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Personal profile

External positions

The Eugene McDermott Center for Human Growth and Development

Fingerprint Dive into the research topics where Maria Chahrour is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Methyl-CpG-Binding Protein 2 Medicine & Life Sciences
Rett Syndrome Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences

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Research Output 2004 2019

  • 4573 Citations
  • 15 h-Index
  • 29 Article
  • 2 Chapter
  • 1 Review article
1 Citation (Scopus)

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Cheon, S., Kaur, K., Nijem, N., Tuncay, I. O., Kumar, P., Dean, M., Juusola, J., Guillen-Sacoto, M. J., Bedoukian, E., Ierardi-Curto, L., Kaplan, P., Bradley Schaefer, G., Mishra, P. & Chahrour, M., Feb 26 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 9, p. 3662-3667 6 p.

Research output: Contribution to journalArticle

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ligases
Ubiquitin
Metabolic Networks and Pathways
Intellectual Disability

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Khalil, R., Kenny, C., Hill, R. S., Mochida, G. H., Nasir, R., Partlow, J. N., Barry, B. J., Al-Saffar, M., Egan, C., Stevens, C. R., Gabriel, S. B., Barkovich, A. J., Ellison, J. W., Al-Gazali, L., Walsh, C. A. & Chahrour, M., Dec 1 2018, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 177, 8, p. 736-745 10 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Intellectual Disability
Exome
Nonsense Codon
Proteasome Endopeptidase Complex
1 Citation (Scopus)

The ubiquitin proteasome pathway in neuropsychiatric disorders

Cheon, S., Dean, M. & Chahrour, M., Jan 1 2018, (Accepted/In press) In : Neurobiology of Learning and Memory.

Research output: Contribution to journalArticle

Proteasome Endopeptidase Complex
Ubiquitin
Brain
Proteins
Therapeutics
11 Citations (Scopus)

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

Celen, C., Chuang, J. C., Luo, X., Nijem, N., Walker, A. K., Chen, F., Zhang, S., Chung, A. S., Nguyen, L. H., Nassour, I., Budhipramono, A., Sun, X., Bok, L. A., McEntagart, M., Gevers, E. F., Birnbaum, S. G., Eisch, A. J., Powell, C. M., Ge, W. P., Santen, G. W. E. & 2 others, Chahrour, M. & Zhu, H., Jul 11 2017, In : eLife. 6, e25730.

Research output: Contribution to journalArticle

Haploinsufficiency
Chromatin Assembly and Disassembly
Growth Hormone
Chromatin
Agenesis of Corpus Callosum

Autism Spectrum Disorder

Saxena, A. & Chahrour, M., Mar 23 2017, Genomic and Precision Medicine: Primary Care: Third Edition. Elsevier Inc., p. 301-316 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genes
Genomics
Merging
Nucleotides
Medical Informatics