Randi J Hagerman, MD; FAAP

Professor

  • 26865 Citations
  • 91 h-Index
1976 …2019
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  • 9 Similar Profiles
Fragile X Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Mutation Medicine & Life Sciences
Fragile X Mental Retardation Protein Medicine & Life Sciences
Tremor Medicine & Life Sciences
Genes Medicine & Life Sciences
Alleles Medicine & Life Sciences

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Projects 1976 2018

MIND Institute Intellectual and Developmental Disabilities Research Center

Hertz-Picciotto, I., Hagerman, R. J., Simon, T., van De Water, J. A., Crawley, J., Ozonoff, S., Abbeduto, L. J., Abbeduto, L. J., Crawley, J., Ozonoff, S. J., Van de Water, J. A. & Simon, T. J.

National Institutes of Health

9/24/136/30/18

Project: Research project

Developmental Disabilities
Fragile X Syndrome
Intellectual Disability
Research Personnel
Rodentia
Lithium
Neuroprotective Agents
Outcome Assessment (Health Care)
Memantine
Lithium Carbonate
Genotype
Phenotype
Psychiatry
Autistic Disorder
Fragile X Syndrome

Research Output 1983 2019

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale

Hall, D. A., Stebbins, G. T., Jacquemont, S., Berry-Kravis, E., Goetz, C. G., Hagerman, R. J., Zhang, L. & Leehey, M. A., Jan 1 2019, (Accepted/In press) In : Movement Disorders Clinical Practice.

Research output: Contribution to journalArticle

Movement Disorders
Reproducibility of Results
Statistical Factor Analysis
Outcome Assessment (Health Care)
Clinical Trials

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases

Protic, D., Aydin, E. Y., Tassone, F., Tan, M. M., Hagerman, R. J. & Schneider, A., Jul 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00745.

Research output: Contribution to journalArticle

Open Access
Fragile X Syndrome
Metformin
Biguanides
Feeding Behavior
Autistic Disorder
1 Citation (Scopus)

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

Ma, L., Herren, A. W., Espinal, G., Randol, J., McLaughlin, B., Martinez-Cerdeno, V., Pessah, I. N., Hagerman, R. J. & Hagerman, P. J., Sep 3 2019, In : Acta neuropathologica communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Intranuclear Inclusion Bodies
Peptides
Small Ubiquitin-Related Modifier Proteins
Flow Cytometry
Proteins
1 Citation (Scopus)

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India

Sachdeva, A., Jain, P., Gunasekaran, V., Mahay, S. B., Mukherjee, S., Hagerman, R. J., Shankar, S., Kapoor, S. & Kedia, S. N., Mar 1 2019, In : Indian Pediatrics. 56, 3, p. 221-228 8 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
India
Consensus
Pediatrics
Guidelines

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J. M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Language Development Disorders
Phenotype
Inheritance Patterns
Microcephaly
Pain Threshold