Research articles - autism spectrum disorder

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. (2019) 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., Schaefer, G.B., Mishra, P., Chahrour, M.H. Proceedings of the National Academy of Sciences 116 (9): 3662-3667.

PSMD12 haploinsufficiency in autism spectrum disorder and intellectual disability. (2018) 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.H. American Journal of Medical Genetics 177B (8): 736-745.

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. (2017) 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., Birnbaum, S.G., Eisch, A.J., Powell, C.M., Ge, W-P., Santen, G.W., Chahrour, M., Zhu, H. eLife 6: e25730. 

Candidate genes for inherited autism susceptibility in the Lebanese population. (2017) Kourtian, S., Soueid, J., Makhoul, N.J., Guisso, D.R., Chahrour, M., Boustany, R.N. Scientific Reports 7: 45336.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. (2017) Lu, H-C. *, Tan, Q.*, Rousseaux, M.W.C., Wang, W., Kim, J-Y., Richman, R., Wan, Y-W., Yeh, S-Y., Patel, J.M., Liu, X., Lin, T., Lee, Y., Fryer, J.D., Han, J., Chahrour, M., Finnell, R.H., Lei, Y., Zurita-Jimenez, M.E., Ahimaz, P., Anyane-Yeboa, K., Van Maldergem, L., Lehalle, D., Jean-Marcais, N., Mosca-Boidron, A-L., Thevenon, J., Cousin, M.A., Bro, D.E., Lanpher, B.C., Klee, E.W., Alexander, N., Bainbridge, M.N., Orr, H.T., Sillitoe, R.V., Ljungberg, M.C., Liu, Z., Schaaf, C.P., Zoghbi, H.Y. Nature Genetics 49 (4): 527-536. 

Evolution of Osteocrin as an activity-regulated factor in the primate brain. (2016) Ataman, B.*, Boulting, G.L.*, Harmin, D.A., Yang, M.G., Baker-Salisbury, M., Yap, E., Malik, A.N., Mei, K., Rubin, A.A., Spiegel, I., Durresi, E., Sharma, N., Hu, L.S., Pletikos, M., Griffith, E.C., Partlow, J.N., Stevens, C.R., Adli, M., Chahrour, M., Sestan, N., Walsh, C.A., Berezovskii, V.K., Livingstone, M.S., Greenberg, M.E. Nature 539: 242-247.

MeCP2 and histone deacetylases 1 and 2 in dorsal striatum collectively suppress repetitive behaviors. (2016) Mahgoub, M., Adachi, M., Suzuki, K., Liu, X., Kavalali, E.T., Chahrour, M.H., Monteggia, L.M. Nature Neuroscience doi: 10.1038/nn.4395.

Synaptic, transcriptional and chromatin genes disrupted in autism. (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, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD.  Nature 10.1038/nature13772.

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. (2014) Heckman, L.D., Chahrour, M.H., Zoghbi, H.Y. eLife 3: e02676.

Ube3a/E6AP is involved in a subset of MeCP2 functions. (2013) Kim, S., Chahrour, M., Ben-Shachar, S., Lim, J. Biochemical and Biophysical Research Communications 437(1): 67-73.

Using whole exome sequencing to identify inherited causes of autism. (2013) Yu, T.W.*, Chahrour, M.H.*, Coulter, M.E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Harmin, D.A., Adli, M., Malik, A.N., D’Gama, A., Schmitz-Abe, K., Lim, E., Sanders, S.J., Mochida, G.H., Partlow, J.N., Sunu, C.M., Felie, J.M., Rodriguez, J., Nasir, R.H., Ware, J., Joseph, R.M., Hill, R.S., Kwan, B.Y., Al-Saffar, M., Mukaddes, N.M., Hashmi, A., Balkhy, S., Gascon, G.G., Hisama, F.M., LeClair, E., Poduri, A., Oner, O., Al-Saad, S., Al-Awadi, S.A., Bastaki, L., Ben-Omran, T., Teebi, A., Al-Gazali, L., Eapen, V., Stevens, C.R., Rappaport, L., Gabriel, S.B., Markianos, K., State, M.W., Greenberg, M.E., Taniguchi, H., Braverman, N.E., Morrow, E.M., Walsh, C.A. Neuron 77 (2): 259-273; featured on the cover. (* Co-first authors)

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. (2012) Buxbaum, J.D., Daly, M.J., Devlin, B., Lehner, T., Roeder, K., State, M.W.; Autism Sequencing Consortium* Neuron 76 (6): 1052-1056. (* Member of the Autism Sequencing Consortium)

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012) Chahrour, M.H., Yu, T.W., Lim, E.T., Ataman, B., Coulter, M.E., Hill, R.S., Stevens, C.R., Schubert, C.R., ARRA Autism Sequencing Collaboration, Greenberg, M.E., Gabriel, S.B., Walsh, C.A. PLoS Genetics 8 (4): e1002635. doi:10.1371/journal.pgen.1002635

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. (2010) Chao, H.T., Chen, H., Samaco, R.C., Xue, M., Chahrour, M., Yoo, J., Neul, J.L., Gong, S., Lu, H.C., Heintz, N., Ekker, M., Rubenstein, J.L., Noebels, J.L., Rosenmund, C., Zoghbi, H.Y. Nature 468 (7321): 263-269.

