Maria Chahrour, Ph.D. - Publications

Affiliations: 
Harvard Medical School, Boston, MA, United States 

25 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
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  0.56
2017 Chahrour M, Kleiman RJ, Manzini MC. Translating genetic and preclinical findings into autism therapies. Dialogues in Clinical Neuroscience. 19: 335-343. PMID 29398929  0.48
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  1
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  0.48
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  0.56
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2006 Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Human Genetics. 118: 605-10. PMID 16261342 DOI: 10.1007/s00439-005-0079-8  1
2005 Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Human Mutation. 26: 396. PMID 16134132 DOI: 10.1002/humu.9374  1
2005 Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. American Journal of Medical Genetics. Part A. 133: 18-22. PMID 15641023 DOI: 10.1002/ajmg.a.30508  1
2005 Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. American Journal of Medical Genetics. Part A. 133: 23-6. PMID 15637723 DOI: 10.1002/ajmg.a.30516  1
2004 Ansar M, Chahrour MH, Amin Ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM. DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Human Heredity. 57: 195-9. PMID 15583425 DOI: 10.1159/000081446  1
2004 Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM, Ahmad W. A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. Journal of Medical Genetics. 41: 849-52. PMID 15520410 DOI: 10.1136/jmg.2004.019729  1
2004 Rafiq MA, Ansar M, Pham T, Amin-ud-Din M, Anwar M, Haque S, Chahrour MH, Yan K, Leal SM, Ahmad W. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. Clinical Genetics. 66: 73-8. PMID 15200512 DOI: 10.1111/j.0009-9163.2004.00273.x  1
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