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Maria Chiara Manzini

Affiliations: 
2013-2019 Pharmacology The George Washington University, Washington, DC, United States 
 2019- Neuroscience Rutgers Robert Wood Johnson Medical School 
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"Maria Manzini"
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Parents

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Carol A. Mason grad student 1998-2006 Columbia
 (Roles of AMPA /KA-type glutamate receptor activation in differentiation and survival during neuronal development.)
Chris A. Walsh post-doc 2006-2013 Harvard Medical School, Beth Israel Deaconess Medical Center

Children

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Dimira Tambunan research assistant 2011-2013 Harvard Medical School
Stefania Di Costanzo research assistant 2012-2014 The George Washington University
Adam Oaks post-doc 2014- The George Washington University
Marta Zamarbide post-doc 2014- The George Washington University
Desiree von Alpen post-doc 2015- The George Washington University

Collaborators

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Publications

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Cauley ES, Pittman A, Mummidivarpu S, et al. (2020) Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. Molecular Genetics & Genomic Medicine. e1387
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, et al. (2020) Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Saredi S, Cauley ES, Ruggieri A, et al. (2020) Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. Muscle & Nerve. 62: 266-271
Manzini MC, Mossa A, Choi S, et al. (2020) Male-Specific Intracellular Signaling in Sex-Bias in Neurodevelopmental Disorders Biological Psychiatry. 87: S65-S66
Mossa A, Manzini MC. (2019) Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders. Journal of Neuroscience Research
Lee S, Chen DY, Zaki MS, et al. (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853
Cauley ES, Hamed A, Mohamed IN, et al. (2019) Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. Neurogenetics. 20: 91-98
Nabais Sá MJ, Jensik PJ, McGee SR, et al. (2019) De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Zamarbide M, Mossa A, Muñoz-Llancao P, et al. (2018) Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Biological Psychiatry
Zamarbide M, Oaks AW, Pond HL, et al. (2018) Loss of the Intellectual Disability and Autism Geneand Its HomologDifferentially Affect Spatial Memory, Anxiety, and Hyperactivity. Frontiers in Genetics. 9: 65
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