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Research Update at AUBMC - May 2020

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  • Research Update at AUBMC - May 2020
    Khalifeh Simone, Yassin Walid, Kourtian Silva, Boustany  Rose-Mary, “ Autism in Review” serial no.2014/56, N° 64-2 (2016): pp 110-115 Lebanese Medical Journal
    J Makoukji, M Raad, K Genadry, S El-Sitt, N J. Makhoul, E S Aldin, E Nohra, M Jabbour, A Sangaralingam, C Chelala, R H. Habib, F Boulos, A Tfayli, R-M Boustany. Association between CLN3 (neuronal ceroid lipofuscinosis, CLN3 type) gene expression & clinical characteristics of breast cancer patients. Front. Oncol., 12 October 2015 http://dx.doi.org/10.3389/fonc.2015.00215 S Roosing, S Kim, M Hofree, E Scott, B Copeland, M Romani, J L. Silhavy , R O. Rosti, J Schroth, T Mazza, E Miccinilli, M S. Zaki, K J. Swoboda, J Milisa-Drautz, WB. Dobyns, M Mikati, F İncecik, M Azam, R Borgatti, R Romaniello, R-M Boustany, C L. Clericuzio, S D’Arrigo, I Moroni, E Bertini, F Emma, M Steinlin, F Hildebrandt, C A. Johnson, M Freilinger, K K. Vaux, S B. Gabriel, P Aza-Blac, S Heynen-Genel, T Ideker, B D. Dynlacht, JE Lee, E Maria Valente, J Kim, Joseph G. Gleeson. A functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.  (eLife Sciences 2015 May 30;4:e06602. doi: 10.7554/eLife.06602).
    Monique Chaaya Dr.PH, Dahlia Saab MPH, Fadi Maalouf MD and Rose-Mary Boustany MD.  Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: a cross sectional Study (2016).  JADD.  DOI 10.1007/s10803-015-2590-7.
    Jihane Soueid, Silva Kourtian1, Nadine J. Makhoul, Joelle Makoukji, Sariah Haddad, Simona S. Ghanem1, Firas Kobeissy & Rose-Mary Boustany. . RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism Scientific Reports 6, Article number: 19088 (2016) doi: 10.1038/srep19088
    J Makoukji, N J. Makhoul, M Khalil, S El-Sitt, E Saad Aldin, M Jabbour, F Boulos, E Gadaleta, A Sangaralingam, C Chelala, R-M Boustany, A Tfayli. Gene expression profiling of breast cancer in Lebanese women. Scientific Reports 6, Article number: 36639 (2016)
    Silva Kourtian, Jihane Soueid, Nadine J. Makhoul, Dikran Richard Guisso, Maria Chahrour, and Rose-Mary N. Boustany. Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.   Scient Rep. 2017; 7: 45336, 2017 doi:  10.1038/srep45336
    Farah J. Nassar, Rabih Talhouk,  Nathalie K. Zgheib, Arafat Tfayli, Maya El Sabban, Nagi S. El Saghir, Fouad Boulos, Mark N. Jabbour, Claude Chalala, Rose-Mary Boustany, Humam Kaddara, Zhou Zhang, Yinan Zheng, Brian Joyce, Lifang Hou, Ali Bazarbachi, George Calin, Rihab Nasr. Micro RNA Expression in Ethnic Specific Early Stage Breast Cancer: A Comparative & Integration Analysis.  (2017) Scientific Reports. Scient Rep. 2017; 7: 45336, 2017 doi:  10.1038/srep45336in
    N Kinarivala, R Patel, R-M Boustany, Abraham Al-Ahmad and Paul C. Trippier. Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein Bcl-2. 2017. Journal of Medicinal Chemistry. 2017 60 (23), 9739-9756.
    Ghazale H, Ramadan N, Mantash S, Zibara K, El-Sitt S Darwish H, Chamaa F, Boustany R-M, Mondello S, Abou-Kheir W, Soueid J, Kobeissi F. Docosahexanoic acid enhances the therapeutic potential of neonatal neural stem cells transplantation post-traumatic brain injury 2017. Behavioral Brain Research. Behav Brain Res. 2018 Mar 15;340:1-13.
    Dahlia Saab, Monique Chaaya, Rose-Mary Boustany.  Prevalence & correlates of Autism Spectrum Disorder: Lebanese cross-sectional study. Autism Open Access 2018, 8:1 DOI: 10.4172/2165-7890.1000223. 
