Stephanie Bielas
Biochemistry, Genetics and Molecular Biology · University of Michigan
Publications
76
Citations
3,960
Est. group size
~9
Recurring co-author estimate
Active years
24
Publishing since 2003
Typically publishes in teams of ~11 · 2% small-team papers (≤3 authors) · across 22 venues
- CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6
Cell Death and Disease · 2025
- RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation
Research Square · 2025
- Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Cell Death and Disease · 2024
- TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
Nature Communications · 2024
- RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis
Nature Communications · 2024
- Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Clinical Genetics · 2024
- Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
American Journal of Medical Genetics Part A · 2024
- Biallelic <i>EPB41L3</i> variants underlie a developmental disorder with seizures and myelination defects
Brain · 2024
- RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
Research Square · 2024
- Author response for "Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications"
2024
- De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
European Journal of Human Genetics · 2023
- H2A monoubiquitination: insights from human genetics and animal models
Human Genetics · 2023
- De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Human Genetics and Genomics Advances · 2023
- Further validation of craniosynostosis as a part of phenotypic spectrum of <scp><i>BCL11B</i></scp>‐related <scp>BAFopathy</scp>
American Journal of Medical Genetics Part A · 2023
- Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Research Square · 2023
- Nature Communications×5
- bioRxiv (Cold Spring Harbor Laboratory)×5
- American Journal of Medical Genetics Part A×4
- European Journal of Human Genetics×3
- Clinical Genetics×3
- Erin Conboy
Biochemistry, Genetics and Molecular Biology · Indiana University
- Scott E. Hickey
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Cortlandt Myers
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Mariam Mathew
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Amy Siemon
Biochemistry, Genetics and Molecular Biology · The Ohio State University
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 25, 2026.
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