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Maria Chahrour, Ph.D. - Publications

Affiliations: 
Harvard Medical School, Boston, MA, United States 
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33 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Soueid J, Hamze Z, Bedran J, Chahrour M, Boustany RM. A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity. Translational Psychiatry. 13: 404. PMID 38129378 DOI: 10.1038/s41398-023-02702-0  0.412
2023 El Hayek L, DeVries D, Gogate A, Aiken A, Kaur K, Chahrour MH. Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity. Science Advances. 9: eadi0074. PMID 37992166 DOI: 10.1126/sciadv.adi0074  0.352
2023 Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, et al. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. American Journal of Human Genetics. PMID 37924809 DOI: 10.1016/j.ajhg.2023.10.009  0.784
2023 Kissel A, Gebreyohanns M, Chahrour MH. A Brief Survey of Medical Practitioner Knowledge and Attitudes Regarding Autism Spectrum Disorder in Bahir Dar, Ethiopia. African Journal of Health Sciences. 34: 364-373. PMID 37920188  0.308
2023 Tuncay IO, DeVries D, Gogate A, Kaur K, Kumar A, Xing C, Goodspeed K, Seyoum-Tesfa L, Chahrour MH. The genetics of autism spectrum disorder in an East African familial cohort. Cell Genomics. 3: 100322. PMID 37492102 DOI: 10.1016/j.xgen.2023.100322  0.792
2022 Vashisth S, Chahrour MH. Genomic strategies to untangle the etiology of autism: A primer. Autism Research : Official Journal of the International Society For Autism Research. PMID 36415077 DOI: 10.1002/aur.2844  0.803
2022 Tuncay IO, Parmalee NL, Khalil R, Kaur K, Kumar A, Jimale M, Howe JL, Goodspeed K, Evans P, Alzghoul L, Xing C, Scherer SW, Chahrour MH. Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. Npj Genomic Medicine. 7: 13. PMID 35190550 DOI: 10.1038/s41525-022-00284-2  0.805
2021 Vashisth S, Chahrour MH. Insights Into DDX3X Syndrome From a Novel Mouse Model With Construct and Face Validity. Biological Psychiatry. 90: 732-734. PMID 34736554 DOI: 10.1016/j.biopsych.2021.09.010  0.733
2020 El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, ... ... Chahrour MH, et al. mutations identified in autism spectrum disorder using forward genetics. Elife. 9. PMID 33350388 DOI: 10.7554/eLife.56883  0.821
2020 Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Scientific Reports. 10: 14045. PMID 32820185 DOI: 10.1038/S41598-020-70656-0  0.781
2019 Cheon S, Kaur K, Nijem N, Tuncay IO, Kumar P, Dean M, Juusola J, Guillen-Sacoto MJ, Bedoukian E, Ierardi-Curto L, Kaplan P, Schaefer GB, Mishra P, Chahrour MH. The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. Proceedings of the National Academy of Sciences of the United States of America. 116: 3662-3667. PMID 30808755 DOI: 10.1073/pnas.1818751116  0.751
2018 Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, ... Chahrour MH, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30421579 DOI: 10.1002/ajmg.b.32688  0.617
2018 Cheon S, Dean M, Chahrour M. The ubiquitin proteasome pathway in neuropsychiatric disorders. Neurobiology of Learning and Memory. PMID 29398581 DOI: 10.1016/J.Nlm.2018.01.012  0.448
2017 Chahrour M, Kleiman RJ, Manzini MC. Translating genetic and preclinical findings into autism therapies. Dialogues in Clinical Neuroscience. 19: 335-343. PMID 29398929  0.503
2017 Zhu H, Celen C, Chuang JC, Luo X, Nijem N, Walker AK, Chen F, Zhang S, Chung AS, Nguyen LH, Nassour I, Budhipramono A, Sun X, Bok LA, McEntagart M, ... ... Chahrour M, et al. Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Elife. 6. PMID 28695822 DOI: 10.7554/Elife.25730  0.464
2017 Kourtian S, Soueid J, Makhoul NJ, Guisso DR, Chahrour M, Boustany RN. Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. Scientific Reports. 7: 45336. PMID 28358038 DOI: 10.1038/Srep45336  0.567
2017 Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/Ng.3808  0.787
2017 Celen C, Chuang J, Luo X, Nijem N, Walker AK, Chen F, Zhang S, Chung AS, Nguyen LH, Nassour I, Budhipramono A, Sun X, Bok LA, McEntagart M, Gevers EF, ... ... Chahrour M, et al. Author response: Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment Elife. DOI: 10.7554/Elife.25730.030  0.309
2016 Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 11402-11410. PMID 27911742 DOI: 10.1523/Jneurosci.2335-16.2016  0.832
2016 Ataman B, Boulting GL, Harmin DA, Yang MG, Baker-Salisbury M, Yap EL, Malik AN, Mei K, Rubin AA, Spiegel I, Durresi E, Sharma N, Hu LS, Pletikos M, Griffith EC, ... ... Chahrour M, et al. Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 539: 242-247. PMID 27830782 DOI: 10.1038/Nature20111  0.512
2014 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Chahrour MH, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772  0.785
2014 Hu WF, Chahrour MH, Walsh CA. The diverse genetic landscape of neurodevelopmental disorders. Annual Review of Genomics and Human Genetics. 15: 195-213. PMID 25184530 DOI: 10.1146/annurev-genom-090413-025600  0.579
2014 Heckman LD, Chahrour MH, Zoghbi HY. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 3. PMID 24970834 DOI: 10.7554/eLife.02676  0.594
2013 Kim S, Chahrour M, Ben-Shachar S, Lim J. Ube3a/E6AP is involved in a subset of MeCP2 functions. Biochemical and Biophysical Research Communications. 437: 67-73. PMID 23791832 DOI: 10.1016/J.Bbrc.2013.06.036  0.787
2013 Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 77: 259-73. PMID 23352163 DOI: 10.1016/J.Neuron.2012.11.002  0.792
2013 Yu TW, Coulter M, Chahrour M, Walsh CA. Autism Spectrum Disorders Genomic and Personalized Medicine. 2: 1067-1074. DOI: 10.1016/B978-0-12-382227-7.00090-2  0.802
2012 Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. Plos Genetics. 8: e1002635. PMID 22511880 DOI: 10.1371/Journal.Pgen.1002635  0.821
2010 Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 468: 263-9. PMID 21068835 DOI: 10.1038/Nature09582  0.779
2009 Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics. 18: 2431-42. PMID 19369296 DOI: 10.1093/Hmg/Ddp181  0.628
2008 Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). 320: 1224-9. PMID 18511691 DOI: 10.1126/Science.1153252  0.63
2007 Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 56: 422-37. PMID 17988628 DOI: 10.1016/J.Neuron.2007.10.001  0.691
2006 Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Fariñas I, Karsenty G, Grosschedl R. SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. Cell. 125: 971-86. PMID 16751105 DOI: 10.1016/J.Cell.2006.05.012  0.35
2006 Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. Journal of Molecular Medicine (Berlin, Germany). 84: 226-31. PMID 16389551 DOI: 10.1007/s00109-005-0015-3  0.323
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