Erin Conboy
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
85
Citations
979
Est. group size
~10
Recurring co-author estimate
Active years
29
Publishing since 1998
Erin Conboy studies the genetic causes of rare and undiagnosed diseases, using DNA and genome sequencing to identify the specific gene variants responsible for a patient's condition. Much of this work focuses on neurodevelopmental disorders, metabolic and mitochondrial conditions, and previously undescribed syndromes, often confirming how a given variant disrupts a protein or biological process. The research also touches on the ethics and patient-support aspects of rare disease diagnosis.
Publication activity has grown markedly over the last decade, rising from a handful of papers per year to roughly 13-16 annually in recent years.
Generated by claude-opus-4-8 from public bibliographic data · Jul 9, 2026
Current awards run through July 2028 — about 2 years of funding on record from today. Awards are often renewed, so this is what is currently public, not a forecast.
Indiana Collaborative for Undiagnosed Rare Disease
Matched to public NIH RePORTER and NSF records by name and institution. Awards from other agencies are not shown, and a match is not always found — this list may be incomplete.
Typically publishes in teams of ~7 · 10% small-team papers (≤3 authors) · across 30 venues
- P339: Whole-genome sequencing reveals a novel CACNA1B missense variant in a child with infantile spasms and neurodevelopmental delay
Genetics in Medicine Open · 2026
- P341: KCNA7 as a novel candidate gene in hypokalemic periodic paralysis
Genetics in Medicine Open · 2026
- One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them
Blood · 2025
- DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
The American Journal of Human Genetics · 2025
- HGSNAT - A ‘chip-off-the-old-block’, or a double entendre with an unusual clinical course?
Molecular Genetics and Metabolism · 2025
- What Are Ethical Merits and Drawbacks of Viewing “Medical Mysteries” as Human Subject Research?
The AMA Journal of Ethic · 2025
- DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
UNC Libraries · 2025
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
medRxiv · 2025
- De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome
Brain · 2025
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
EMBO Molecular Medicine · 2025
- Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature
Genetic Testing and Molecular Biomarkers · 2025
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications · 2025
- Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Brain · 2025
- P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome
Genetics in Medicine Open · 2025
- Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases
JMIR Human Factors · 2024
- Genetics in Medicine Open×10
- The American Journal of Human Genetics×4
- Molecular Genetics and Metabolism×4
- Ophthalmic Genetics×3
- Case Reports in Genetics×3
- Matthew Pastore
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Scott E. Hickey
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Amy Siemon
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Mariam Mathew
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Stephanie Bielas
Biochemistry, Genetics and Molecular Biology · University of Michigan
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Sep 1, 2026.
Claim or correct this profile