Jennifer Burton, MS, CGC
Senior Genetic Counselor
Department of Pediatrics
Pronouns: she/her/hers
Contact
Office Phone:
Fax:
Email:
Selected Publications
- Rodriguez KM, et al. Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023. Pediatr Crit Care Med. 2024 Aug 1;25(8):699-709. Epub 2024 Apr 26.
- Ahmad, N, et al. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children, Pediatric Neurology, Volume 148, 2023, Pages 164-171
- Burton, B, et al. Newborn screening for mucopolysaccharidosis type II: Lessons learned. Molecular Genetics and Metabolism, 2023
- AlAbdi L, et al. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 Apr 19;146(4):1373-1387.
- Dworschak GC, et al. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 Sep;23(9):1715-1725. Epub 2021 May 30.
- Rabin, R, et al. Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet. 2020;18A:2037-2048
- Chilton, I, et al. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet. 2020;1-12.
- Ng, B, et al. SLC35A2-CDG: Functional characterization, expanded molecular, clinical and biochemical phenotypes of 30 unreported individuals. Human Mutation. 2019;1-18
- Powis, Z, et al. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Clin Genet. 2018 May;93(5):1030-1038
- Helgenson, M, et al. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar;63(3):349-356
Publication Aggregators
Professional Leadership
Illinois Perinatal Advisory Committee, Illinois Department of Public Health
Illinois Universal Newborn Screening Advisory Committee, Illinois Department of Public Health
Education
- Graduate School: Wayne State University (Detroit, MI): Master of Science Genetic Counseling
- Undergraduate School: University of Illinois (Urbana-Champaign, IL): Bachelor of Science Biology
Licensures and Certifications
- Licensure - Genetic Counselor (IL)
- Certification - American Board of Genetic Counselors
Professional Memberships
- National Society of Genetic Counselors
- Illinois Society of Genetic Professionals