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. (2009) Ben-Shachar, S.*, Chahrour, M.*, Thaller, C., Shaw, C.A., Zoghbi, H.Y. Human Molecular Genetics 18 (13): 2431-2442. (* Co-first authors)

MeCP2, a key contributor to neurological disease, activates and represses transcription. (2008) Chahrour, M., Jung, S.Y., Shaw, C., Zhou, X., Wong, S.T.C., Qin, J., Zoghbi, H.Y. Science 320 (5880): 1224- 1229.

Review articles and book chapters

The ubiquitin proteasome pathway in neuropsychiatric disorders. (2018) Cheon, S., Dean, M., Chahrour, M. Neurobiology of Learning and Memory S1074-7427(18)30012-1. Invited Review for the special issue “Behavioral Analyses of Animal Models of Intellectual and Developmental Disabilities”.

Translating genetic and preclinical findings into autism therapies. (2017) Chahrour, M., Kleiman, R.J., Manzini, M.C. Dialogues in Clinical Neuroscience 19 (4): 335-343. Invited review.

Autism spectrum disorder. In: G.S. Ginsburg, H.F. Willard, S.P. David (Eds.), Genomic and precision medicine: primary care, 3rd Edition (2017) Saxena, A., Chahrour, M.H. Elsevier, pp.

Current perspectives in autism spectrum disorder: from genes to therapy. (2016) Chahrour, M.H.*, O’Roak, B.J., Santini, E., Samaco, R.C., Kleiman, R., Manzini, M.C.* The Journal of Neuroscience 36 (45): 11402–11410.

The diverse genetic landscape of neurodevelopmental disorders. (2014) Hu, W.F., Chahrour, M.H., Walsh, C.A. Annual Review of Genomics and Human Genetics 15: 195-213.

Autism spectrum disorders. In: Genomic and personalized medicine, volume 2, 2nd edition, Oxford: (2012) Yu, T.W., Coulter, M.E., Chahrour, M.H., Walsh, C.A. Academic Press, pp. 1067-1074.

The story of Rett syndrome: from clinic to neurobiology. (2007) Chahrour, M., Zoghbi, H.Y. Neuron 56 (3): 422-437.

Research articles - other genetic disorders

Variability of ponto-cerebellar fibers by diffusion tensor imaging in diverse brain malformations. (2016) Rollins, N.K., Booth, T.N., Chahrour, M.H. Journal of Child Neurology Dec 5 pii: 0883073816680734.

Familial Keratoconus in an Ecuadorian population. (2007) Bejjani, B.A., Winters, D., Molinari, A., Chahrour, M.H., Bailey, K.A., Rydzanicz, M.A., Leal, S.M., Lewis, R.A., Gajecka, M.M. Investigative Ophthalmology and Visual Science 48: E-Abstract 1330.

Nuclear matrix protein SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. (2006) Dobreva, G., Chahrour, M., Dautzenberg, M., Chirivella, L., Kanzler, B., Farinas, I., Karsenty, G., Grosschedl, R. Cell 125 (5): 971-986.

Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. (2006) Santos, R.L., El-Shanti, H., Sikandar, S., Lee, K., Bhatti, A., Yan, K., Chahrour, M.H., McArthur, N., Pham, T.L., Mahasneh, A.A., Ahmad, W., Leal, S.M. Journal of Molecular Medicine 84 (3): 226-231.

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. (2006) Hassan, M.J., Santos, R.L., Rafiq, M.A., Chahrour, M.H., Pham, T.L., Wajid, M., Hijab, N., Wambangco, M., Lee, K., Ansar, M., Yan, K., Ahmad, W., Leal, S.M. Human Genetics 118 (5): 605-610.

Novel sequence variants in the TMC1 genes in Pakistani families with autosomal recessive hearing impairment. (2005) Santos, R.L., Wajid, M., Khan, M.N., McArthur, N., Pham, T.L., Bhatti, A., Lee, K., Irshad, S., Mir, A., Yan, K., Chahrour, M.H., Ansar, M., Ahmad, W., Leal, S.M. Human Mutation 26 (4): 396.

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. (2005) Aslam, M., Wajid, M., Chahrour, M., Ansar, M., Haque, S., Pham, T., Yan, K., Ahmad, W., Leal, S.M. American Journal of Medical Genetics 133A (1): 18-22.

Mapping of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB46) to chromosome 18p11.32-p11.31. (2005) Mir, A., Ansar, M., Chahrour, M., Pham, T., Wajid, M., Haque, S., Yan, K., Ahmad, W., Leal, S. American Journal of Medical Genetics 133A (1): 23-26.

Linkage studies in an Ecuadorian population with keratoconus exclude known loci. (2005) Gajecka, M., Winters, D.L., Molinari, A., Pitarque, J.A., Chahrour, M.H., Leal, S.M., Lewis, R.A., Bejjani, B.A. Investigative Ophthalmology and Visual Science 46: E-Abstract 4956.

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.2. (2004) Aslam, M., Chahrour, M.H., Razzaq, A., Haque, S., Yan, K., Leal, S., Ahmad, W. Journal of Medical Genetics 41 (11): 849-852.

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q2.1-17q25.3. (2004) Rafiq, M.A., Ansar, M., Pham, T.L., Amin-ud-Din, M., Anwar, M., Haque, S., Chahrour, M.H., Yan, K., Leal, S.M., Ahmad, W. Clinical Genetics 66 (1): 73-78.

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. (2004) Ansar, M., Chahrour, M.H., Amin-ud-Din, M., Arshad, M., Haque, S., Pham, T.L., Yan, K., Ahmad, W., Leal, S.M. Human Heredity 57 (4): 195-199.