Ellen J. Hoffman, Ph.D.

Affiliations: 
2014 Yale University, New Haven, CT 
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"Ellen Hoffman"
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Parents

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Matthew W. State grad student 2014 Yale
 (Functional Analysis of Genes Associated with Autism Spectrum Disorders in a Zebrafish Model System.)

Children

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Fatima Abbas post-doc 2016-2017 Yale
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Publications

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Garcia MF, Retallick-Townsley K, Pruitt A, et al. (2024) Dynamic convergence of autism disorder risk genes across neurodevelopment. Biorxiv : the Preprint Server For Biology
DeSpenza T, Singh A, Allington G, et al. (2024) Pathogenic variants in autism gene cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings of the National Academy of Sciences of the United States of America. 121: e2314702121
Fernandez TV, Williams ZP, Kline T, et al. (2023) Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. Plos One. 18: e0291978
Weinschutz Mendes H, Neelakantan U, Liu Y, et al. (2023) High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports. 42: 112243
Enriquez KD, Gupta AR, Hoffman EJ. (2021) Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers in Psychiatry. 12: 716673
DeSpenza T, Carlson M, Panchagnula S, et al. (2021) PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends in Neurosciences
Jin SC, Dong W, Kundishora AJ, et al. (2020) Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine
Cappi C, Oliphant ME, Péter Z, et al. (2019) De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. Biological Psychiatry
Hoffman EJ. (2019) 42.2 WHOLE-BRAIN ACTIVITY MAPPING AND HIGH-THROUGHPUT DRUG SCREENING IN ZEBRAFISH MODELS OF ASD RISK GENES Journal of the American Academy of Child & Adolescent Psychiatry. 58: S363
Hoffman EJ, Cochran D. (2019) RESEARCH SYMPOSIUM: ADVANCES IN THE GENETICS OF NEURODEVELOPMENTAL DISORDERS: TRANSLATING FINDINGS TO THE CLINIC Journal of the American Academy of Child & Adolescent Psychiatry. 58: S315
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