Maria Chahrour, Ph.D.

Dr. Chahrour received her undergraduate degree in Biology from the American University of Beirut prior to attending the University of North Texas for a masters degree in Forensic Genetics. She obtained her Ph.D. in Molecular and Human Genetics from Baylor College of Medicine where she studied molecular mechanisms underlying Rett syndrome.

She joined Harvard Medical school and Boston Children's Hospital as a postdoctoral fellow and later as an instructor in the Division of Genetics and Genomics, where she focused on identifying genetic causes of autism spectrum disorder.

Dr. Chahrour joined the faculty at the McDermott Center for Human Genetics and the departments of Neuroscience and Psychiatry in 2015.

• Autism spectrum disorder
• Chromatin remodeling
• Genetics of neurodevelopmental disorders
• Genomics and neurogenetics
• Ubiquitin proteasome pathway

Featured Publications

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

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, NPJ Genom Med 2022 Feb 7 1 13

KDM5A mutations identified in autism spectrum disorder using forward genetics.

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, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ, Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH, Elife 2020 12 9

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

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 Proc. Natl. Acad. Sci. U.S.A. 2019 Feb 116 9 3662-3667

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.

Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC J. Neurosci. 2016 Nov 36 45 11402-11410

Using whole-exome sequencing to identify inherited causes of autism

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, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA Neuron 2013 77 2 259-273

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR; ARRA Autism Sequencing Collaboration, Greenberg ME, Gabriel SB, Walsh CA PLoS Genetics 2012 8 4 e1002635

MeCP2, a key contributor to neurological disease, activates and represses transcription

Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY Science 2008 320 5880 1224-1229

The story of Rett syndrome: from clinic to neurobiology

Chahrour M, Zoghbi HY Neuron 2007 56 3 422-437

Tailored community engagement to address the genetics diversity gap.

Hanchard NA, Chahrour M, de Vries J, Med (N Y) 2022 Jun 3 6 369-370

Insights Into DDX3X Syndrome From a Novel Mouse Model With Construct and Face Validity.

Vashisth S, Chahrour MH, Biol Psychiatry 2021 12 90 11 732-734

 Featured Books

Autism spectrum disorders. In Genomic and personalized medicine

Yu TW, Coulter ME, Chahrour MH, Walsh CA (2012). Oxford, Academic Press

• International Society for Autism Research (2015)
• International Rett Syndrome Foundation (2006-2009)
• Society for Neuroscience (2006)
• American Society of Human Genetics (2004)
• Sigma Xi, The Scientific Research Society (2004)
• American Academy of Forensic Sciences (2001-2004)
• Association of Forensic DNA Analysts and Administrators (2001-2003)