, immunocytochemical, and imaging data on eight additional from seven families biallelic pathogenic variants in COL12A1. All presented a consistent constellation congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint...
We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability autism spectrum disorder who carry heterozygous missense variants PRKAR1B gene, which encodes R1β subunit cyclic AMP-dependent protein kinase A (PKA).
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations MAP testing strategy and criteria, it possible that being under-identified both genotypically phenotypically. To determine whether full sequencing of MUTYH would increase clinical sensitivity over a founder mutation (FM) strategy, retrospective analysis two datasets from commercial laboratory was performed. The first cohort...
Objective Herein, we report a case of deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on proband-parents trio, candidate alterations were confirmed using...
Abstract From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism mutation in EBF3 , encoding transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, situ fractionation, RNA-seq ChlP-seq experiments collectively show that the mutations are deleterious impair transcriptional regulation. These findings demonstrate EBF3-mediated dysregulation...
While the heritability of suicidal tendencies is debated, receipt various genetic diagnoses has shown an increased risk ideation and behavior while simultaneously conferring to mental health concerns that may further increase this risk. However, role counselors (GCs) in assessing addressing suicide remains underutilized. A 15-item recruitment survey was distributed via National Society Genetic Counselors Student Research Survey Listserv, interested individuals could opt be contacted for...
We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants the gene (28 ascertained from Matchmaker Exchange and 3 previously reported), 4 with chromosome 7q22.2-22.23 microdeletions encompassing (1 reported). Almost all occurred de novo, most were truncating. Most affected protein-truncating presented mild intellectual disability. One-quarter of met criteria for autism. Additional common features...
Abstract Purpose We characterize the phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder, who carry heterozygous missense-variants PRKAR1B gene. Methods Variants were identified by single-exome or trio-exome analysis. contacted families physicians in order to collect clinical phenotypic information. Results encodes R1β subunit cyclic AMP-dependent protein kinase A (PKA), is predominantly expressed central nervous system. Recent studies patient...
343 Background: MYH-associated polyposis is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MYH. Initial reports indicated that a majority of European individuals carried two founder mutations, Y165C and G382D. A common MYH analysis strategy involves evaluation (FMs) with subsequent full sequencing only if one FMs identified. This study aimed to determine sensitivity over described above cohort has undergone genetic testing commercial...