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99 results

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Roosing S, et al. Among authors: boustany rm. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602. Elife. 2015. PMID: 26026149 Free PMC article.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. Rad A, et al. Among authors: boustany rm. J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. J Med Genet. 2019. PMID: 30487245 Free PMC article.
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ, Wehbi Z, El Hadi D, Noureddine B, Boustany RM, Al-Haddad C. Makhoul NJ, et al. Among authors: boustany rm. Ophthalmic Genet. 2023 Jun;44(3):234-245. doi: 10.1080/13816810.2023.2189949. Epub 2023 Mar 30. Ophthalmic Genet. 2023. PMID: 36995002
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany RM, Al Mutairi F, Alfadhel M, Al-Hassnan Z, AlSayed M, Kandaswamy KK, Paknia O, Skrahina V, Rolfs A, Bauer P. Beetz C, et al. Among authors: boustany rm. Mov Disord. 2021 Apr;36(4):1029-1031. doi: 10.1002/mds.28452. Epub 2021 Jan 12. Mov Disord. 2021. PMID: 33433017 Free PMC article. No abstract available.
Morvan syndrome following B-cell lymphoma.
El-Bitar MK, Muwakkit SA, Abboud MR, Sawaya RA, Boustany RM. El-Bitar MK, et al. Among authors: boustany rm. J Child Neurol. 2010 Aug;25(8):1038-41. doi: 10.1177/0883073809356108. Epub 2010 Jan 28. J Child Neurol. 2010. PMID: 20110220
A 23-year-old man with seizures and visual deficit.
Boustany RM, Britton JW, Parisi JE, Keegan BM. Boustany RM, et al. Neurology. 2008 Jan 1;70(1):73-8. doi: 10.1212/01.wnl.0000298372.36118.1f. Neurology. 2008. PMID: 18166709 No abstract available.
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