A5013398346- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- CRISPR and Genetic Engineering
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Nuclear Structure and Function
- Attention Deficit Hyperactivity Disorder
- Chronic Disease Management Strategies
- Family and Disability Support Research
- Cardiovascular Effects of Exercise
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Child and Adolescent Psychosocial and Emotional Development
- Congenital heart defects research
- Patient-Provider Communication in Healthcare
- Prenatal Screening and Diagnostics
Kennedy Krieger Institute
2025
Autism & Developmental Medicine Institute
2021-2023
National Human Genome Research Institute
2018
National Institutes of Health
2018
A critical bottleneck in clinical genomics is the mismatch between large volumes of results and availability knowledgeable professionals to return them.To test whether a web-based platform noninferior genetic counselor for educating patients about their carrier from exome sequencing.A randomized noninferiority trial conducted longitudinal sequencing cohort at National Institutes Health February 5, 2014, December 16, 2016, was used compare with counselor. Among 571 eligible participants, 1 7...
CDO1 encodes a non-heme iron dioxygenase, which is involved in cysteine metabolism. While has been proposed to be multiple physiological processes, an association with congenital disease yet well defined. This study presents detailed clinical and molecular information on three individuals overlapping neurological features. All were found have rare, conserved, de novo variants clustered conserved region of the gene no alternative genetic etiology identified. Features present all included EEG...
Abstract Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand mechanism and improve therapeutic decision-making. We aggregated genetic clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) functional for 184 (14.1% lp/p). Clinical were available subset of 126 individuals. explored potential variant positions...
Introduction SLC6A1 is one of the most common monogenic causes epilepsy and a well-established cause neurodevelopmental disorders. -neurodevelopmental disorders have consistent phenotype mild to severe intellectual disability (ID), epilepsy, language delay behavioral This phenotypic description mainly based on knowledge from pediatric population. Method Here, we sought describe patients with variants age above 18 years through ascertainment published unpublished patients. Unpublished were...
This study examined the impact of disclosing subclassifications genetic variants uncertain significance (VUS) on behavioral intentions. We studied return VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), severity, value information, self-efficacy, decision regret, intentions share change behaviors. There was no significant difference between 2 subclasses in overall (t =...
Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults' immediate responses receiving NPD-related results inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number (CNVs) were identified from research exome data, clinically confirmed, disclosed adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by...
Abstract While many patients with disabilities or chronic illnesses are served by genetic counselors, little effort has been made to promote the inclusion of individuals and as professionals in counseling field. Genetic counselors have reported insufficient support from their colleagues throughout all stages professional journeys, but there is a lack research exploring these challenges. To gain an understanding experiences this community during graduate training, we conducted semi‐structured...
Abstract DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes BRCA1-interacting nuclear regulating transcription, R-loops, homologous recombination exhibits the highest mutational constraint all DDX/DHX paralogs but remains without disease trait associations. Using exome sequencing family-based rare variant analysis, we identified...