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1.

LINE-1 methylation mediates the inverse association between body mass index and breast cancer risk: A pilot study in the Lebanese population.

Awada, Zainab; Bouaoun, Liacine; Nasr, Rihab; Tfayli, Arafat; Cuenin, Cyrille; Akika, Reem; Boustany, Rose-Mary; Makoukji, Joelle; Tamim, Hani; Zgheib, Nathalie K; Ghantous, Akram.

Environ Res; 197: 111094, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33839117

2.

A Signature of Four Circulating microRNAs as Potential Biomarkers for Diagnosing Early-Stage Breast Cancer.

Itani, Maha M; Nassar, Farah J; Tfayli, Arafat H; Talhouk, Rabih S; Chamandi, Ghada K; Itani, Abdul Rahman S; Makoukji, Joelle; Boustany, Rose-Mary N; Hou, Lifang; Zgheib, Nathalie K; Nasr, Rihab R.

Int J Mol Sci; 22(11)2021 Jun 06.

Artículo en Inglés | MEDLINE | ID: mdl-34204158

3.

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease.

El-Sitt, Sally; Soueid, Jihane; Maalouf, Katia; Makhoul, Nadine; Al Ali, Jamal; Makoukji, Joelle; Asser, Bilal; Daou, Daniel; Harati, Hayat; Boustany, Rose-Mary.

Ann Neurol; 86(5): 729-742, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31393621

4.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N; Çaglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yesil, Gözde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam.

J Med Genet; 56(5): 332-339, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30487245

5.

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review.

Shbarou, Rolla M; Boustany, Rose Mary; Daher, Rose T; Pakdel, Parisa; Noureddine, Abir; Karam, Pascale E.

Neuropediatrics; 50(4): 235-243, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31170734

6.

LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.

Beetz, Christian; Westenberger, Ana; Al-Ali, Ruslan; Ameziane, Najim; Alhashmi, Nadia; Boustany, Rose-Mary; Al Mutairi, Fuad; Alfadhel, Majid; Al-Hassnan, Zuhair; AlSayed, Moenaldeen; Kandaswamy, Krishna K; Paknia, Omid; Skrahina, Volha; Rolfs, Arndt; Bauer, Peter.

Mov Disord; 36(4): 1029-1031, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33433017

7.

AUTISM IN REVIEW.

Khalifeh, Simone; Yassin, Walid; Kourtian, Silva; Boustany, Rose-Mary.

J Med Liban; 64(2): 110-115, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-30452150

8.

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.

Soueid, Jihane; Hamze, Zeinab; Bedran, Joe; Chahrour, Maria; Boustany, Rose-Mary.

Transl Psychiatry; 13(1): 404, 2023 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-38129378

9.

Whole-exome screening for primary congenital glaucoma in Lebanon.

Makhoul, Nadine J; Wehbi, Zahi; El Hadi, Dalia; Noureddine, Baha; Boustany, Rose-Mary; Al-Haddad, Christiane.

Ophthalmic Genet; 44(3): 234-245, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-36995002

10.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Tenney, Alan P; Di Gioia, Silvio Alessandro; Webb, Bryn D; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J; Barry, Brenda J; Ray, Tammy; Kosicki, Michael; Robson, Caroline D; Zhang, Zhongyang; Collins, Thomas E; Gelber, Alon; Pratt, Brandon M; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E; Van Ryzin, Carol; Lehky, Tanya J; Zalewski, Christopher; King, Kelly A; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Facio, Flavia M; Narisu, Narisu; Bonnycastle, Lori L; Swift, Amy; Chines, Peter S; Bell, Jessica L; Mohan, Suresh; Whitman, Mary C; Staffieri, Sandra E; Elder, James E; Demer, Joseph L; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A; Brady, Angela F; Fenollar-Cortés, María; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H; Parker, Stephen C J.

Nat Genet; 55(7): 1149-1163, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37386251

11.

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Haddad, Saria El; Khoury, Marwan; Daoud, Mohammad; Kantar, Rami; Harati, Hayat; Mousallem, Talal; Alzate, Oscar; Meyer, Brian; Boustany, Rose-Mary.

Electrophoresis; 33(24): 3798-809, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23160995

12.

Neuroproteomics approach and neurosystems biology analysis: ROCK inhibitors as promising therapeutic targets in neurodegeneration and neurotrauma.

Raad, Mohamad; El Tal, Tala; Gul, Rukhsana; Mondello, Stefania; Zhang, Zhiqun; Boustany, Rose-Mary; Guingab, Joy; Wang, Kevin K; Kobeissy, Firas.

Electrophoresis; 33(24): 3659-68, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23161464

13.

Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta.

Guo, Rishu; Wan, Chi-Keung; Carpenter, Jeffery H; Mousallem, Talal; Boustany, Rose-Mary N; Kuan, Chien-Tsun; Burks, A Wesley; Zhong, Xiao-Ping.

Proc Natl Acad Sci U S A; 105(33): 11909-14, 2008 Aug 19.

Artículo en Inglés | MEDLINE | ID: mdl-18689679

14.

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Al-Haddad, Christiane; Boustany, Rose-Mary; Rachid, Elza; Ismail, Karine; Barry, Brenda; Chan, Wai-Man; Engle, Elizabeth.

Ophthalmic Genet; 42(2): 195-199, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33251926

15.

Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening.

Al-Haddad, Christiane; El Moussawi, Zeinab; Hoyeck, Stephanie; Mehanna, Carl-Joe; El Salloukh, Nasrine Anais; Ismail, Karine; Hnaini, Mona; Boustany, Rose-Mary N.

PLoS One; 16(7): e0254831, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-34324539

16.

Ceramide center stage in progressive myoclonus epilepsies.

Boustany, Rose-Mary.

Ann Neurol; 76(2): 162-4, 2014 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25041902

17.

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice.

Makoukji, Joelle; El-Sitt, Sally; Makhoul, Nadine J; Soueid, Jihane; Kadara, Humam; Boustany, Rose-Mary.

PLoS One; 15(10): e0239537, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-33006978

18.

Exogenous Flupirtine as Potential Treatment for CLN3 Disease.

Maalouf, Katia; Makoukji, Joelle; Saab, Sara; Makhoul, Nadine J; Carmona, Angelica V; Kinarivala, Nihar; Ghanem, Noël; Trippier, Paul C; Boustany, Rose-Mary.

Cells; 9(8)2020 08 11.

Artículo en Inglés | MEDLINE | ID: mdl-32796515

19.

Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research.

Boustany, Rose-Mary.

Lancet Neurol; 23(1): 5-7, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38101903

20.

Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia.

Al-Haddad, Christiane; Hoyeck, Stephanie; Torbey, Julien; Houry, Rana; Boustany, Rose-Mary N.

J Pediatr Ophthalmol Strabismus; 56(5): 297-304, 2019 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-31545863

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