Kimberly Wiltrout
A5056840743- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Congenital heart defects research
- Metabolism and Genetic Disorders
- BRCA gene mutations in cancer
- Metalloenzymes and iron-sulfur proteins
- Sexual Differentiation and Disorders
- Neurological disorders and treatments
- Nutrition, Genetics, and Disease
- Diet and metabolism studies
- Adrenal and Paraganglionic Tumors
- Autism Spectrum Disorder Research
- Lysosomal Storage Disorders Research
- Lipid metabolism and disorders
Boston Children's Hospital
2023-2024
Harvard University
2023-2024
Washington University in St. Louis
2019
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, counseling. Objective To delineate the genetic landscape pediatric utility for with epilepsy. Design, Setting, Participants This cohort study used phenotypic data from medical records treating clinicians at a hospital identify unexplained pediatric-onset Exome sequencing was performed 522 available biological parents, were...
Abstract Objective To delineate the comprehensive phenotypic spectrum of SYNGAP1 ‐related disorder in a large patient cohort aggregated through digital registry. Methods We obtained de‐identified data from an online Data were extracted uploaded medical records. reclassified all variants using American College Medical Genetics criteria and included patients with pathogenic/likely pathogenic (P/LP) single nucleotide or microdeletions incorporating . analyzed neurodevelopmental phenotypes,...
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear. We identified reports published from 2017 2021 10 genetics journals Mendelian disorders. adjudicated the quality detail via 46 questions pertaining six priority domains: (I) Development, cognition, mental health;...
Children with developmental and epileptic encephalopathies often present co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy variety of movement disorders ranging from focal hand dystonia to generalized frequent status dystonicus. In this report, we three patients severe as part ARX-associated epilepsy-dyskinesia syndrome, including patient novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic management...
A significant proportion of neonates and infants who present with epilepsy have been found to an underlying genetic etiology. Genetic diagnoses can provide critical information for clinical management ameliorate health outcomes. In anticipation the growing availability rapid testing, we aimed determine feasibility, diagnostic yield utility genome sequencing in infants.
Polymicrogyria (PMG) is one of the more common malformations human cortical development and often classified by its radiographic pattern distribution. Unilateral polymicrogyria a subtype affecting only portion or all hemisphere. Most currently known genetic etiologies PMG result in bilateral distribution but rarely do they explain unilateral PMG. While overall diagnostic yield testing for 20-30%, has never been assessed independently to determine this unique population.
Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear.
ABSTRACT Background Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment novel conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians families is unclear. Methods We identified reports published from 2017-2021 ten genetics journals Mendelian disorders ascertained genotype-first. adjudicated the quality detail via 46 questions pertaining six priority...