Terry Jo Bichell

Brentwood Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index1.0kcitations43works0.92yr avg
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Research Topics

Genetic Syndromes and Imprinting(14), Genetic Neurodegenerative Diseases(11), Genetics and Neurodevelopmental Disorders(11), Epigenetics and DNA Methylation(8), Mitochondrial Function and Pathology(7)

Publications42 total

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers
Journal of Child Psychology and Psychiatry·2025Open Access
ZTTK-iPSC: A Framework for the rapid generation of patient-specific rare disease cell models
Cytotherapy·2025
Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome
Sage Open Pediatrics·2025Open Access
Enhancing Rare Disease Education through AI-Driven Podcast Generation
2025· 3 citedOpen Access
P185: Project FIND-OUT: Outpatient genome sequencing in expanded pool of symptomatic infants at risk for genetic neurodevelopmental disorders provides earlier diagnoses
Genetics in Medicine Open·2025Open Access
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)
American Journal of Medical Genetics Part A·2024· 2 citedOpen Access
Listening to patients: Incidence and distribution of sleep disorders in Prader-Willi syndrome
Sleep Epidemiology·2024Open Access
Koolen-de Vries Syndrome: a journey from diagnosis to treatments
Therapeutic Advances in Rare Disease·2024Open Access
The MED13L Foundation strategic research plan: a roadmap to the future
Therapeutic Advances in Rare Disease·2024· 3 citedOpen Access
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Journal of Neurodevelopmental Disorders·2023· 23 citedOpen Access
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder
Frontiers in Neuroscience·2023· 10 citedOpen Access
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Research Square (Research Square)·2023· 5 citedOpen Access
A draft conceptual model of SLC6A1 neurodevelopmental disorder
Frontiers in Neuroscience·2023· 13 citedOpen Access
A disease concept model for <i>STXBP1</i> ‐related disorders
Epilepsia Open·2023· 24 citedOpen Access
P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design
Genetics in Medicine Open·2023Open Access
Treatment with THI, an inhibitor of sphingosine-1-phosphate lyase, modulates glycosphingolipid metabolism and results therapeutically effective in experimental models of Huntington’s disease
Molecular Therapy·2022· 16 citedOpen Access
A disease concept model for <i>STXBP1</i> -related disorders
2022· 1 citedOpen Access
Underrecognized Sleep Disorders Across Rare Diseases: Real-world Insights From a Patient and Caregiver Summit
Research Square (Research Square)·2021· 1 citedOpen Access
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model
Child Psychiatry & Human Development·2020· 75 citedOpen Access
Huntington’s disease genotype suppresses global manganese-responsive processes in pre-manifest and manifest YAC128 mice
Metallomics·2020· 24 citedOpen Access
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Frequent Co-authors

Aaron B. Bowman(14), Lynne M. Bird(8), Anna C. Pfalzer(7), Carlos A. Bacino(6), Wen‐Hann Tan(5), Sarika U. Peters(5), Kyle J. Horning(5), Michael Aschner(5), Susan E. Waisbren(4), Emma Bradley(4), Michael A. Uhouse(4), Timothy Halbesma(4), Kimberly Goodspeed(4), Rene Barbieri‐Welge(3), Arthur L. Beaudet(3), Irina Anselm(3), Michelle L. Krishnan(3), Meghan T. Miller(3), K. Grace Tipps(3), Andrew M. Tidball(3)