Erin Conboy
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
87
Citations
947
Est. group size
~10
Recurring co-author estimate
Active years
29
Publishing since 1998
- 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
- Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Brain · 2025
- One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them
Blood · 2025
- <i>De novo</i> and inherited variants in <i>DDX39B</i> cause a novel neurodevelopmental syndrome
Brain · 2025
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
EMBO Molecular Medicine · 2025
- DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
The American Journal of Human Genetics · 2025
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications · 2025
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
medRxiv · 2025
- HGSNAT - A ‘chip-off-the-old-block’, or a double entendre with an unusual clinical course?
Molecular Genetics and Metabolism · 2025
- P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome
Genetics in Medicine Open · 2025
- Uncovering a Diagnosis Through Reanalysis of <i>UBA2</i> 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
- 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
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Nature Communications · 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
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 9, 2026.
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