Elizabeth A. Burke

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index2.6kcitations105works5.62yr avg
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Research Topics

Genomics and Rare Diseases(24), Genetics and Neurodevelopmental Disorders(17), Genomic variations and chromosomal abnormalities(9), RNA regulation and disease(8), RNA Research and Splicing(7)

Publications89 total

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Genome Medicine·2025· 5 citedOpen Access
Measuring Data Quality for Project Lighthouse
arXiv (Cornell University)·2025Open Access
Polygenic risk score for type 2 diabetes shows context-dependent effects across populations
Nature Communications·2025· 2 citedOpen Access
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications·2025· 2 citedOpen Access
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
BioData Mining·2025· 1 citedOpen Access
FF001/#960  Near-infrared fluorescence assessment of myocutaneous flap microperfusion for gynecologic reconstruction: final analysis of a prospective non-randomized surgical trial
2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine·2024· 32 citedOpen Access
Disability resulting from Delayed treatment after a Copperhead snake bite to the hand
Archives of Physical Medicine and Rehabilitation·2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Human Genetics·2024· 6 citedOpen Access
De novo variants in DENND5B cause a neurodevelopmental disorder
The American Journal of Human Genetics·2024· 8 citedOpen Access
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
BMC Genomics·2024Open Access
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics·2024· 14 citedOpen Access
#202 Near-infrared fluorescence assessment of myocutnaeous flap microperfusion for gynecologic reconstruction (FOREFRONT): a prospective, non-randomized trial (NCT05071976)
2023Open Access
Macrocephaly and developmental delay caused by missense variants in RAB5C
Human Molecular Genetics·2023· 4 citedOpen Access
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
The American Journal of Human Genetics·2023· 5 citedOpen Access
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
The Journal of Pediatrics·2023· 6 citedOpen Access
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Genetics in Medicine·2023· 7 citedOpen Access
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
The American Journal of Human Genetics·2023· 33 citedOpen Access
Participation in a national diagnostic research study: assessing the patient experience
Orphanet Journal of Rare Diseases·2023· 5 citedOpen Access
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Genetics in Medicine·2023· 5 citedOpen Access
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Frequent Co-authors

Carlos A. Bacino(36), Lindsay C. Burrage(36), Lauren C. Briere(34), Alan H. Beggs(33), Anna Bican(33), Gary Clark(33), Joy D. Cogan(33), Ashok Balasubramanyam(32), William J. Craigen(32), Heidi Cope(32), Devon Bonner(31), Hugo J. Bellen(30), David R. Adams(28), Jonathan A. Bernstein(28), Cynthia M. Cooper(28), Esteban C. Dell’Angelica(28), Lisa Emrick(28), Terra R. Coakley(28), Jyoti G. Dayal(27), Mahshid S. Azamian(26)