    Dikran Richard Guisso, Fadi S. Saadeh, Dahlia Saab, Joud El Deek, Sarah Chamseddine, Hadi Abou El Hassan, Ghidaa Majari, Rose-Mary Boustany. Association of autism with maternal infections, perinatal & other risk factors: a case-control study. JADD  January 2018 doi.org/10.1007/s10803-017-3449-x
    Fadi Saadeh,  Joelle Makoukji, Karl Albert Mansour,  Sally El Sitt, Jamal Al Ali,  Nihar Kinarivala,   Paul Trippier,  Rose-Mary Boustany.  Flupirtine Derivatives as Potential Treatment for the Neuronal Ceroid Lipofuscinoses. Annals of Clinical and Translational Neurology 2018. Pp: 1089-1103 (DOI) - 10.1002/acn3.625
    Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N. James, Ahmet Okay Caglayan, Mariam Najafi, Valentina Stanley, Rose-Mary N. Boustany, Gӧzde Yesil, Afsani  Sahebalzamani, Gulhan Ercicek Sencan, Kolsum Saeidi, Kaman Wu, Peter Bauer, Bakey Zeineb, Joseph Gleason, Nathalie Hauser, Murat Gunel, Hulya Kaysrili, Miriam Schmidts.  Biallelic MAB21L1 loss of function variants cause a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial & genital features (COFG syndrome), J Med Genet. 2018 Nov 28. 2018-105623. doi: 10.1136/jmedgenet-2018-105623
    Al-Rayess, Heba; Lakissian, Zavi; Boustany, Rose-Mary; Sharara-Chami, Rana.  A “Snap” of Portable Media Use among Children 2 Years & Younger in a Developing Country. Health and Primary Care. OAT. 2019 Volume 3: 1-6 ISSN: 2515-107X
    Stephanie Hoyek, Rose-Mary Boustany, Christiane El-Haddad . Eye Tracking Abnormalities in School-Aged Children With Strabismus and With & Without Amblyopia, September 2019, Journal of Pediatric Ophthalmology & Strabismus 56(5):297-304, DOI: 10.3928/01913913-20190726-01
    Shbarou Rolla M, Boustany Rose-Mary, Daher Rose T, Pakdel Parisa El Eid Rozana, Noureddine Abir, Karam Pascale E. Experience with non-ketotic hyperglycinemia in a developing country: 14-year retrospective study. Neuropediatrics 2019 DOI https://doi.org/10.1055/s-0039-1692207.ISSN 0174-304X.
    Sally El-Sitt, Jihane Soueid, Jamal Al Ali, Joelle Makoukji, Nadine J. Makhoul,  Hayat Harati, Rose-Mary Boustany. Developmental comparison of ceramide in wild-type and Cln3Δex7/8 mouse brain & sera. Frontiers in Neurology (2019).Vol 10:128. Doi:10.3389/fneur.2019.00128.
    S El-Sitt, J Soueid, K Maalouf, Jamal Ali, Nadine Makhoul, R-M Boustany. Exogenous GalCer as potential treatment for CLN3 disease. Ann of Neur.  2019;86:729–742
    Stephanie Saaybi, Natally Al-Arab, Salem Hannoun, Rayyan Toutounji, MariTherese Saade, Carine Zeeni, Rolla Shbarou, Roula Hourani, Rose-Mary Boustany. Pre & post-therapy Assessment of White Matter Integrity in Autism Spectrum Disorder.  Front. Neurol.13 Aug 2019 https://doi.org/10.3389/fneur.2019.00877
    Elias Salameh, Mona Krayem, Maritherese Saade, Reem Yassin, Serene Anouti, Rose-Mary Boustany. Impact of screen time on severity of symptoms in autism spectrum disorders.  (2020) International Journal of Autism and Related Disabilities.  2020. Volume 2020(1): pp 1-12 IJARD-131.DOI: 10.29011/2642-3227.000031
    Christiane Al-Haddad, Stephanie Hoyeck, Karine Ismail, Maamoun Abdul-Fattah, Larissa Smeets,  Mona Krayem, Marie-Therese Saade, Chadi Al Alam, Rolla Shbarou, Elza Rachid, Sirine Annouti, Rose-Mary Boustany. Novel Paradigm for Eye Tracking & Vision Screening. Autism International Journal of Autism & Related Disabilities 2020 (IJARD-135, in press). Zainab Awada, Reem Akika, Rihab Nasr, Arafat Tfayli, Rose-Mary Boustany, Joelle Makoukji, Hani Tamim, Akram Ghantous, Nathalie K. Zgheib. Short Relative Telomere Length in Peripheral Blood & Tissues Is Associated with Breast Cancer.  (2020) submitted to Clinical and Translational Oncology.
    Joelle Makoukji, Sally El-Sitt, Nadine J. Makhoul, Jihane Soueid, Humam Kadara, Rose-Mary Boustany. Galactosylceramide impact on male and female Cln3Δex7/8 mouse brain gene expression – an exploratory study PLOS ONE (PONE-D-20-00846 in press) Reem Yassin, Mona Krayem, Elias Salame, Roula Choueiri, Linda Abou Abbass, Rose-Mary Boustany. The RITA-T, a Rapid Interactive Test for Autism in Toddlers: Validity in a Lebanese Cross-cultural Pilot Study (2020). Journal of Autism and Developmental Disabilities. (IJARD in press).
    Christiane Al-Haddad, Elza Rachid, Rose-Mary Boustany, Elizabeth Engle.   Identification of KIF21A Mutations in the Etiology of Congenital Fibrosis of Extraocular Muscles 2020 (to be submitted).
    Lama Shamsedine, Aurelie Mailhac, Alexandra Badawoui, Rhawann El Hakim, Ramzi Kibbi, BS, Hala Oueidat, Yolla Youssef, Rose-Mary Boustany, Mona Nabulsi . Breastfeeding and autistic disorders: Is there an association?  2020 (under review IJARD).
    Katia Maalouf, Joelle Makoukji, Sara Saab, Nadine J. Makhoul, Anthony T. Bejjani, Angelica V. Carmona, Nihar Kinarivala, Bhuvaneshwar Vaidya, Thomas J. Abbruscato, Noël Ghanem, Paul C. Trippier, Rose-Mary Boustany. Exogenous Flupirtine as Potential Treatment for CLN3 Disease. 2020 (under review Cells, MDPI).